NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=)
|
rs2229944
|
0.11079
|
NM_001371727.1(GABRB2):c.542-11T>C
|
rs10052441
|
0.08647
|
NM_001330260.2(SCN8A):c.993-58A>G
|
rs74091614
|
0.03307
|
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)
|
rs61234887
|
0.01841
|
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu)
|
rs150552608
|
0.01319
|
NM_018489.3(ASH1L):c.4246T>C (p.Ser1416Pro)
|
rs13373934
|
0.01106
|
NM_015335.5(MED13L):c.6068-8C>T
|
rs61936939
|
0.01078
|
NM_015215.4(CAMTA1):c.3653A>C (p.Asn1218Thr)
|
rs41278954
|
0.00753
|
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)
|
rs116716038
|
0.00747
|
NM_015261.3(NCAPD3):c.1727G>A (p.Gly576Asp)
|
rs73603039
|
0.00680
|
NM_015215.4(CAMTA1):c.2927G>A (p.Arg976Lys)
|
rs61741616
|
0.00663
|
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly)
|
rs77602559
|
0.00605
|
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln)
|
rs145115262
|
0.00595
|
NM_001371727.1(GABRB2):c.438C>G (p.Gly146=)
|
rs2964779
|
0.00576
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp)
|
rs147332381
|
0.00464
|
NM_015261.3(NCAPD3):c.4163C>T (p.Thr1388Met)
|
rs116394634
|
0.00459
|
NM_004044.7(ATIC):c.5C>T (p.Ala2Val)
|
rs138988481
|
0.00428
|
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp)
|
rs114702742
|
0.00416
|
NM_020812.4(DOCK6):c.2160+5G>A
|
rs150276162
|
0.00405
|
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His)
|
rs114057640
|
0.00392
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)
|
rs150125249
|
0.00378
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_001348768.2(HECW2):c.533A>G (p.Asn178Ser)
|
rs114024560
|
0.00353
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_005522.5(HOXA1):c.566A>C (p.Glu189Ala)
|
rs17500494
|
0.00340
|
NM_015261.3(NCAPD3):c.125T>C (p.Ile42Thr)
|
rs112183153
|
0.00325
|
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)
|
rs547565552
|
0.00316
|
NM_001958.5(EEF1A2):c.1030-8G>A
|
rs112283537
|
0.00314
|
NM_015570.4(AUTS2):c.11C>T (p.Pro4Leu)
|
rs200189077
|
0.00301
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_015326.5(SRGAP2):c.704G>A (p.Arg235His)
|
rs2987927
|
0.00294
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_003748.4(ALDH4A1):c.413C>T (p.Pro138Leu)
|
rs139640415
|
0.00249
|
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)
|
rs61729932
|
0.00249
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)
|
rs150236371
|
0.00231
|
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val)
|
rs151081332
|
0.00217
|
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr)
|
rs6529
|
0.00208
|
NM_030632.3(ASXL3):c.6346G>A (p.Ala2116Thr)
|
rs117661115
|
0.00208
|
NM_003292.3(TPR):c.1037T>C (p.Ile346Thr)
|
rs199892357
|
0.00207
|
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
|
rs138410949
|
0.00203
|
NM_203447.4(DOCK8):c.380G>A (p.Arg127His)
|
rs150742426
|
0.00196
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_006059.4(LAMC3):c.1520-6G>A
|
rs192031352
|
0.00175
|
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met)
|
rs117422805
|
0.00173
|
NM_203447.4(DOCK8):c.663C>A (p.Asp221Glu)
|
rs139391329
|
0.00173
|
NM_020717.5(SHROOM4):c.3611A>G (p.Glu1204Gly)
|
rs148721221
|
0.00172
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
NM_005634.3(SOX3):c.77T>C (p.Ile26Thr)
|
rs142709662
|
0.00168
|
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln)
|
rs146263125
|
0.00166
|
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)
|
rs141417436
|
0.00163
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_206965.2(FTCD):c.382G>A (p.Glu128Lys)
|
rs61729373
|
0.00152
|
NM_007126.5(VCP):c.79A>G (p.Ile27Val)
|
rs140913250
|
0.00151
|
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg)
|
rs143796569
|
0.00149
|
NM_001378452.1(ITPR1):c.2007-3T>C
|
rs200335594
|
0.00148
|
NM_001543.5(NDST1):c.239G>A (p.Arg80His)
|
rs145390254
|
0.00145
|
NM_019842.4(KCNQ5):c.22G>A (p.Gly8Arg)
|
rs191331629
|
0.00144
|
NM_133443.4(GPT2):c.334-3C>T
|
rs202025868
|
0.00143
|
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)
|
rs139671268
|
0.00141
|
NM_020812.4(DOCK6):c.133G>A (p.Val45Ile)
|
rs183060698
|
0.00141
|
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)
|
rs200466720
|
0.00140
|
NM_001278512.2(AP3B2):c.113+7G>A
|
rs756540347
|
0.00138
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_000027.4(AGA):c.10A>C (p.Lys4Gln)
|
rs149092606
|
0.00131
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
NM_002025.4(AFF2):c.2656C>G (p.Pro886Ala)
|
rs151043891
|
0.00127
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_001371727.1(GABRB2):c.984C>T (p.Tyr328=)
|
rs140538607
|
0.00124
|
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser)
|
rs139037316
|
0.00124
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His)
|
rs147940248
|
0.00118
|
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp)
|
rs144641429
|
0.00118
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met)
|
rs35090700
|
0.00107
|
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr)
|
rs138617999
|
0.00106
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=)
|
rs145570974
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly)
|
rs199578341
|
0.00102
|
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr)
|
rs200866893
|
0.00101
|
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_001190274.2(FBXO11):c.232+7C>T
|
rs752461788
|
0.00100
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)
|
rs56132571
|
0.00099
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_001371727.1(GABRB2):c.423C>G (p.Arg141=)
|
rs147449850
|
0.00098
|
NM_001083961.2(WDR62):c.2211-4G>A
|
rs202109439
|
0.00096
|
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys)
|
rs41299625
|
0.00095
|
NM_001382347.1(MYO5A):c.839-7A>G
|
rs199749277
|
0.00093
|
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys)
|
rs78215018
|
0.00093
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser)
|
rs138457939
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000254.3(MTR):c.2245C>T (p.Pro749Ser)
|
rs142250261
|
0.00091
|
NM_000310.4(PPT1):c.904A>G (p.Ile302Val)
|
rs146902902
|
0.00091
|
NM_004229.4(MED14):c.2860T>C (p.Tyr954His)
|
rs149954074
|
0.00091
|
NM_012280.4(FTSJ1):c.*8C>T
|
rs201095751
|
0.00091
|
NM_001160372.4(TRAPPC9):c.3414T>G (p.Ser1138Arg)
|
rs147127279
|
0.00089
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
NM_080669.6(SLC46A1):c.623A>T (p.Tyr208Phe)
|
rs201837257
|
0.00088
|
NM_182715.4(SYPL1):c.98G>A (p.Cys33Tyr)
|
rs141399410
|
0.00088
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile)
|
rs189100009
|
0.00087
|
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val)
|
rs147399860
|
0.00087
|
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr)
|
rs536963649
|
0.00087
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
NM_004366.6(CLCN2):c.2240G>A (p.Arg747His)
|
rs144164281
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00078
|
NM_152743.4(BRAT1):c.1507C>T (p.Pro503Ser)
|
rs147745609
|
0.00078
|
NM_203447.4(DOCK8):c.3988C>G (p.Leu1330Val)
|
rs148081681
|
0.00076
|
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met)
|
rs200283734
|
0.00075
|
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser)
|
rs200792504
|
0.00074
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr)
|
rs144321760
|
0.00071
|
NM_024824.5(ZC3H14):c.1279+9T>C
|
rs200718239
|
0.00071
|
NM_021956.5(GRIK2):c.890C>G (p.Ser297Trp)
|
rs61996330
|
0.00070
|
NM_001330078.2(NRXN1):c.1158+26A>T
|
rs201802152
|
0.00069
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr)
|
rs34505698
|
0.00066
|
NM_003748.4(ALDH4A1):c.369C>G (p.Asp123Glu)
|
rs147600006
|
0.00065
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
NM_018941.4(CLN8):c.546G>A (p.Ala182=)
|
rs144047076
|
0.00064
|
NM_001482.3(GATM):c.407C>T (p.Thr136Met)
|
rs148564534
|
0.00063
|
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe)
|
rs138452760
|
0.00062
|
NM_020717.5(SHROOM4):c.3944T>C (p.Ile1315Thr)
|
rs149300669
|
0.00061
|
NM_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser)
|
rs147898420
|
0.00058
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)
|
rs143778652
|
0.00056
|
NM_004229.4(MED14):c.1825A>G (p.Arg609Gly)
|
rs145739870
|
0.00056
|
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)
|
rs772789381
|
0.00055
|
NM_001365999.1(SZT2):c.8177C>G (p.Thr2726Ser)
|
rs145882968
|
0.00055
|
NM_015021.3(ZNF292):c.5330C>T (p.Ser1777Phe)
|
rs41273279
|
0.00055
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys)
|
rs374073337
|
0.00053
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe)
|
rs146284370
|
0.00053
|
NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)
|
rs180861816
|
0.00052
|
NM_007126.5(VCP):c.*4G>T
|
rs201091341
|
0.00052
|
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu)
|
rs373218212
|
0.00051
|
NM_015261.3(NCAPD3):c.2278T>G (p.Cys760Gly)
|
rs141965615
|
0.00050
|
NM_182961.4(SYNE1):c.17542-7G>A
|
rs199762799
|
0.00050
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser)
|
rs79386457
|
0.00048
|
NM_001378452.1(ITPR1):c.4421C>T (p.Thr1474Ile)
|
rs188558398
|
0.00048
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=)
|
rs146425610
|
0.00046
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
NM_015370.2(C22orf31):c.53G>A (p.Arg18Gln)
|
rs140235057
|
0.00046
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
NM_000245.4(MET):c.959C>T (p.Ala320Val)
|
rs35776110
|
0.00045
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_133444.3(ZNF526):c.1280C>T (p.Ala427Val)
|
rs144394848
|
0.00045
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)
|
rs182506343
|
0.00043
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_020812.4(DOCK6):c.5216A>T (p.His1739Leu)
|
rs200792145
|
0.00042
|
NM_004525.3(LRP2):c.8458C>A (p.Arg2820Ser)
|
rs140586887
|
0.00041
|
NM_006059.4(LAMC3):c.3409G>C (p.Ala1137Pro)
|
rs149766298
|
0.00041
|
NM_006420.3(ARFGEF2):c.5063C>T (p.Thr1688Ile)
|
rs145439001
|
0.00041
|
NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)
|
rs199558186
|
0.00041
|
NM_203447.4(DOCK8):c.1193G>A (p.Arg398Gln)
|
rs147287319
|
0.00040
|
NM_014727.3(KMT2B):c.1157T>C (p.Val386Ala)
|
rs374075740
|
0.00039
|
NM_133443.4(GPT2):c.1198G>C (p.Glu400Gln)
|
rs140225037
|
0.00039
|
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)
|
rs140002610
|
0.00038
|
NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn)
|
rs61735410
|
0.00038
|
NM_007050.6(PTPRT):c.4037C>T (p.Thr1346Met)
|
rs199947379
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_001378452.1(ITPR1):c.4474G>A (p.Val1492Ile)
|
rs200646875
|
0.00037
|
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu)
|
rs111806051
|
0.00036
|
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His)
|
rs144465058
|
0.00036
|
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp)
|
rs140626076
|
0.00036
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_138422.4(ADAT3):c.1069G>C (p.Glu357Gln)
|
rs200437566
|
0.00035
|
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)
|
rs145141811
|
0.00035
|
NM_203408.4(FAM47A):c.1707C>A (p.Phe569Leu)
|
rs191524414
|
0.00035
|
NM_001389.5(DSCAM):c.4548T>G (p.Phe1516Leu)
|
rs201602690
|
0.00034
|
NM_002241.5(KCNJ10):c.1043G>A (p.Arg348His)
|
rs146396982
|
0.00034
|
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu)
|
rs28935498
|
0.00034
|
NM_001130105.1(CERT1):c.55T>G (p.Phe19Val)
|
rs202137230
|
0.00033
|
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg)
|
rs377359525
|
0.00033
|
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu)
|
rs145061343
|
0.00032
|
NM_025114.4(CEP290):c.6116A>G (p.Asp2039Gly)
|
rs192259143
|
0.00032
|
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg)
|
rs200751676
|
0.00032
|
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln)
|
rs141586001
|
0.00032
|
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr)
|
rs374524755
|
0.00031
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_020066.5(FMN2):c.2201G>A (p.Arg734Gln)
|
rs140911005
|
0.00031
|
NM_025114.4(CEP290):c.5185C>T (p.Arg1729Trp)
|
rs201353893
|
0.00031
|
NM_006059.4(LAMC3):c.1066C>T (p.Arg356Cys)
|
rs138713603
|
0.00030
|
NM_203447.4(DOCK8):c.2749G>A (p.Glu917Lys)
|
rs200899164
|
0.00030
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
NM_004774.4(MED1):c.1113G>T (p.Gln371His)
|
rs138920788
|
0.00029
|
NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)
|
rs202142344
|
0.00029
|
NM_016373.4(WWOX):c.1142G>A (p.Arg381His)
|
rs202002431
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr)
|
rs146490004
|
0.00028
|
NM_002693.3(POLG):c.391T>C (p.Tyr131His)
|
rs562847013
|
0.00027
|
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr)
|
rs148453804
|
0.00026
|
NM_001160372.4(TRAPPC9):c.2077G>A (p.Ala693Thr)
|
rs147044768
|
0.00026
|
NM_001371727.1(GABRB2):c.609G>A (p.Thr203=)
|
rs138163747
|
0.00026
|
NM_003036.4(SKI):c.1384C>G (p.Pro462Ala)
|
rs199797772
|
0.00026
|
NM_014491.4(FOXP2):c.1937A>G (p.Asn646Ser)
|
rs145154396
|
0.00026
|
NM_014975.3(MAST1):c.4115C>A (p.Pro1372His)
|
rs373376362
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_014975.3(MAST1):c.1638+7G>A
|
rs200207566
|
0.00025
|
NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)
|
rs201034755
|
0.00024
|
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)
|
rs143050366
|
0.00024
|
NM_013275.6(ANKRD11):c.3437C>T (p.Thr1146Met)
|
rs150325340
|
0.00024
|
NM_015267.4(CUX2):c.3724G>A (p.Gly1242Arg)
|
rs201097767
|
0.00024
|
NM_015338.6(ASXL1):c.4493C>T (p.Thr1498Met)
|
rs150119795
|
0.00024
|
NM_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys)
|
rs201219118
|
0.00023
|
NM_006059.4(LAMC3):c.995G>A (p.Arg332His)
|
rs149861552
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)
|
rs374873057
|
0.00021
|
NM_006059.4(LAMC3):c.3805G>A (p.Gly1269Ser)
|
rs201011683
|
0.00021
|
NM_018136.5(ASPM):c.8009T>C (p.Ile2670Thr)
|
rs41299627
|
0.00021
|
NM_020208.4(SLC6A20):c.1447G>A (p.Val483Met)
|
rs146575685
|
0.00021
|
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
|
rs138565077
|
0.00021
|
NM_152743.4(BRAT1):c.2340C>G (p.Asp780Glu)
|
rs201045158
|
0.00021
|
NM_203447.4(DOCK8):c.2275G>A (p.Val759Met)
|
rs148693111
|
0.00021
|
NM_001080.3(ALDH5A1):c.1344-6T>C
|
rs368212282
|
0.00020
|
NM_001371727.1(GABRB2):c.573C>T (p.Tyr191=)
|
rs199576643
|
0.00020
|
NM_001378414.1(HDAC4):c.1979-8C>T
|
rs201875453
|
0.00020
|
NM_004774.4(MED1):c.429-7C>T
|
rs368821178
|
0.00020
|
NM_000288.4(PEX7):c.188+3A>G
|
rs200234391
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001177643.3(DAG1):c.-117+1G>T
|
rs992005563
|
0.00019
|
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn)
|
rs200154055
|
0.00019
|
NM_004525.3(LRP2):c.1555C>T (p.Pro519Ser)
|
rs147981204
|
0.00019
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
0.00019
|
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)
|
rs140467698
|
0.00019
|
NM_031206.7(LAS1L):c.1735G>A (p.Val579Ile)
|
rs200862250
|
0.00019
|
NM_203447.4(DOCK8):c.3220C>A (p.His1074Asn)
|
rs150298985
|
0.00019
|
NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=)
|
rs142424271
|
0.00018
|
NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala)
|
rs143664009
|
0.00018
|
NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val)
|
rs376775890
|
0.00017
|
NM_001371727.1(GABRB2):c.77+18T>C
|
rs200524787
|
0.00017
|
NM_004525.3(LRP2):c.3266G>A (p.Arg1089His)
|
rs143115109
|
0.00017
|
NM_005908.4(MANBA):c.2416-3C>T
|
rs375466384
|
0.00017
|
NM_001083962.2(TCF4):c.1487-5G>A
|
rs749176054
|
0.00016
|
NM_001348768.2(HECW2):c.2434+6G>A
|
rs376334623
|
0.00016
|
NM_001371928.1(AHDC1):c.3055G>A (p.Gly1019Ser)
|
rs373215750
|
0.00016
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
NM_002291.3(LAMB1):c.2315-28A>G
|
rs778943882
|
0.00016
|
NM_002693.3(POLG):c.32G>A (p.Gly11Asp)
|
rs765472726
|
0.00016
|
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys)
|
rs202159966
|
0.00016
|
NM_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu)
|
rs149576827
|
0.00015
|
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys)
|
rs202065982
|
0.00015
|
NM_001377.3(DYNC2H1):c.6307T>A (p.Ser2103Thr)
|
rs201003494
|
0.00015
|
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)
|
rs190037522
|
0.00015
|
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)
|
rs774604596
|
0.00014
|
NM_001371727.1(GABRB2):c.1060C>T (p.Arg354Cys)
|
rs41298406
|
0.00014
|
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp)
|
rs140795978
|
0.00014
|
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)
|
rs116634494
|
0.00014
|
NM_005522.5(HOXA1):c.562C>A (p.Gln188Lys)
|
rs150540921
|
0.00014
|
NM_005676.5(RBM10):c.1421A>T (p.Asp474Val)
|
rs782007244
|
0.00014
|
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys)
|
rs746340334
|
0.00014
|
NM_015261.3(NCAPD3):c.304A>C (p.Lys102Gln)
|
rs200432850
|
0.00014
|
NM_018489.3(ASH1L):c.7976G>A (p.Arg2659His)
|
rs201394353
|
0.00014
|
NM_018896.5(CACNA1G):c.3197C>T (p.Ser1066Leu)
|
rs577659325
|
0.00014
|
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)
|
rs146711478
|
0.00014
|
NM_133443.4(GPT2):c.286G>A (p.Gly96Arg)
|
rs778445616
|
0.00014
|
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met)
|
rs146087540
|
0.00013
|
NM_001844.5(COL2A1):c.158G>A (p.Arg53Gln)
|
rs370821294
|
0.00013
|
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)
|
rs201246466
|
0.00013
|
NM_004525.3(LRP2):c.5005A>G (p.Asn1669Asp)
|
rs143413559
|
0.00013
|
NM_015080.4(NRXN2):c.4985A>G (p.Asn1662Ser)
|
rs149386596
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp)
|
rs368995503
|
0.00013
|
NM_203447.4(DOCK8):c.1588G>A (p.Val530Met)
|
rs373187839
|
0.00013
|
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met)
|
rs148134639
|
0.00012
|
NM_006734.4(HIVEP2):c.4276C>T (p.Pro1426Ser)
|
rs373621115
|
0.00012
|
NM_020812.4(DOCK6):c.4061G>A (p.Arg1354Gln)
|
rs372715066
|
0.00012
|
NM_182961.4(SYNE1):c.11675T>C (p.Leu3892Ser)
|
rs180727534
|
0.00012
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_001100913.3(PACS2):c.1197T>G (p.Asp399Glu)
|
rs199748488
|
0.00011
|
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr)
|
rs375307187
|
0.00011
|
NM_001371727.1(GABRB2):c.1479A>T (p.Ile493=)
|
rs750111998
|
0.00011
|
NM_001371727.1(GABRB2):c.462C>T (p.Ile154=)
|
rs148320584
|
0.00011
|
NM_001377.3(DYNC2H1):c.10025G>A (p.Arg3342Gln)
|
rs755136217
|
0.00011
|
NM_001614.5(ACTG1):c.984+7C>T
|
rs369691985
|
0.00011
|
NM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln)
|
rs371595717
|
0.00011
|
NM_014727.3(KMT2B):c.2457G>A (p.Pro819=)
|
rs763878702
|
0.00011
|
NM_018249.6(CDK5RAP2):c.1490A>G (p.Asn497Ser)
|
rs375863465
|
0.00011
|
NM_020719.3(PRR12):c.2123C>T (p.Ala708Val)
|
rs531265357
|
0.00011
|
NM_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser)
|
rs142894102
|
0.00010
|
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)
|
rs151049890
|
0.00010
|
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)
|
rs74315466
|
0.00010
|
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)
|
rs141735618
|
0.00010
|
NM_001048166.1(STIL):c.3574G>A (p.Asp1192Asn)
|
rs369376550
|
0.00010
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr)
|
rs762765901
|
0.00010
|
NM_001368809.2(AMPD2):c.8C>T (p.Ser3Phe)
|
rs763310916
|
0.00010
|
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)
|
rs766372684
|
0.00010
|
NM_015215.4(CAMTA1):c.814G>A (p.Gly272Ser)
|
rs201816354
|
0.00010
|
NM_018941.4(CLN8):c.59C>G (p.Ser20Cys)
|
rs749651452
|
0.00010
|
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val)
|
rs192495145
|
0.00010
|
NM_182961.4(SYNE1):c.23791-7C>T
|
rs375558499
|
0.00010
|
NM_213599.3(ANO5):c.478C>T (p.Arg160Cys)
|
rs200531045
|
0.00010
|
NM_001003694.2(BRPF1):c.2537C>T (p.Ser846Leu)
|
rs539571131
|
0.00009
|
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr)
|
rs193922677
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001161352.2(KCNMA1):c.16G>A (p.Gly6Ser)
|
rs914048941
|
0.00009
|
NM_001389.5(DSCAM):c.5269C>A (p.Pro1757Thr)
|
rs201890626
|
0.00009
|
NM_004525.3(LRP2):c.11851G>A (p.Asp3951Asn)
|
rs761977482
|
0.00009
|
NM_004525.3(LRP2):c.7514G>A (p.Arg2505His)
|
rs371708810
|
0.00009
|
NM_006734.4(HIVEP2):c.6892A>T (p.Thr2298Ser)
|
rs201009823
|
0.00009
|
NM_016302.4(CRBN):c.937G>C (p.Asp313His)
|
rs142337178
|
0.00009
|
NM_018489.3(ASH1L):c.6995T>A (p.Ile2332Asn)
|
rs201789145
|
0.00009
|
NM_020987.5(ANK3):c.3488A>G (p.Gln1163Arg)
|
rs746416574
|
0.00009
|
NM_025137.4(SPG11):c.7132T>C (p.Phe2378Leu)
|
rs150571352
|
0.00009
|
NM_052876.4(NACC1):c.1537G>A (p.Ala513Thr)
|
rs201811994
|
0.00009
|
NM_203408.4(FAM47A):c.748G>A (p.Gly250Arg)
|
rs201672251
|
0.00009
|
NM_000159.4(GCDH):c.946G>A (p.Ala316Thr)
|
rs370059118
|
0.00008
|
NM_000426.4(LAMA2):c.4930G>A (p.Val1644Met)
|
rs182762857
|
0.00008
|
NM_000836.4(GRIN2D):c.884C>T (p.Pro295Leu)
|
rs750359083
|
0.00008
|
NM_001371727.1(GABRB2):c.1191G>A (p.Thr397=)
|
rs373911261
|
0.00008
|
NM_001371727.1(GABRB2):c.1373G>A (p.Arg458Gln)
|
rs80241240
|
0.00008
|
NM_001386298.1(CIC):c.4748A>G (p.Asn1583Ser)
|
rs773111863
|
0.00008
|
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn)
|
rs199583537
|
0.00008
|
NM_015559.3(SETBP1):c.3876C>G (p.Asp1292Glu)
|
rs139106261
|
0.00008
|
NM_020988.3(GNAO1):c.286G>A (p.Gly96Ser)
|
rs559674838
|
0.00008
|
NM_030632.3(ASXL3):c.1733C>T (p.Ser578Phe)
|
rs199871043
|
0.00008
|
NM_213599.3(ANO5):c.1516A>G (p.Ser506Gly)
|
rs141799673
|
0.00008
|
NM_000153.4(GALC):c.165C>G (p.Phe55Leu)
|
rs537461366
|
0.00007
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_001206999.2(CIT):c.2087G>A (p.Arg696His)
|
rs576662562
|
0.00007
|
NM_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00007
|
NM_001348716.2(KDM6B):c.1199G>A (p.Ser400Asn)
|
rs150106060
|
0.00007
|
NM_001365951.3(KIF1B):c.2115+6005C>T
|
rs201589971
|
0.00007
|
NM_001371727.1(GABRB2):c.237+12C>T
|
rs371694224
|
0.00007
|
NM_001371727.1(GABRB2):c.372C>T (p.Asn124=)
|
rs138299514
|
0.00007
|
NM_001371727.1(GABRB2):c.594A>G (p.Ala198=)
|
rs761307384
|
0.00007
|
NM_004229.4(MED14):c.3232A>G (p.Ile1078Val)
|
rs755442697
|
0.00007
|
NM_005522.5(HOXA1):c.151G>C (p.Asp51His)
|
rs144288739
|
0.00007
|
NM_006618.5(KDM5B):c.854A>G (p.Lys285Arg)
|
rs971208277
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys)
|
rs374807145
|
0.00007
|
NM_013275.6(ANKRD11):c.3743C>T (p.Ala1248Val)
|
rs752060365
|
0.00007
|
NM_014927.5(CNKSR2):c.3065C>T (p.Ser1022Phe)
|
rs144451192
|
0.00007
|
NM_206965.2(FTCD):c.906+7C>T
|
rs376001900
|
0.00007
|
NM_000784.4(CYP27A1):c.83A>C (p.Lys28Thr)
|
rs371449777
|
0.00006
|
NM_000875.5(IGF1R):c.2258G>A (p.Arg753Gln)
|
rs987303175
|
0.00006
|
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)
|
rs139719918
|
0.00006
|
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser)
|
rs61753000
|
0.00006
|
NM_001366722.1(GRIP1):c.2885C>T (p.Pro962Leu)
|
rs540468070
|
0.00006
|
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His)
|
rs371217448
|
0.00006
|
NM_001371727.1(GABRB2):c.1103A>G (p.Asn368Ser)
|
rs768489439
|
0.00006
|
NM_001371727.1(GABRB2):c.1190C>T (p.Thr397Met)
|
rs375083192
|
0.00006
|
NM_001371727.1(GABRB2):c.1334G>A (p.Gly445Glu)
|
rs781071477
|
0.00006
|
NM_001371727.1(GABRB2):c.285G>A (p.Arg95=)
|
rs144053366
|
0.00006
|
NM_001371727.1(GABRB2):c.542-8T>C
|
rs546965842
|
0.00006
|
NM_001371727.1(GABRB2):c.624A>G (p.Pro208=)
|
rs1174338619
|
0.00006
|
NM_001374828.1(ARID1B):c.4346G>A (p.Arg1449His)
|
rs370064281
|
0.00006
|
NM_001429.4(EP300):c.4214G>A (p.Arg1405His)
|
rs138855106
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_003718.5(CDK13):c.3094G>A (p.Gly1032Ser)
|
rs200412973
|
0.00006
|
NM_004268.5(MED17):c.327G>A (p.Met109Ile)
|
rs756882876
|
0.00006
|
NM_004366.6(CLCN2):c.532G>A (p.Glu178Lys)
|
rs780553073
|
0.00006
|
NM_004523.4(KIF11):c.2018A>T (p.Lys673Met)
|
rs1235363221
|
0.00006
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
NM_006059.4(LAMC3):c.2744G>A (p.Arg915Gln)
|
rs749496192
|
0.00006
|
NM_006059.4(LAMC3):c.2986C>T (p.Arg996Cys)
|
rs144084540
|
0.00006
|
NM_006059.4(LAMC3):c.4661G>A (p.Arg1554His)
|
rs547090197
|
0.00006
|
NM_006420.3(ARFGEF2):c.2558G>A (p.Arg853Gln)
|
rs141183045
|
0.00006
|
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys)
|
rs766989154
|
0.00006
|
NM_013275.6(ANKRD11):c.6095C>T (p.Pro2032Leu)
|
rs746355740
|
0.00006
|
NM_014141.6(CNTNAP2):c.402+8A>G
|
rs201311931
|
0.00006
|
NM_015080.4(NRXN2):c.1514C>T (p.Ala505Val)
|
rs200334993
|
0.00006
|
NM_015338.6(ASXL1):c.2618C>T (p.Pro873Leu)
|
rs202098158
|
0.00006
|
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg)
|
rs754727332
|
0.00006
|
NM_015570.4(AUTS2):c.1774C>G (p.Pro592Ala)
|
rs199756061
|
0.00006
|
NM_018136.5(ASPM):c.761A>G (p.Glu254Gly)
|
rs767536421
|
0.00006
|
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu)
|
rs372947608
|
0.00006
|
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg)
|
rs199576384
|
0.00006
|
NM_020812.4(DOCK6):c.5690C>T (p.Thr1897Met)
|
rs371203988
|
0.00006
|
NM_024072.4(DDX54):c.1381C>G (p.Leu461Val)
|
rs754799242
|
0.00006
|
NM_024596.5(MCPH1):c.505A>T (p.Asn169Tyr)
|
rs201120541
|
0.00006
|
NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)
|
rs201382524
|
0.00006
|
NM_031407.7(HUWE1):c.2387A>T (p.Gln796Leu)
|
rs140366563
|
0.00006
|
NM_130797.4(DPP6):c.1565A>G (p.Asn522Ser)
|
rs774538369
|
0.00006
|
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser)
|
rs375197568
|
0.00006
|
NM_182961.4(SYNE1):c.18974T>C (p.Leu6325Pro)
|
rs201361687
|
0.00006
|
NM_194449.4(PHLPP1):c.2627C>T (p.Ala876Val)
|
rs541150099
|
0.00006
|
NM_201599.3(ZMYM3):c.3800G>A (p.Arg1267Gln)
|
rs746982292
|
0.00006
|
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val)
|
rs369754449
|
0.00006
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_001100913.3(PACS2):c.2144C>T (p.Ser715Leu)
|
rs374373404
|
0.00005
|
NM_001110556.2(FLNA):c.4945+3G>A
|
rs372673802
|
0.00005
|
NM_001244008.2(KIF1A):c.3010G>A (p.Val1004Ile)
|
rs763669401
|
0.00005
|
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met)
|
rs367919114
|
0.00005
|
NM_001371727.1(GABRB2):c.1014A>G (p.Gln338=)
|
rs747854210
|
0.00005
|
NM_001371727.1(GABRB2):c.1063C>T (p.Leu355=)
|
rs764159075
|
0.00005
|
NM_001371727.1(GABRB2):c.1192-12C>A
|
rs375758935
|
0.00005
|
NM_001371727.1(GABRB2):c.1192-18G>T
|
rs376744140
|
0.00005
|
NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro)
|
rs200591388
|
0.00005
|
NM_001371727.1(GABRB2):c.1358G>A (p.Arg453Gln)
|
rs371728438
|
0.00005
|
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994
|
0.00005
|
NM_001378414.1(HDAC4):c.871G>A (p.Ala291Thr)
|
rs374729768
|
0.00005
|
NM_001519.4(BRF1):c.471+143G>T
|
rs754629781
|
0.00005
|
NM_001543.5(NDST1):c.2515G>A (p.Glu839Lys)
|
rs150060318
|
0.00005
|
NM_002941.4(ROBO1):c.3125A>T (p.Asp1042Val)
|
rs765740846
|
0.00005
|
NM_003718.5(CDK13):c.1462A>G (p.Lys488Glu)
|
rs780866053
|
0.00005
|
NM_004463.3(FGD1):c.2047-5C>A
|
rs368646447
|
0.00005
|
NM_006015.6(ARID1A):c.458C>T (p.Pro153Leu)
|
rs769828930
|
0.00005
|
NM_006765.4(TUSC3):c.714A>G (p.Ile238Met)
|
rs773936260
|
0.00005
|
NM_014516.4(CNOT3):c.959C>T (p.Pro320Leu)
|
rs190206269
|
0.00005
|
NM_015215.4(CAMTA1):c.2257G>A (p.Gly753Ser)
|
rs751332240
|
0.00005
|
NM_018136.5(ASPM):c.350G>A (p.Arg117Gln)
|
rs147420907
|
0.00005
|
NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)
|
rs781889971
|
0.00005
|
NM_020987.5(ANK3):c.199A>G (p.Ile67Val)
|
rs753653601
|
0.00005
|
NM_020987.5(ANK3):c.3279T>A (p.Phe1093Leu)
|
rs562083248
|
0.00005
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)
|
rs150361703
|
0.00004
|
NM_001008537.3(NEXMIF):c.3362G>A (p.Arg1121Gln)
|
rs765054230
|
0.00004
|
NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp)
|
rs368124753
|
0.00004
|
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln)
|
rs753638648
|
0.00004
|
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys)
|
rs370160870
|
0.00004
|
NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala)
|
rs370883451
|
0.00004
|
NM_001303052.2(MYT1L):c.1189G>T (p.Ala397Ser)
|
rs755926766
|
0.00004
|
NM_001349338.3(FOXP1):c.119A>T (p.Glu40Val)
|
rs765070623
|
0.00004
|
NM_001371727.1(GABRB2):c.1009C>T (p.Arg337Cys)
|
rs777778428
|
0.00004
|
NM_001371727.1(GABRB2):c.1174G>A (p.Asp392Asn)
|
rs150956270
|
0.00004
|
NM_001371727.1(GABRB2):c.1377T>C (p.His459=)
|
rs201342925
|
0.00004
|
NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=)
|
rs536960677
|
0.00004
|
NM_001371727.1(GABRB2):c.1530T>C (p.Tyr510=)
|
rs200872771
|
0.00004
|
NM_001371727.1(GABRB2):c.357T>C (p.Asp119=)
|
rs756503577
|
0.00004
|
NM_001371727.1(GABRB2):c.78-19T>C
|
rs202028432
|
0.00004
|
NM_001374828.1(ARID1B):c.3194C>T (p.Pro1065Leu)
|
rs370190261
|
0.00004
|
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His)
|
rs759549373
|
0.00004
|
NM_001377.3(DYNC2H1):c.3757C>T (p.Arg1253Trp)
|
rs375636006
|
0.00004
|
NM_001378452.1(ITPR1):c.2300G>A (p.Arg767His)
|
rs760141315
|
0.00004
|
NM_001386298.1(CIC):c.7054+4C>A
|
rs572168958
|
0.00004
|
NM_001389.5(DSCAM):c.2807A>G (p.Lys936Arg)
|
rs751623656
|
0.00004
|
NM_001389.5(DSCAM):c.850C>T (p.Arg284Cys)
|
rs267606133
|
0.00004
|
NM_001429.4(EP300):c.781C>T (p.Pro261Ser)
|
rs753462821
|
0.00004
|
NM_001429.4(EP300):c.902A>G (p.Asn301Ser)
|
rs778066441
|
0.00004
|
NM_001543.5(NDST1):c.40G>A (p.Val14Met)
|
rs377262041
|
0.00004
|
NM_003748.4(ALDH4A1):c.1376C>T (p.Pro459Leu)
|
rs756299719
|
0.00004
|
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)
|
rs150767375
|
0.00004
|
NM_004525.3(LRP2):c.11072G>A (p.Arg3691His)
|
rs142884214
|
0.00004
|
NM_004525.3(LRP2):c.7006C>T (p.Arg2336Trp)
|
rs149849411
|
0.00004
|
NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg)
|
rs776323741
|
0.00004
|
NM_006766.5(KAT6A):c.2710G>A (p.Glu904Lys)
|
rs755856755
|
0.00004
|
NM_006946.4(SPTBN2):c.4444C>T (p.Arg1482Trp)
|
rs373270554
|
0.00004
|
NM_012309.5(SHANK2):c.131C>T (p.Pro44Leu)
|
rs554208670
|
0.00004
|
NM_014023.4(WDR37):c.250G>A (p.Asp84Asn)
|
rs1255576929
|
0.00004
|
NM_015267.4(CUX2):c.382C>T (p.Arg128Trp)
|
rs749551874
|
0.00004
|
NM_015338.6(ASXL1):c.3503G>C (p.Ser1168Thr)
|
rs587778062
|
0.00004
|
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val)
|
rs748578338
|
0.00004
|
NM_018026.4(PACS1):c.2404A>G (p.Met802Val)
|
rs754776375
|
0.00004
|
NM_020812.4(DOCK6):c.188G>A (p.Arg63Gln)
|
rs776824883
|
0.00004
|
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met)
|
rs371666279
|
0.00004
|
NM_024662.3(NAT10):c.394A>G (p.Asn132Asp)
|
rs1014412725
|
0.00004
|
NM_203447.4(DOCK8):c.2731A>G (p.Thr911Ala)
|
rs754915792
|
0.00004
|
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser)
|
rs1423719687
|
0.00003
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
NM_001100913.3(PACS2):c.2119+5C>A
|
rs782261491
|
0.00003
|
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser)
|
rs797044739
|
0.00003
|
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)
|
rs1266642291
|
0.00003
|
NM_001135995.2(ATXN3L):c.865A>T (p.Lys289Ter)
|
rs772014789
|
0.00003
|
NM_001148.6(ANK2):c.11098T>G (p.Ser3700Ala)
|
rs1438803009
|
0.00003
|
NM_001148.6(ANK2):c.483+8T>C
|
rs774512699
|
0.00003
|
NM_001308093.3(GATA4):c.34G>C (p.Gly12Arg)
|
rs750597721
|
0.00003
|
NM_001368397.1(FRMPD4):c.2494G>A (p.Glu832Lys)
|
rs145583343
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_001371727.1(GABRB2):c.1118G>A (p.Arg373Gln)
|
rs202183786
|
0.00003
|
NM_001371727.1(GABRB2):c.1143C>T (p.Asn381=)
|
rs908738518
|
0.00003
|
NM_001371727.1(GABRB2):c.1153A>T (p.Thr385Ser)
|
rs201397195
|
0.00003
|
NM_001371727.1(GABRB2):c.1410C>T (p.Arg470=)
|
rs373821165
|
0.00003
|
NM_001371727.1(GABRB2):c.393C>T (p.His131=)
|
rs755211861
|
0.00003
|
NM_001371727.1(GABRB2):c.441C>T (p.Thr147=)
|
rs370578958
|
0.00003
|
NM_001371727.1(GABRB2):c.789C>A (p.Ser263=)
|
rs755694724
|
0.00003
|
NM_001371727.1(GABRB2):c.85G>T (p.Asp29Tyr)
|
rs775606746
|
0.00003
|
NM_001371727.1(GABRB2):c.998G>C (p.Arg333Thr)
|
rs776801560
|
0.00003
|
NM_001375380.1(EBF3):c.135-7C>T
|
rs988088877
|
0.00003
|
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
|
rs138287354
|
0.00003
|
NM_001377.3(DYNC2H1):c.3746A>T (p.Asp1249Val)
|
rs371037205
|
0.00003
|
NM_001378120.1(MBD5):c.1304C>T (p.Ser435Phe)
|
rs768225923
|
0.00003
|
NM_002578.5(PAK3):c.276+67C>T
|
rs900570811
|
0.00003
|
NM_003036.4(SKI):c.964C>T (p.Pro322Ser)
|
rs779317743
|
0.00003
|
NM_003482.4(KMT2D):c.2306A>C (p.His769Pro)
|
rs550637969
|
0.00003
|
NM_004525.3(LRP2):c.2213G>C (p.Gly738Ala)
|
rs762447103
|
0.00003
|
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)
|
rs369459721
|
0.00003
|
NM_005121.3(MED13):c.3559G>A (p.Asp1187Asn)
|
rs142787257
|
0.00003
|
NM_005121.3(MED13):c.5248A>G (p.Ser1750Gly)
|
rs778912049
|
0.00003
|
NM_006279.5(ST3GAL3):c.344G>A (p.Arg115His)
|
rs767108992
|
0.00003
|
NM_013275.6(ANKRD11):c.5150A>T (p.Glu1717Val)
|
rs551558075
|
0.00003
|
NM_013382.7(POMT2):c.551C>T (p.Thr184Met)
|
rs267606971
|
0.00003
|
NM_014008.5(CCDC22):c.909+8C>T
|
rs782559160
|
0.00003
|
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala)
|
rs773833981
|
0.00003
|
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile)
|
rs377611234
|
0.00003
|
NM_015570.4(AUTS2):c.2066G>A (p.Arg689His)
|
rs769690050
|
0.00003
|
NM_016032.4(ZDHHC9):c.929G>A (p.Arg310Gln)
|
rs753387074
|
0.00003
|
NM_016219.5(MAN1B1):c.1681C>T (p.Arg561Trp)
|
rs772165357
|
0.00003
|
NM_020338.4(ZMIZ1):c.577A>G (p.Met193Val)
|
rs1280033992
|
0.00003
|
NM_020812.4(DOCK6):c.4671C>A (p.Asn1557Lys)
|
rs1356611309
|
0.00003
|
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly)
|
rs989268235
|
0.00003
|
NM_024596.5(MCPH1):c.1628C>G (p.Thr543Ser)
|
rs763881518
|
0.00003
|
NM_030632.3(ASXL3):c.4039G>A (p.Gly1347Arg)
|
rs967367864
|
0.00003
|
NM_033394.3(TANC1):c.2830C>T (p.His944Tyr)
|
rs374498239
|
0.00003
|
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val)
|
rs138736400
|
0.00003
|
NM_152743.4(BRAT1):c.1163C>T (p.Ala388Val)
|
rs368710298
|
0.00003
|
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr)
|
rs746768839
|
0.00003
|
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys)
|
rs148726767
|
0.00003
|
NM_177939.3(P4HTM):c.1238C>T (p.Pro413Leu)
|
rs757914897
|
0.00003
|
NM_198525.3(KIF7):c.1515C>G (p.Asp505Glu)
|
rs377280724
|
0.00003
|
NM_206965.2(FTCD):c.172G>A (p.Val58Met)
|
rs749659966
|
0.00003
|
NM_000161.3(GCH1):c.662T>C (p.Met221Thr)
|
rs104894434
|
0.00002
|
NM_000240.4(MAOA):c.739G>A (p.Val247Ile)
|
rs777420059
|
0.00002
|
NM_000254.3(MTR):c.2852-3T>C
|
rs986257997
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys)
|
rs748853764
|
0.00002
|
NM_000744.7(CHRNA4):c.1054G>A (p.Val352Met)
|
rs121912264
|
0.00002
|
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)
|
rs375876694
|
0.00002
|
NM_001083961.2(WDR62):c.4187G>A (p.Arg1396His)
|
rs372272053
|
0.00002
|
NM_001148.6(ANK2):c.8927C>G (p.Ser2976Cys)
|
rs371343942
|
0.00002
|
NM_001190274.2(FBXO11):c.238G>A (p.Asp80Asn)
|
rs371395626
|
0.00002
|
NM_001197104.2(KMT2A):c.5630C>T (p.Ala1877Val)
|
rs782094920
|
0.00002
|
NM_001347721.2(DYRK1A):c.2083G>A (p.Val695Ile)
|
rs200597760
|
0.00002
|
NM_001358530.2(MOCS1):c.430C>T (p.Arg144Trp)
|
rs767641674
|
0.00002
|
NM_001358530.2(MOCS1):c.485G>A (p.Arg162Gln)
|
rs374575232
|
0.00002
|
NM_001367943.1(TCF7L2):c.397G>A (p.Gly133Ser)
|
rs368705098
|
0.00002
|
NM_001371727.1(GABRB2):c.1160G>A (p.Arg387Gln)
|
rs369113102
|
0.00002
|
NM_001371727.1(GABRB2):c.1202A>G (p.His401Arg)
|
rs1435021718
|
0.00002
|
NM_001371727.1(GABRB2):c.1411G>A (p.Ala471Thr)
|
rs140153076
|
0.00002
|
NM_001371727.1(GABRB2):c.1434C>T (p.Ile478=)
|
rs754964208
|
0.00002
|
NM_001371727.1(GABRB2):c.1510A>G (p.Ile504Val)
|
rs753338867
|
0.00002
|
NM_001371727.1(GABRB2):c.1518T>C (p.Tyr506=)
|
rs753233146
|
0.00002
|
NM_001371727.1(GABRB2):c.172C>G (p.Pro58Ala)
|
rs769551029
|
0.00002
|
NM_001371727.1(GABRB2):c.238-18T>C
|
rs1485793918
|
0.00002
|
NM_001371727.1(GABRB2):c.459-15C>T
|
rs759328020
|
0.00002
|
NM_001371727.1(GABRB2):c.60C>T (p.Ala20=)
|
rs763231952
|
0.00002
|
NM_001371727.1(GABRB2):c.720A>G (p.Arg240=)
|
rs756982726
|
0.00002
|
NM_001374828.1(ARID1B):c.5680G>A (p.Ala1894Thr)
|
rs768478175
|
0.00002
|
NM_001378414.1(HDAC4):c.412C>T (p.Arg138Cys)
|
rs745953691
|
0.00002
|
NM_001378452.1(ITPR1):c.5746A>G (p.Ile1916Val)
|
rs1479960762
|
0.00002
|
NM_001378454.1(ALMS1):c.6820C>T (p.Leu2274=)
|
rs1447282271
|
0.00002
|
NM_001386298.1(CIC):c.4831A>G (p.Asn1611Asp)
|
rs748419463
|
0.00002
|
NM_002547.3(OPHN1):c.1183A>G (p.Asn395Asp)
|
rs749837689
|
0.00002
|
NM_002693.3(POLG):c.17G>C (p.Trp6Ser)
|
rs1057524249
|
0.00002
|
NM_002860.4(ALDH18A1):c.2186A>T (p.Asp729Val)
|
rs770249022
|
0.00002
|
NM_003482.4(KMT2D):c.6421G>A (p.Gly2141Arg)
|
rs373429610
|
0.00002
|
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp)
|
rs750484458
|
0.00002
|
NM_003748.4(ALDH4A1):c.463G>A (p.Val155Met)
|
rs774464848
|
0.00002
|
NM_004463.3(FGD1):c.514C>T (p.Arg172Trp)
|
rs1222189428
|
0.00002
|
NM_004525.3(LRP2):c.4689G>A (p.Met1563Ile)
|
rs548232056
|
0.00002
|
NM_004525.3(LRP2):c.7307C>T (p.Thr2436Ile)
|
rs771962414
|
0.00002
|
NM_004774.4(MED1):c.3680C>T (p.Ser1227Leu)
|
rs144178898
|
0.00002
|
NM_004830.4(MED23):c.695A>G (p.Asn232Ser)
|
rs376144764
|
0.00002
|
NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val)
|
rs760415071
|
0.00002
|
NM_006766.5(KAT6A):c.2843G>A (p.Arg948Gln)
|
rs200762586
|
0.00002
|
NM_007118.4(TRIO):c.410C>T (p.Ser137Phe)
|
rs961247277
|
0.00002
|
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)
|
rs398124264
|
0.00002
|
NM_014727.3(KMT2B):c.1508C>T (p.Thr503Met)
|
rs772584640
|
0.00002
|
NM_014727.3(KMT2B):c.2768G>A (p.Arg923Gln)
|
rs754812892
|
0.00002
|
NM_014727.3(KMT2B):c.6749G>A (p.Arg2250His)
|
rs775887663
|
0.00002
|
NM_015335.5(MED13L):c.5630A>G (p.Gln1877Arg)
|
rs772898348
|
0.00002
|
NM_016148.5(SHANK1):c.1750C>T (p.Leu584Phe)
|
rs1184853066
|
0.00002
|
NM_018136.5(ASPM):c.3776G>A (p.Arg1259Lys)
|
rs199874115
|
0.00002
|
NM_018136.5(ASPM):c.3938G>A (p.Arg1313Lys)
|
rs200733896
|
0.00002
|
NM_018249.6(CDK5RAP2):c.2284G>A (p.Ala762Thr)
|
rs138553167
|
0.00002
|
NM_019842.4(KCNQ5):c.508G>A (p.Val170Ile)
|
rs771263285
|
0.00002
|
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)
|
rs761934754
|
0.00002
|
NM_024704.5(KIF16B):c.2586G>T (p.Glu862Asp)
|
rs760399657
|
0.00002
|
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr)
|
rs758546717
|
0.00002
|
NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser)
|
rs752566822
|
0.00002
|
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr)
|
rs746120093
|
0.00002
|
NM_152296.5(ATP1A3):c.1282G>A (p.Asp428Asn)
|
rs1555863482
|
0.00002
|
NM_152296.5(ATP1A3):c.56G>A (p.Arg19His)
|
rs782596240
|
0.00002
|
NM_198510.3(ITIH6):c.1682G>A (p.Arg561His)
|
rs370017589
|
0.00002
|
NM_000052.7(ATP7A):c.3884G>A (p.Arg1295Gln)
|
rs375709681
|
0.00001
|
NM_000159.4(GCDH):c.484C>G (p.Gln162Glu)
|
rs1299348900
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000245.4(MET):c.3091A>G (p.Met1031Val)
|
rs45564937
|
0.00001
|
NM_000254.3(MTR):c.3031G>A (p.Asp1011Asn)
|
rs753262198
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.76G>T (p.Ala26Ser)
|
rs1158872840
|
0.00001
|
NM_000263.4(NAGLU):c.817T>C (p.Cys273Arg)
|
rs759511446
|
0.00001
|
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
|
rs1859965098
|
0.00001
|
NM_000426.4(LAMA2):c.6226G>A (p.Val2076Ile)
|
rs767444868
|
0.00001
|
NM_000489.6(ATRX):c.1814G>A (p.Cys605Tyr)
|
rs1205903424
|
0.00001
|
NM_000666.3(ACY1):c.442G>A (p.Glu148Lys)
|
rs1385904500
|
0.00001
|
NM_000709.4(BCKDHA):c.944G>A (p.Arg315Gln)
|
rs201109190
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)
|
rs774592932
|
0.00001
|
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser)
|
rs1340140743
|
0.00001
|
NM_001003694.2(BRPF1):c.319G>A (p.Val107Ile)
|
rs1167611082
|
0.00001
|
NM_001005273.3(CHD3):c.284A>G (p.Tyr95Cys)
|
rs777077851
|
0.00001
|
NM_001008537.3(NEXMIF):c.2812C>T (p.Leu938Phe)
|
rs1297199556
|
0.00001
|
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)
|
rs1316686443
|
0.00001
|
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)
|
rs797045139
|
0.00001
|
NM_001046.3(SLC12A2):c.3257T>C (p.Ile1086Thr)
|
rs1206093526
|
0.00001
|
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)
|
rs369691608
|
0.00001
|
NM_001079872.2(CUL4B):c.294G>T (p.Gln98His)
|
rs755306871
|
0.00001
|
NM_001099922.3(ALG13):c.1250+7A>G
|
rs1464181502
|
0.00001
|
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met)
|
rs782351877
|
0.00001
|
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser)
|
rs782269425
|
0.00001
|
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln)
|
rs865831227
|
0.00001
|
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)
|
rs2055849544
|
0.00001
|
NM_001128840.3(CACNA1D):c.1893-3T>C
|
rs755763353
|
0.00001
|
NM_001134382.3(IQSEC1):c.122C>T (p.Pro41Leu)
|
rs751369634
|
0.00001
|
NM_001134407.3(GRIN2A):c.4354C>T (p.Arg1452Cys)
|
rs568622613
|
0.00001
|
NM_001148.6(ANK2):c.10796A>C (p.His3599Pro)
|
rs2096343477
|
0.00001
|
NM_001148.6(ANK2):c.9823G>A (p.Asp3275Asn)
|
rs1334864660
|
0.00001
|
NM_001165963.4(SCN1A):c.1891A>G (p.Met631Val)
|
rs1336507340
|
0.00001
|
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His)
|
rs373971175
|
0.00001
|
NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)
|
rs773004067
|
0.00001
|
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp)
|
rs1468401006
|
0.00001
|
NM_001273.5(CHD4):c.100+6A>T
|
rs376670062
|
0.00001
|
NM_001282531.3(ADNP):c.1123G>A (p.Gly375Arg)
|
rs763980090
|
0.00001
|
NM_001291867.2(NHS):c.2351A>G (p.Tyr784Cys)
|
rs781676239
|
0.00001
|
NM_001303052.2(MYT1L):c.2284-5G>A
|
rs772684698
|
0.00001
|
NM_001308093.3(GATA4):c.1036G>A (p.Gly346Ser)
|
rs779421943
|
0.00001
|
NM_001321075.3(DLG4):c.1421G>A (p.Arg474Gln)
|
rs773473959
|
0.00001
|
NM_001321075.3(DLG4):c.926G>A (p.Arg309Gln)
|
rs766960060
|
0.00001
|
NM_001321219.2(B9D1):c.425C>A (p.Ser142Ter)
|
rs777184315
|
0.00001
|
NM_001330078.2(NRXN1):c.739C>G (p.Arg247Gly)
|
rs200009780
|
0.00001
|
NM_001347886.2(DNAH3):c.11827A>G (p.Ile3943Val)
|
rs2083549745
|
0.00001
|
NM_001348800.3(ZBTB20):c.152C>G (p.Ser51Ter)
|
rs1064796308
|
0.00001
|
NM_001349338.3(FOXP1):c.1652+4C>T
|
rs572849158
|
0.00001
|
NM_001356.5(DDX3X):c.1537G>A (p.Val513Ile)
|
rs2063927856
|
0.00001
|
NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro)
|
rs532400782
|
0.00001
|
NM_001371727.1(GABRB2):c.1010G>A (p.Arg337His)
|
rs769682551
|
0.00001
|
NM_001371727.1(GABRB2):c.1017G>A (p.Lys339=)
|
rs1289875232
|
0.00001
|
NM_001371727.1(GABRB2):c.1077+6T>C
|
rs993294374
|
0.00001
|
NM_001371727.1(GABRB2):c.1078-9G>A
|
rs538734649
|
0.00001
|
NM_001371727.1(GABRB2):c.1093A>G (p.Ile365Val)
|
rs776347142
|
0.00001
|
NM_001371727.1(GABRB2):c.10G>A (p.Val4Met)
|
rs368787045
|
0.00001
|
NM_001371727.1(GABRB2):c.1117C>T (p.Arg373Ter)
|
rs745319567
|
0.00001
|
NM_001371727.1(GABRB2):c.1144C>T (p.Leu382Phe)
|
rs756481987
|
0.00001
|
NM_001371727.1(GABRB2):c.1154C>G (p.Thr385Ser)
|
rs373905764
|
0.00001
|
NM_001371727.1(GABRB2):c.1169A>G (p.Asn390Ser)
|
rs201129022
|
0.00001
|
NM_001371727.1(GABRB2):c.1173C>T (p.Tyr391=)
|
rs753777522
|
0.00001
|
NM_001371727.1(GABRB2):c.1192-6T>G
|
rs759226981
|
0.00001
|
NM_001371727.1(GABRB2):c.1200C>G (p.Pro400=)
|
rs770453629
|
0.00001
|
NM_001371727.1(GABRB2):c.1203T>C (p.His401=)
|
rs762487283
|
0.00001
|
NM_001371727.1(GABRB2):c.1204G>A (p.Glu402Lys)
|
rs78789939
|
0.00001
|
NM_001371727.1(GABRB2):c.1280C>T (p.Pro427Leu)
|
rs762381690
|
0.00001
|
NM_001371727.1(GABRB2):c.1320G>A (p.Gln440=)
|
rs1184212049
|
0.00001
|
NM_001371727.1(GABRB2):c.1324C>T (p.Arg442Trp)
|
rs1407862838
|
0.00001
|
NM_001371727.1(GABRB2):c.1325G>A (p.Arg442Gln)
|
rs779091017
|
0.00001
|
NM_001371727.1(GABRB2):c.1378G>A (p.Val460Met)
|
rs982764804
|
0.00001
|
NM_001371727.1(GABRB2):c.1381G>T (p.Ala461Ser)
|
rs1580953898
|
0.00001
|
NM_001371727.1(GABRB2):c.1382C>T (p.Ala461Val)
|
rs952831120
|
0.00001
|
NM_001371727.1(GABRB2):c.1397G>A (p.Arg466His)
|
rs772293871
|
0.00001
|
NM_001371727.1(GABRB2):c.1401G>A (p.Leu467=)
|
rs746150630
|
0.00001
|
NM_001371727.1(GABRB2):c.1419A>G (p.Gln473=)
|
rs749301985
|
0.00001
|
NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile)
|
rs781122974
|
0.00001
|
NM_001371727.1(GABRB2):c.1509C>T (p.Asn503=)
|
rs756795443
|
0.00001
|
NM_001371727.1(GABRB2):c.1513G>A (p.Val505Ile)
|
rs1218503196
|
0.00001
|
NM_001371727.1(GABRB2):c.170-4G>T
|
rs545803508
|
0.00001
|
NM_001371727.1(GABRB2):c.180G>T (p.Val60=)
|
rs1208230748
|
0.00001
|
NM_001371727.1(GABRB2):c.237+18T>C
|
rs749857323
|
0.00001
|
NM_001371727.1(GABRB2):c.282G>A (p.Lys94=)
|
rs771570156
|
0.00001
|
NM_001371727.1(GABRB2):c.288G>A (p.Leu96=)
|
rs1345898045
|
0.00001
|
NM_001371727.1(GABRB2):c.458+9T>C
|
rs1414682600
|
0.00001
|
NM_001371727.1(GABRB2):c.45C>T (p.Phe15=)
|
rs759095506
|
0.00001
|
NM_001371727.1(GABRB2):c.46C>G (p.Pro16Ala)
|
rs775021096
|
0.00001
|
NM_001371727.1(GABRB2):c.513A>G (p.Glu171=)
|
rs370168508
|
0.00001
|
NM_001371727.1(GABRB2):c.541+7C>G
|
rs373480281
|
0.00001
|
NM_001371727.1(GABRB2):c.542-16A>G
|
rs1554094288
|
0.00001
|
NM_001371727.1(GABRB2):c.542-19T>C
|
rs913562341
|
0.00001
|
NM_001371727.1(GABRB2):c.577C>T (p.Arg193Cys)
|
rs193920932
|
0.00001
|
NM_001371727.1(GABRB2):c.582C>A (p.Gly194=)
|
rs750096691
|
0.00001
|
NM_001371727.1(GABRB2):c.608C>T (p.Thr203Met)
|
rs772591708
|
0.00001
|
NM_001371727.1(GABRB2):c.615T>C (p.Ile205=)
|
rs1400169299
|
0.00001
|
NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg)
|
rs1273884286
|
0.00001
|
NM_001371727.1(GABRB2):c.679+7A>T
|
rs1285127035
|
0.00001
|
NM_001371727.1(GABRB2):c.69T>C (p.Cys23=)
|
rs1486789918
|
0.00001
|
NM_001371727.1(GABRB2):c.744A>G (p.Gln248=)
|
rs935553427
|
0.00001
|
NM_001371727.1(GABRB2):c.77+16G>T
|
rs778830538
|
0.00001
|
NM_001371727.1(GABRB2):c.804C>T (p.Tyr268=)
|
rs370057910
|
0.00001
|
NM_001371727.1(GABRB2):c.813A>T (p.Ser271=)
|
rs367813708
|
0.00001
|
NM_001371727.1(GABRB2):c.832+3A>G
|
rs77398862
|
0.00001
|
NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val)
|
rs1021186046
|
0.00001
|
NM_001371727.1(GABRB2):c.88C>T (p.Pro30Ser)
|
rs1760987338
|
0.00001
|
NM_001371727.1(GABRB2):c.89C>T (p.Pro30Leu)
|
rs749288718
|
0.00001
|
NM_001371727.1(GABRB2):c.936C>T (p.Cys312=)
|
rs181644032
|
0.00001
|
NM_001371727.1(GABRB2):c.996G>A (p.Gly332=)
|
rs762087070
|
0.00001
|
NM_001371727.1(GABRB2):c.9A>T (p.Arg3Ser)
|
rs967225542
|
0.00001
|
NM_001371928.1(AHDC1):c.1262G>A (p.Gly421Glu)
|
rs1178928609
|
0.00001
|
NM_001371928.1(AHDC1):c.1405C>T (p.Arg469Trp)
|
rs1309806240
|
0.00001
|
NM_001374828.1(ARID1B):c.1943G>A (p.Arg648Gln)
|
rs754042537
|
0.00001
|
NM_001374828.1(ARID1B):c.382G>A (p.Ala128Thr)
|
rs1374669064
|
0.00001
|
NM_001374828.1(ARID1B):c.4610C>T (p.Pro1537Leu)
|
rs530430137
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
NM_001378615.1(CC2D2A):c.2206A>T (p.Ser736Cys)
|
rs1308459948
|
0.00001
|
NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met)
|
rs782759179
|
0.00001
|
NM_001386298.1(CIC):c.1691C>T (p.Thr564Met)
|
rs1344969760
|
0.00001
|
NM_001394998.1(TANC2):c.2500C>T (p.Arg834Cys)
|
rs1282488329
|
0.00001
|
NM_001429.4(EP300):c.650A>G (p.Asn217Ser)
|
rs139130083
|
0.00001
|
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn)
|
rs373899425
|
0.00001
|
NM_002294.3(LAMP2):c.398-5T>C
|
rs1460188868
|
0.00001
|
NM_002576.5(PAK1):c.814C>T (p.Arg272Trp)
|
rs767363828
|
0.00001
|
NM_002641.4(PIGA):c.716-9T>A
|
rs1464500489
|
0.00001
|
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr)
|
rs1415602777
|
0.00001
|
NM_003072.5(SMARCA4):c.941C>T (p.Ala314Val)
|
rs549254467
|
0.00001
|
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp)
|
rs539274614
|
0.00001
|
NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln)
|
rs371321697
|
0.00001
|
NM_003754.3(EIF3F):c.263G>A (p.Gly88Asp)
|
rs1423611756
|
0.00001
|
NM_004208.4(AIFM1):c.911C>T (p.Thr304Met)
|
rs200114054
|
0.00001
|
NM_004268.5(MED17):c.1927A>G (p.Met643Val)
|
rs761959231
|
0.00001
|
NM_004274.5(AKAP6):c.5729C>T (p.Pro1910Leu)
|
rs771986930
|
0.00001
|
NM_004380.3(CREBBP):c.3836+7A>T
|
rs1259742748
|
0.00001
|
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile)
|
rs1052723403
|
0.00001
|
NM_004484.4(GPC3):c.496A>G (p.Met166Val)
|
rs1556297827
|
0.00001
|
NM_004525.3(LRP2):c.6011T>C (p.Leu2004Pro)
|
rs1338933587
|
0.00001
|
NM_004535.3(MYT1):c.346G>A (p.Glu116Lys)
|
rs769149524
|
0.00001
|
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter)
|
rs777220438
|
0.00001
|
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)
|
rs1562912305
|
0.00001
|
NM_004722.4(AP4M1):c.1148C>G (p.Pro383Arg)
|
rs1462415418
|
0.00001
|
NM_004774.4(MED1):c.638C>T (p.Pro213Leu)
|
rs1236352923
|
0.00001
|
NM_004818.3(DDX23):c.1583G>A (p.Arg528His)
|
rs1938420751
|
0.00001
|
NM_004840.3(ARHGEF6):c.1387T>C (p.Cys463Arg)
|
rs757760891
|
0.00001
|
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln)
|
rs754537871
|
0.00001
|
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)
|
rs756802179
|
0.00001
|
NM_005908.4(MANBA):c.2245C>A (p.Leu749Ile)
|
rs370834102
|
0.00001
|
NM_005957.5(MTHFR):c.1009G>A (p.Gly337Arg)
|
rs1214062050
|
0.00001
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
NM_005957.5(MTHFR):c.973C>T (p.Arg325Cys)
|
rs371085894
|
0.00001
|
NM_006059.4(LAMC3):c.1174C>T (p.His392Tyr)
|
rs771846512
|
0.00001
|
NM_006059.4(LAMC3):c.493G>A (p.Ala165Thr)
|
rs367598489
|
0.00001
|
NM_006567.5(FARS2):c.8G>T (p.Gly3Val)
|
rs200380429
|
0.00001
|
NM_006734.4(HIVEP2):c.3205G>T (p.Val1069Leu)
|
rs534200523
|
0.00001
|
NM_006734.4(HIVEP2):c.3958T>C (p.Ser1320Pro)
|
rs369617975
|
0.00001
|
NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys)
|
rs762142487
|
0.00001
|
NM_006940.6(SOX5):c.2078C>T (p.Ser693Leu)
|
rs1463087817
|
0.00001
|
NM_006950.3(SYN1):c.340A>G (p.Arg114Gly)
|
rs760804604
|
0.00001
|
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter)
|
rs183018401
|
0.00001
|
NM_012156.2(EPB41L1):c.1325T>A (p.Val442Asp)
|
rs1242238241
|
0.00001
|
NM_013275.6(ANKRD11):c.3812C>T (p.Ser1271Leu)
|
rs767520089
|
0.00001
|
NM_013275.6(ANKRD11):c.5575T>C (p.Ser1859Pro)
|
rs1318992601
|
0.00001
|
NM_014141.6(CNTNAP2):c.3046C>T (p.Arg1016Ter)
|
rs371642222
|
0.00001
|
NM_014141.6(CNTNAP2):c.3527C>T (p.Thr1176Ile)
|
rs746520358
|
0.00001
|
NM_014516.4(CNOT3):c.710C>T (p.Ala237Val)
|
rs767913658
|
0.00001
|
NM_014681.6(DHX34):c.2918C>T (p.Thr973Met)
|
rs769405184
|
0.00001
|
NM_014727.3(KMT2B):c.1802G>A (p.Arg601Gln)
|
rs761455591
|
0.00001
|
NM_014727.3(KMT2B):c.6818G>A (p.Arg2273His)
|
rs1450121966
|
0.00001
|
NM_014727.3(KMT2B):c.7019C>T (p.Pro2340Leu)
|
rs767396615
|
0.00001
|
NM_014975.3(MAST1):c.4604C>T (p.Ser1535Leu)
|
rs1442703139
|
0.00001
|
NM_015215.4(CAMTA1):c.5009G>A (p.Gly1670Asp)
|
rs377682208
|
0.00001
|
NM_015267.4(CUX2):c.2417C>T (p.Ser806Leu)
|
rs1445106287
|
0.00001
|
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter)
|
rs200870836
|
0.00001
|
NM_015338.6(ASXL1):c.314C>T (p.Thr105Met)
|
rs749495615
|
0.00001
|
NM_015443.4(KANSL1):c.2119C>T (p.His707Tyr)
|
rs959376850
|
0.00001
|
NM_017721.5(CC2D1A):c.2071G>A (p.Val691Met)
|
rs780097665
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_017780.4(CHD7):c.2819C>T (p.Pro940Leu)
|
rs753887911
|
0.00001
|
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys)
|
rs766110936
|
0.00001
|
NM_017780.4(CHD7):c.8353G>A (p.Ala2785Thr)
|
rs935815422
|
0.00001
|
NM_017780.4(CHD7):c.8425G>A (p.Val2809Met)
|
rs763048936
|
0.00001
|
NM_018136.5(ASPM):c.10113A>C (p.Lys3371Asn)
|
rs767471866
|
0.00001
|
NM_018136.5(ASPM):c.3168+7T>G
|
rs370546641
|
0.00001
|
NM_018249.6(CDK5RAP2):c.727G>A (p.Glu243Lys)
|
rs138588916
|
0.00001
|
NM_018489.3(ASH1L):c.4839C>G (p.Ser1613Arg)
|
rs1665688637
|
0.00001
|
NM_018941.4(CLN8):c.140C>T (p.Ser47Phe)
|
rs765158624
|
0.00001
|
NM_019066.5(MAGEL2):c.2498C>A (p.Ala833Glu)
|
rs374790538
|
0.00001
|
NM_020066.5(FMN2):c.4591A>T (p.Ser1531Cys)
|
rs781097988
|
0.00001
|
NM_020338.4(ZMIZ1):c.2587G>A (p.Ala863Thr)
|
rs1332317806
|
0.00001
|
NM_020719.3(PRR12):c.2057C>T (p.Thr686Ile)
|
rs1056726894
|
0.00001
|
NM_020738.4(KIDINS220):c.3955T>C (p.Ser1319Pro)
|
rs1310173085
|
0.00001
|
NM_020812.4(DOCK6):c.1990C>T (p.His664Tyr)
|
rs763009445
|
0.00001
|
NM_020987.5(ANK3):c.5204G>T (p.Cys1735Phe)
|
rs774735705
|
0.00001
|
NM_020987.5(ANK3):c.5965T>C (p.Trp1989Arg)
|
rs372922084
|
0.00001
|
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser)
|
rs779203584
|
0.00001
|
NM_022455.5(NSD1):c.2029T>C (p.Ser677Pro)
|
rs1265388422
|
0.00001
|
NM_022455.5(NSD1):c.846A>C (p.Pro282=)
|
rs377539686
|
0.00001
|
NM_022552.5(DNMT3A):c.1345G>A (p.Ala449Thr)
|
rs745406398
|
0.00001
|
NM_024072.4(DDX54):c.2537G>T (p.Gly846Val)
|
rs1050695140
|
0.00001
|
NM_024665.7(TBL1XR1):c.997G>A (p.Val333Ile)
|
rs1458872045
|
0.00001
|
NM_025114.4(CEP290):c.1038T>G (p.Asp346Glu)
|
rs372923864
|
0.00001
|
NM_025114.4(CEP290):c.2320G>C (p.Ala774Pro)
|
rs777365811
|
0.00001
|
NM_025114.4(CEP290):c.6818+5G>A
|
rs935214183
|
0.00001
|
NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)
|
rs756042946
|
0.00001
|
NM_030632.3(ASXL3):c.6281G>A (p.Cys2094Tyr)
|
rs1172659745
|
0.00001
|
NM_031407.7(HUWE1):c.1125G>T (p.Met375Ile)
|
rs1043071474
|
0.00001
|
NM_031407.7(HUWE1):c.2615G>A (p.Arg872Gln)
|
rs782162014
|
0.00001
|
NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln)
|
rs782315292
|
0.00001
|
NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met)
|
rs1357978246
|
0.00001
|
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)
|
rs782072593
|
0.00001
|
NM_054027.6(ANKH):c.1280C>T (p.Thr427Ile)
|
rs200410815
|
0.00001
|
NM_080701.4(TREX2):c.607C>T (p.His203Tyr)
|
rs781867557
|
0.00001
|
NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr)
|
rs1312971608
|
0.00001
|
NM_133433.4(NIPBL):c.7517G>A (p.Arg2506His)
|
rs761787560
|
0.00001
|
NM_153252.5(BRWD3):c.2377C>T (p.Arg793Cys)
|
rs768212341
|
0.00001
|
NM_153252.5(BRWD3):c.4184G>A (p.Arg1395His)
|
rs889378149
|
0.00001
|
NM_170606.3(KMT2C):c.2351C>A (p.Ser784Tyr)
|
rs780343727
|
0.00001
|
NM_172107.4(KCNQ2):c.2234C>T (p.Pro745Leu)
|
rs1057518569
|
0.00001
|
NM_181332.3(NLGN4X):c.2284C>G (p.Leu762Val)
|
rs764361221
|
0.00001
|
NM_198525.3(KIF7):c.3628A>G (p.Lys1210Glu)
|
rs751522626
|
0.00001
|
NM_201253.3(CRB1):c.2873G>A (p.Ser958Asn)
|
rs1236248738
|
0.00001
|
NM_203447.4(DOCK8):c.1220G>A (p.Ser407Asn)
|
rs774744500
|
0.00001
|
NM_206965.2(FTCD):c.842C>T (p.Ala281Val)
|
rs752941882
|
0.00001
|
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187)
|
|
|
GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30652489-32438943)
|
|
|
GRCh37/hg19 15q13.3(chr15:32157104-32418879)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:15737239-15820210)
|
|
|
GRCh37/hg19 1p36.32(chr1:2694731-3190921)x3
|
|
|
GRCh37/hg19 20p11.21(chr20:25295600-25397825)x1
|
|
|
GRCh37/hg19 20q11.22(chr20:32854720-32914371)x3
|
|
|
GRCh37/hg19 21q22.13(chr21:38719388-38887895)
|
|
|
GRCh37/hg19 22q12.1(chr22:27069493-29046492)x1
|
|
|
GRCh37/hg19 2p25.3(chr2:1618581-1856549)
|
|
|
GRCh37/hg19 2p25.3(chr2:1742240-1848126)
|
|
|
GRCh37/hg19 2p25.3(chr2:1742241-1848126)
|
|
|
GRCh37/hg19 2p25.3(chr2:1905043-2216475)
|
|
|
GRCh37/hg19 2p25.3(chr2:2198678-2338333)
|
|
|
GRCh37/hg19 2q23.1(chr2:149093832-149198502)x1
|
|
|
GRCh37/hg19 3q22.1(chr3:131507971-132143591)x3
|
|
|
GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072)
|
|
|
GRCh37/hg19 5q35.3(chr5:179606925-179807137)x1
|
|
|
GRCh37/hg19 6p25.3(chr6:1989529-2084356)x1
|
|
|
GRCh37/hg19 6q14.3(chr6:85852930-86514050)x4
|
|
|
GRCh37/hg19 8p23.1(chr8:9598226-10803255)x1
|
|
|
GRCh37/hg19 8p23.3-23.1(chr8:191530-6644251)
|
|
|
GRCh37/hg19 8q24.3(chr8:142840194-146280020)
|
|
|
GRCh37/hg19 Xp11.22(chrX:52923471-53765589)x2
|
|
|
GRCh37/hg19 Xp22.31(chrX:7056909-8005133)x3
|
|
|
GRCh37/hg19 Xp22.32(chrX:5073112-5578094)x1
|
|
|
GRCh37/hg19 Xq24(chrX:119660616-119681095)x1
|
|
|
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)
|
|
|
GRCh37/hg19 Xq28(chrX:153194251-153623000)x2
|
|
|
GRCh37/hg19 Xq28(chrX:153263517-155260560)x2
|
|
|
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
|
|
|
GRCh38/hg38 Xp11.22(chrX:54038034-54049437)x0
|
|
|
GRCh38/hg38 Xq12(chrX:68203479-68224263)x2
|
|
|
NC_000001.11:g.153812287_153823987del
|
|
|
NC_000005.9:g.(?_160721068)_(160721455_?)dup
|
|
|
NC_000005.9:g.(?_160721068)_(160763796_?)dup
|
|
|
NC_000005.9:g.(?_160721088)_(161324428_?)dup
|
|
|
NC_000020.11:g.(?_508451)_(508551_?)del
|
|
|
NC_000021.9:g.33542069_33544417del
|
|
|
NC_000023.10:g.(?_147030199)_(147046357_?)del
|
|
|
NC_000023.10:g.11600773_12249902del649130
|
|
|
NC_000023.10:g.11633731_11797224del163494
|
|
|
NC_000023.10:g.[(?_29619835)_(29843303_?);(?_30646799)_(30848980_?)dup]
|
|
|
NM_000026.4(ADSL):c.1022T>C (p.Leu341Ser)
|
rs770755205
|
|
NM_000027.4(AGA):c.971C>T (p.Thr324Ile)
|
rs1736643790
|
|
NM_000071.3(CBS):c.667-10_667-7del
|
rs376011228
|
|
NM_000071.3(CBS):c.992C>T (p.Ala331Val)
|
rs777919630
|
|
NM_000147.5(FUCA1):c.1093A>G (p.Asn365Asp)
|
rs1639194544
|
|
NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)
|
rs764863416
|
|
NM_000153.4(GALC):c.196-3dup
|
rs561184126
|
|
NM_000153.4(GALC):c.380G>T (p.Arg127Leu)
|
rs775886832
|
|
NM_000153.4(GALC):c.41C>G (p.Ala14Gly)
|
rs373587692
|
|
NM_000153.4:c.(1161+1_1162-1)_(*1718_?)del
|
|
|
NM_000156.6(GAMT):c.392-2A>G
|
rs2082618808
|
|
NM_000159.4(GCDH):c.506-8G>A
|
rs376016112
|
|
NM_000181.4(GUSB):c.1667dup (p.Met556fs)
|
rs1790698721
|
|
NM_000240.4(MAOA):c.1003A>G (p.Ile335Val)
|
rs2033892290
|
|
NM_000240.4(MAOA):c.168+6T>C
|
rs2033460975
|
|
NM_000240.4(MAOA):c.233dup (p.Leu78fs)
|
rs2033551253
|
|
NM_000245.4(MET):c.146A>C (p.Glu49Ala)
|
rs370499060
|
|
NM_000254.3(MTR):c.739A>G (p.Ser247Gly)
|
rs1661600753
|
|
NM_000263.4(NAGLU):c.1892G>T (p.Ser631Ile)
|
rs1227171021
|
|
NM_000263.4(NAGLU):c.268C>A (p.His90Asn)
|
rs1046181264
|
|
NM_000263.4(NAGLU):c.343C>T (p.Pro115Ser)
|
rs758785463
|
|
NM_000276.4(OCRL):c.19G>T (p.Val7Phe)
|
rs1935772672
|
|
NM_000277.3(PAH):c.1056del (p.Glu353fs)
|
rs62507350
|
|
NM_000277.3(PAH):c.166del (p.Glu56fs)
|
rs1878251285
|
|
NM_000277.3(PAH):c.821A>G (p.Lys274Arg)
|
rs1875223959
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000314.8(PTEN):c.634+5G>A
|
rs138336847
|
|
NM_000398.7(CYB5R3):c.437G>C (p.Ser146Thr)
|
rs1928397782
|
|
NM_000404.4(GLB1):c.334C>T (p.His112Tyr)
|
rs1699792652
|
|
NM_000426.4(LAMA2):c.1018G>T (p.Glu340Ter)
|
rs1778647170
|
|
NM_000426.4(LAMA2):c.2296T>C (p.Cys766Arg)
|
rs1787583332
|
|
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser)
|
rs35065563
|
|
NM_000426.4(LAMA2):c.5446-8G>T
|
rs377089476
|
|
NM_000426.4(LAMA2):c.7534C>A (p.Pro2512Thr)
|
rs756669467
|
|
NM_000426.4(LAMA2):c.8116G>A (p.Asp2706Asn)
|
rs1784913484
|
|
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter)
|
rs2151660977
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.2798C>A (p.Ser933Tyr)
|
rs2071269170
|
|
NM_000489.6(ATRX):c.3924A>T (p.Glu1308Asp)
|
rs2070136349
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000521.4:c.1_669del
|
|
|
NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)
|
rs1057517408
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)
|
rs1556270312
|
|
NM_000543.5(SMPD1):c.759C>A (p.Asp253Glu)
|
rs752000778
|
|
NM_000548.5(TSC2):c.2453TCA[2] (p.Ile820del)
|
rs137854128
|
|
NM_000548.5(TSC2):c.4845G>A (p.Met1615Ile)
|
rs2090790316
|
|
NM_000618.5(IGF1):c.447G>C (p.Lys149Asn)
|
rs756533031
|
|
NM_000666.3(ACY1):c.184G>C (p.Val62Leu)
|
rs202206383
|
|
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)
|
rs1653241392
|
|
NM_000719.7(CACNA1C):c.1481+1G>A
|
rs778456186
|
|
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro)
|
rs2060536584
|
|
NM_000719.7(CACNA1C):c.1A>C (p.Met1Leu)
|
rs931964122
|
|
NM_000742.4(CHRNA2):c.1568C>A (p.Pro523Gln)
|
rs145238683
|
|
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln)
|
rs148417330
|
|
NM_000814.6(GABRB3):c.343C>T (p.Gln115Ter)
|
rs1892478912
|
|
NM_000814.6(GABRB3):c.674T>G (p.Phe225Cys)
|
rs1890742227
|
|
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)
|
rs1595445975
|
|
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)
|
rs797045045
|
|
NM_000827.4(GRIA1):c.1034G>A (p.Arg345Gln)
|
rs142859488
|
|
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)
|
rs587776937
|
|
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser)
|
rs1555050158
|
|
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp)
|
rs1555050165
|
|
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly)
|
rs1555050171
|
|
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)
|
rs1555050174
|
|
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)
|
rs765556214
|
|
NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile)
|
rs1950069464
|
|
NM_000834.5(GRIN2B):c.1251dup (p.Ile418fs)
|
rs1191352284
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)
|
rs672601378
|
|
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg)
|
rs1949320254
|
|
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)
|
rs387906636
|
|
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
|
rs1555103971
|
|
NM_000834.5(GRIN2B):c.2171+3A>G
|
rs1591612223
|
|
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)
|
rs876661055
|
|
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys)
|
rs1085307547
|
|
NM_000834.5(GRIN2B):c.3949C>G (p.Leu1317Val)
|
|
|
NM_000834.5(GRIN2B):c.4319C>G (p.Ala1440Gly)
|
rs767037011
|
|
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)
|
rs398122823
|
|
NM_000836.4(GRIN2D):c.1085+6T>A
|
rs1261712245
|
|
NM_000836.4(GRIN2D):c.1583T>G (p.Val528Gly)
|
rs1970943117
|
|
NM_000836.4(GRIN2D):c.3124G>T (p.Gly1042Trp)
|
rs1297532606
|
|
NM_000836.4(GRIN2D):c.3175G>T (p.Ala1059Ser)
|
rs1971324842
|
|
NM_000836.4(GRIN2D):c.3196C>A (p.Pro1066Thr)
|
rs1386318829
|
|
NM_000836.4(GRIN2D):c.88G>A (p.Glu30Lys)
|
rs1970669406
|
|
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter)
|
rs2151652750
|
|
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter)
|
rs1173681603
|
|
NM_000875.5(IGF1R):c.302C>T (p.Pro101Leu)
|
rs2053900874
|
|
NM_001003694.2(BRPF1):c.1052_1053del (p.Val351fs)
|
rs886041090
|
|
NM_001003694.2(BRPF1):c.3020_3021del (p.Asp1006_Ser1007insTer)
|
rs2077100499
|
|
NM_001003694.2(BRPF1):c.3316C>G (p.Pro1106Ala)
|
rs2077118005
|
|
NM_001003694.2(BRPF1):c.3355A>G (p.Met1119Val)
|
rs1282057899
|
|
NM_001005273.3(CHD3):c.1369G>T (p.Glu457Ter)
|
rs1567844992
|
|
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg)
|
rs1567855081
|
|
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe)
|
rs1567855669
|
|
NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys)
|
rs1567855704
|
|
NM_001005273.3(CHD3):c.2882G>A (p.Gly961Glu)
|
rs1567856045
|
|
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)
|
rs1555611722
|
|
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln)
|
rs1567856331
|
|
NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del)
|
rs1567859975
|
|
NM_001005273.3(CHD3):c.3357_3358delinsTC (p.Asp1120His)
|
rs1567860075
|
|
NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro)
|
rs1567860112
|
|
NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile)
|
rs1567860640
|
|
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg)
|
rs1567860891
|
|
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys)
|
rs754919272
|
|
NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg)
|
rs1567860919
|
|
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)
|
rs1567861468
|
|
NM_001005273.3(CHD3):c.3512A>G (p.His1171Arg)
|
rs1567861489
|
|
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)
|
rs1567861501
|
|
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)
|
rs1567861571
|
|
NM_001005273.3(CHD3):c.3707T>C (p.Leu1236Pro)
|
rs1567861894
|
|
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln)
|
rs1567863732
|
|
NM_001005273.3(CHD3):c.4073-2A>G
|
rs1567864750
|
|
NM_001005273.3(CHD3):c.5090G>A (p.Arg1697Gln)
|
rs61738372
|
|
NM_001005273.3(CHD3):c.5642G>T (p.Arg1881Leu)
|
rs1567877108
|
|
NM_001005273.3(CHD3):c.5802_5803insGAAC (p.Phe1935fs)
|
rs1567878511
|
|
NM_001008537.3(NEXMIF):c.1426C>T (p.Gln476Ter)
|
rs2080113099
|
|
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs)
|
rs2080112105
|
|
NM_001008537.3(NEXMIF):c.2725del (p.Ala909fs)
|
rs2080105463
|
|
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs)
|
rs778917289
|
|
NM_001008537.3(NEXMIF):c.643G>T (p.Gly215Ter)
|
rs2147441502
|
|
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly)
|
rs1553130904
|
|
NM_001012614.2(CTBP1):c.125_127del (p.Phe42del)
|
rs1731781760
|
|
NM_001015877.2(PHF6):c.1022A>G (p.Glu341Gly)
|
rs2077504269
|
|
NM_001020658.2(PUM1):c.1158+1_1158+2dup
|
rs1553148974
|
|
NM_001029896.2(WDR45):c.1A>G (p.Met1Val)
|
rs2065048490
|
|
NM_001029896.2(WDR45):c.292G>T (p.Glu98Ter)
|
rs781998959
|
|
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)
|
rs1602537958
|
|
NM_001029896.2(WDR45):c.695G>T (p.Arg232Leu)
|
rs781978699
|
|
NM_001029896.2(WDR45):c.787_800del (p.Ile263fs)
|
rs2065030871
|
|
NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)
|
rs796053366
|
|
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.1316TCA[1] (p.Ile440del)
|
rs1841769844
|
|
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)
|
rs796053368
|
|
NM_001032221.6(STXBP1):c.238T>C (p.Ser80Pro)
|
rs1840867221
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly)
|
rs1841140785
|
|
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs)
|
rs1841239642
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001032382.2(PQBP1):c.731C>T (p.Pro244Leu)
|
rs878853145
|
|
NM_001037333.3(CYFIP2):c.1918G>A (p.Glu640Lys)
|
rs1760957806
|
|
NM_001039591.3(USP9X):c.1764-6T>G
|
rs2062542737
|
|
NM_001039591.3(USP9X):c.224T>G (p.Leu75Trp)
|
rs2062284547
|
|
NM_001039591.3(USP9X):c.2877+5G>A
|
rs2062713669
|
|
NM_001039591.3(USP9X):c.4291dup (p.Leu1431fs)
|
rs2062994512
|
|
NM_001040142.2(SCN2A):c.1094C>A (p.Thr365Lys)
|
rs1697567984
|
|
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)
|
rs1698166561
|
|
NM_001040142.2(SCN2A):c.3440A>G (p.Asp1147Gly)
|
rs1700658194
|
|
NM_001040142.2(SCN2A):c.3798del (p.Gln1267fs)
|
rs1700956378
|
|
NM_001040142.2(SCN2A):c.4082G>A (p.Gly1361Asp)
|
rs1701224556
|
|
NM_001040142.2(SCN2A):c.4244T>C (p.Leu1415Pro)
|
rs1701232405
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
NM_001040142.2(SCN2A):c.452del (p.Pro151fs)
|
rs1697224468
|
|
NM_001040142.2(SCN2A):c.4959G>C (p.Leu1653Phe)
|
rs1702008760
|
|
NM_001040142.2(SCN2A):c.5046_5048delinsGG (p.Phe1682fs)
|
rs1702012175
|
|
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val)
|
rs1553567864
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001042432.2(CLN3):c.443_445del (p.Val148del)
|
rs752130042
|
|
NM_001042432.2(CLN3):c.461-4C>G
|
rs1006236175
|
|
NM_001042432.2(CLN3):c.913CTC[1] (p.Leu306del)
|
rs2046113354
|
|
NM_001042492.3(NF1):c.889-6_893del
|
rs2066505220
|
|
NM_001042603.3(KDM5A):c.4048C>T (p.Arg1350Ter)
|
rs775280239
|
|
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)
|
rs1567139896
|
|
NM_001079872.2(CUL4B):c.757_758del (p.Gln253fs)
|
rs878853152
|
|
NM_001080.3(ALDH5A1):c.109C>G (p.Pro37Ala)
|
rs1764663348
|
|
NM_001080421.3(UNC13A):c.3497G>C (p.Gly1166Ala)
|
rs758916422
|
|
NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter)
|
rs2042188851
|
|
NM_001080517.3(SETD5):c.1895G>T (p.Arg632Leu)
|
rs772791035
|
|
NM_001080517.3(SETD5):c.2177_2178del (p.Thr726fs)
|
rs587777326
|
|
NM_001080517.3(SETD5):c.2212_2213del (p.Met738fs)
|
rs2125289335
|
|
NM_001080517.3(SETD5):c.3259G>A (p.Gly1087Ser)
|
rs2045527216
|
|
NM_001080517.3(SETD5):c.648del (p.Gln216fs)
|
rs2041147607
|
|
NM_001081550.2(THOC2):c.3427G>A (p.Ala1143Thr)
|
rs2047169812
|
|
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)
|
rs764610550
|
|
NM_001083961.2(WDR62):c.2520+5G>T
|
rs754976942
|
|
NM_001083961.2(WDR62):c.3361del (p.Ala1121fs)
|
rs1973468140
|
|
NM_001083961.2(WDR62):c.4312-1G>C
|
rs1973640822
|
|
NM_001083961.2(WDR62):c.4402G>A (p.Ala1468Thr)
|
rs1973650905
|
|
NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val)
|
|
|
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del)
|
rs1599375711
|
|
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs)
|
rs398123561
|
|
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter)
|
rs878853149
|
|
NM_001098621.4(LYSET):c.216dup (p.His73fs)
|
rs1894051550
|
|
NM_001099433.2(JAKMIP1):c.1432-2A>G
|
rs1135401781
|
|
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser)
|
rs1408463417
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001100913.3(PACS2):c.1292G>A (p.Arg431Gln)
|
rs2081009644
|
|
NM_001100913.3(PACS2):c.587-4G>C
|
rs782379339
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.1043C>T (p.Ser348Leu)
|
rs886041309
|
|
NM_001101.5(ACTB):c.173C>T (p.Ala58Val)
|
rs1784832575
|
|
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)
|
rs281875332
|
|
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr)
|
rs1562720119
|
|
NM_001110556.2(FLNA):c.2764G>C (p.Asp922His)
|
rs1557178146
|
|
NM_001110556.2(FLNA):c.6008G>A (p.Arg2003His)
|
rs1182812659
|
|
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser)
|
rs782171742
|
|
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs)
|
rs267608571
|
|
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs)
|
rs267608382
|
|
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)
|
rs267608597
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.148_149insGCCAAAG (p.Glu50fs)
|
rs2065989620
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001110792.2(MECP2):c.[1076_1102del;1124_1142del]
|
|
|
NM_001111125.3(IQSEC2):c.1405_1406del (p.Lys469fs)
|
rs2074385548
|
|
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
|
rs1602284689
|
|
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp)
|
rs267607186
|
|
NM_001111125.3(IQSEC2):c.2680G>A (p.Asp894Asn)
|
rs1602277527
|
|
NM_001111125.3(IQSEC2):c.2710C>T (p.Arg904Ter)
|
rs2074317360
|
|
NM_001111125.3(IQSEC2):c.3097C>T (p.Gln1033Ter)
|
rs878853144
|
|
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)
|
|
|
NM_001123385.2(BCOR):c.2266G>A (p.Glu756Lys)
|
rs1935566838
|
|
NM_001123385.2(BCOR):c.3261G>T (p.Lys1087Asn)
|
rs933663018
|
|
NM_001123385.2(BCOR):c.3500A>G (p.Lys1167Arg)
|
rs1935079756
|
|
NM_001127222.2(CACNA1A):c.1187T>C (p.Ile396Thr)
|
rs2058520222
|
|
NM_001127222.2(CACNA1A):c.1197_1198+6del
|
rs2058520032
|
|
NM_001127222.2(CACNA1A):c.6656_6658dup (p.His2219dup)
|
rs749638821
|
|
NM_001127222.2(CACNA1A):c.6736T>C (p.Ser2246Pro)
|
rs2054680597
|
|
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe)
|
rs1173578471
|
|
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr)
|
rs1755334003
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001128840.3(CACNA1D):c.1384C>G (p.Arg462Gly)
|
rs765353117
|
|
NM_001128840.3(CACNA1D):c.2732G>A (p.Ser911Asn)
|
rs2095048446
|
|
NM_001128840.3(CACNA1D):c.3701A>G (p.Asn1234Ser)
|
rs147146258
|
|
NM_001128840.3(CACNA1D):c.4509del (p.Asp1504fs)
|
rs2095400961
|
|
NM_001128840.3(CACNA1D):c.5695T>C (p.Cys1899Arg)
|
rs779483775
|
|
NM_001130438.3(SPTAN1):c.655C>T (p.Gln219Ter)
|
rs1851359356
|
|
NM_001130438.3(SPTAN1):c.6979G>A (p.Glu2327Lys)
|
rs2132094752
|
|
NM_001130438.3(SPTAN1):c.7305C>A (p.Tyr2435Ter)
|
rs527570862
|
|
NM_001130438.3(SPTAN1):c.7307del (p.Gln2436fs)
|
rs1860025750
|
|
NM_001134225.2(INPP4A):c.115C>T (p.Gln39Ter)
|
rs1574887674
|
|
NM_001134407.3(GRIN2A):c.1273del (p.Pro424_Leu425insTer)
|
rs879253760
|
|
NM_001134407.3(GRIN2A):c.1498-6A>G
|
rs1307155809
|
|
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg)
|
rs1596476657
|
|
NM_001134407.3(GRIN2A):c.1663G>T (p.Ala555Ser)
|
rs2042547937
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.2357-40_*41del
|
|
|
NM_001134407.3(GRIN2A):c.3476G>C (p.Arg1159Pro)
|
rs534440095
|
|
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser)
|
rs770966136
|
|
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)
|
rs2044762657
|
|
NM_001134831.2(AHI1):c.439G>A (p.Glu147Lys)
|
rs1790713679
|
|
NM_001142640.2(TNRC6C):c.1652G>A (p.Gly551Glu)
|
rs748305029
|
|
NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val)
|
rs200565814
|
|
NM_001144967.3(NEDD4L):c.2690G>A (p.Arg897Gln)
|
|
|
NM_001144967.3(NEDD4L):c.439C>T (p.Arg147Ter)
|
rs748006260
|
|
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln)
|
rs2059194330
|
|
NM_001145073.3(USP27X):c.310_311del (p.Asp104fs)
|
rs1601932069
|
|
NM_001148.6(ANK2):c.10591G>T (p.Asp3531Tyr)
|
rs2096040389
|
|
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp)
|
rs147706514
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)
|
rs2071449158
|
|
NM_001161.5(NUDT2):c.186del (p.Ala63fs)
|
rs529087882
|
|
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu)
|
rs150678882
|
|
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn)
|
rs2049489016
|
|
NM_001163435.3(TBCK):c.721G>T (p.Glu241Ter)
|
rs577030895
|
|
NM_001164342.2(ZBTB20):c.[1847C>T;2221G>A]
|
|
|
NM_001165899.2(PDE4D):c.91C>G (p.Arg31Gly)
|
rs1266456259
|
|
NM_001165963.4(SCN1A):c.2645T>C (p.Ile882Thr)
|
rs1696670375
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001165963.4(SCN1A):c.4441G>A (p.Val1481Ile)
|
rs1085307484
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.985G>T (p.Gly329Cys)
|
rs781746113
|
|
NM_001170629.2(CHD8):c.2811del (p.Arg938fs)
|
rs1888277300
|
|
NM_001170629.2(CHD8):c.3331_3332del (p.Glu1111fs)
|
rs2139470170
|
|
NM_001170629.2(CHD8):c.3524T>G (p.Leu1175Ter)
|
rs1888108039
|
|
NM_001170629.2(CHD8):c.422C>T (p.Thr141Ile)
|
rs1889549384
|
|
NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter)
|
rs55884219
|
|
NM_001170629.2(CHD8):c.7399T>A (p.Ser2467Thr)
|
rs1887208398
|
|
NM_001170629.2(CHD8):c.7400C>A (p.Ser2467Tyr)
|
rs1887208262
|
|
NM_001170629.2(CHD8):c.7488_7517del (p.His2500_Pro2509del)
|
rs1348736609
|
|
NM_001171613.2(PREPL):c.1827+5G>A
|
rs1672986669
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn)
|
rs1687957552
|
|
NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs)
|
rs1687515795
|
|
NM_001172509.2(SATB2):c.1727del (p.Pro576fs)
|
rs1687511465
|
|
NM_001172509.2(SATB2):c.1762C>T (p.Gln588Ter)
|
rs1692195674
|
|
NM_001172509.2(SATB2):c.598-2A>G
|
rs1574554519
|
|
NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)
|
rs137853127
|
|
NM_001182.5(ALDH7A1):c.1507G>A (p.Gly503Ser)
|
rs1749787678
|
|
NM_001184727.2(GPRASP1):c.3106C>T (p.Pro1036Ser)
|
rs1569484943
|
|
NM_001184727.2(GPRASP1):c.3379G>C (p.Glu1127Gln)
|
rs1057518762
|
|
NM_001184727.2(GPRASP1):c.3754C>A (p.Pro1252Thr)
|
rs1569485074
|
|
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala)
|
rs1928459143
|
|
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
|
rs587784300
|
|
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)
|
rs746953076
|
|
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu)
|
rs1671446564
|
|
NM_001190274.2(FBXO11):c.2120A>G (p.Asn707Ser)
|
rs1670752914
|
|
NM_001190274.2(FBXO11):c.221_223del (p.Val74del)
|
rs761010339
|
|
NM_001190274.2(FBXO11):c.96_107del (p.Pro33_Pro36del)
|
rs770886918
|
|
NM_001197104.2(KMT2A):c.10023dup (p.Ser3342fs)
|
rs2134409465
|
|
NM_001197104.2(KMT2A):c.1142dup (p.Ala383fs)
|
rs1949956477
|
|
NM_001197104.2(KMT2A):c.1828T>A (p.Ser610Thr)
|
rs1949970364
|
|
NM_001197104.2(KMT2A):c.3920dup (p.Gln1308fs)
|
rs1950141561
|
|
NM_001197104.2(KMT2A):c.4012+1del
|
rs1950143446
|
|
NM_001197104.2(KMT2A):c.502+1G>A
|
rs1591371152
|
|
NM_001197104.2(KMT2A):c.654_679delinsTTTACT (p.Glu219fs)
|
rs1949946887
|
|
NM_001197104.2(KMT2A):c.7466A>C (p.Lys2489Thr)
|
rs1950532082
|
|
NM_001197104.2(KMT2A):c.766dup (p.Ile256fs)
|
rs1565278132
|
|
NM_001197104.2(KMT2A):c.7706G>C (p.Gly2569Ala)
|
rs1854349115
|
|
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)
|
rs1950540436
|
|
NM_001197104.2(KMT2A):c.9119C>T (p.Pro3040Leu)
|
rs1565305337
|
|
NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe)
|
rs1950562472
|
|
NM_001197104.2(KMT2A):c.9682C>T (p.Arg3228Cys)
|
rs778675942
|
|
NM_001197104.2(KMT2A):c.9714_9735del (p.Pro3239fs)
|
rs1950567837
|
|
NM_001198903.1:c.998_1293del
|
|
|
NM_001199298.2(UIMC1):c.1732del (p.His578fs)
|
|
|
NM_001220.5(CAMK2B):c.1329del (p.Pro444fs)
|
rs2096555926
|
|
NM_001220.5(CAMK2B):c.328G>A (p.Glu110Lys)
|
rs1554402092
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001220.5(CAMK2B):c.709G>A (p.Glu237Lys)
|
rs1554386687
|
|
NM_001220.5(CAMK2B):c.820-1G>A
|
rs1554385305
|
|
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)
|
rs1554434435
|
|
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup)
|
rs2096680726
|
|
NM_001220.5(CAMK2B):c.901A>G (p.Lys301Glu)
|
rs1554385111
|
|
NM_001220.5(CAMK2B):c.903+1G>A
|
rs1554385102
|
|
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)
|
rs1601970168
|
|
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)
|
rs777844378
|
|
NM_001242896.3(DEPDC5):c.3185del (p.His1062fs)
|
rs2092345844
|
|
NM_001242896.3(DEPDC5):c.349C>G (p.Leu117Val)
|
rs2082843611
|
|
NM_001242896.3(DEPDC5):c.3515C>T (p.Thr1172Ile)
|
rs865860087
|
|
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)
|
rs879253976
|
|
NM_001252024.2(TRPM1):c.1623+1G>A
|
rs2033825467
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001256627.2(BRSK2):c.702C>A (p.His234Gln)
|
rs772319187
|
|
NM_001271.4(CHD2):c.1044del (p.Lys349fs)
|
rs2053407118
|
|
NM_001271.4(CHD2):c.1940C>T (p.Thr647Ile)
|
rs2053619599
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001271.4(CHD2):c.2332A>C (p.Asn778His)
|
rs985913320
|
|
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del)
|
rs2053946125
|
|
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro)
|
rs2053946404
|
|
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)
|
rs1064796496
|
|
NM_001271.4(CHD2):c.4138-1G>A
|
rs2054265721
|
|
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.4278+5T>A
|
rs202174434
|
|
NM_001271.4(CHD2):c.4349del (p.Gly1450fs)
|
rs2141876542
|
|
NM_001271.4(CHD2):c.4567C>T (p.Gln1523Ter)
|
rs372786805
|
|
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter)
|
rs1555439545
|
|
NM_001273.5(CHD4):c.4147+1G>T
|
rs2136203532
|
|
NM_001273.5(CHD4):c.85C>T (p.Pro29Ser)
|
rs1948696599
|
|
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro)
|
rs2064692485
|
|
NM_001278116.2(L1CAM):c.3458-5T>G
|
rs2064682754
|
|
NM_001281775.3(ZMYND8):c.2629C>T (p.Gln877Ter)
|
rs1135401783
|
|
NM_001282531.3(ADNP):c.-89-3923_201+2793inv
|
|
|
NM_001282531.3(ADNP):c.1184dup (p.Ser396fs)
|
rs1981038382
|
|
NM_001282531.3(ADNP):c.1239_1240del (p.Gln414fs)
|
rs1981021559
|
|
NM_001282531.3(ADNP):c.1592T>C (p.Met531Thr)
|
rs943246415
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2474G>A (p.Gly825Glu)
|
rs1980852871
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
NM_001282531.3(ADNP):c.67_70del (p.Leu23fs)
|
rs1982228705
|
|
NM_001282531.3(ADNP):c.886C>T (p.Arg296Trp)
|
rs1449967098
|
|
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu)
|
rs1227643933
|
|
NM_001291415.2(KDM6A):c.1265C>T (p.Ala422Val)
|
rs2044234734
|
|
NM_001291415.2(KDM6A):c.4232A>G (p.Gln1411Arg)
|
rs2046712711
|
|
NM_001291867.2(NHS):c.1008G>C (p.Gln336His)
|
rs2066405948
|
|
NM_001291867.2(NHS):c.230C>G (p.Pro77Arg)
|
rs2064344076
|
|
NM_001301130.2(POLR2F):c.294-2A>G
|
rs1932567269
|
|
NM_001303052.2(MYT1L):c.1533del (p.Cys511fs)
|
rs2052981382
|
|
NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn)
|
rs2052976421
|
|
NM_001303052.2(MYT1L):c.1579C>T (p.Leu527=)
|
rs2052975031
|
|
NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr)
|
rs1558371790
|
|
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)
|
rs878853045
|
|
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)
|
rs1253072668
|
|
NM_001303052.2(MYT1L):c.2423_2424del (p.Cys808fs)
|
rs2048544264
|
|
NM_001303052.2(MYT1L):c.2437G>A (p.Glu813Lys)
|
rs2048541733
|
|
NM_001303052.2(MYT1L):c.2671A>G (p.Ser891Gly)
|
rs2048197122
|
|
NM_001303052.2(MYT1L):c.459A>T (p.Glu153Asp)
|
rs2056825764
|
|
NM_001303052.2(MYT1L):c.505G>A (p.Glu169Lys)
|
rs2056816939
|
|
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp)
|
rs2053776375
|
|
NM_001308093.3(GATA4):c.142G>A (p.Val48Met)
|
rs773581495
|
|
NM_001317078.4(MED19):c.-2C>T
|
rs200909581
|
|
NM_001318510.2(ACSL4):c.-12-110T>C
|
rs1924349135
|
|
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly)
|
rs1603401125
|
|
NM_001318510.2(ACSL4):c.332C>A (p.Thr111Asn)
|
rs1412919038
|
|
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly)
|
rs751046231
|
|
NM_001318810.2(SLITRK3):c.1816G>T (p.Glu606Ter)
|
rs756582449
|
|
NM_001321075.3(DLG4):c.1363C>T (p.Arg455Cys)
|
rs1207600580
|
|
NM_001321075.3(DLG4):c.1412G>A (p.Trp471Ter)
|
rs2142830996
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001330078.2(NRXN1):c.1697T>C (p.Leu566Pro)
|
rs1667698491
|
|
NM_001330078.2(NRXN1):c.2731A>G (p.Thr911Ala)
|
rs2091701971
|
|
NM_001330078.2(NRXN1):c.3112T>G (p.Ser1038Ala)
|
rs2089576800
|
|
NM_001330078.2(NRXN1):c.773-1G>T
|
rs1574949440
|
|
NM_001330078.2(NRXN1):c.832+42589_832+123997del
|
|
|
NM_001330260.2(SCN8A):c.1236_1251del (p.Met412fs)
|
rs1941768692
|
|
NM_001330288.2(SMARCC2):c.172C>T (p.Gln58Ter)
|
rs1877432240
|
|
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)
|
rs1060505033
|
|
NM_001347721.2(DYRK1A):c.1006del (p.Trp336fs)
|
rs2148619667
|
|
NM_001347721.2(DYRK1A):c.1173del (p.Asp391fs)
|
rs2053265002
|
|
NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs)
|
rs724159956
|
|
NM_001347721.2(DYRK1A):c.1243del (p.His415fs)
|
rs2148649530
|
|
NM_001347721.2(DYRK1A):c.1270G>T (p.Gly424Ter)
|
rs1555990805
|
|
NM_001347721.2(DYRK1A):c.1357T>C (p.Tyr453His)
|
rs2053566512
|
|
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)
|
rs797045041
|
|
NM_001347721.2(DYRK1A):c.1951del (p.Ser651fs)
|
rs2148662758
|
|
NM_001347721.2(DYRK1A):c.263_264del (p.Ser88fs)
|
rs1064793546
|
|
NM_001347721.2(DYRK1A):c.301-1G>T
|
rs2052604910
|
|
NM_001347721.2(DYRK1A):c.450del (p.Arg149_Tyr150insTer)
|
rs2148582538
|
|
NM_001347721.2(DYRK1A):c.476G>A (p.Gly159Asp)
|
rs1064796406
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001347721.2(DYRK1A):c.594_597delinsGAA (p.Glu199fs)
|
rs724159950
|
|
NM_001347721.2(DYRK1A):c.637+4A>T
|
rs2052877663
|
|
NM_001347721.2(DYRK1A):c.638-2A>G
|
rs1057518474
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001347721.2(DYRK1A):c.737G>A (p.Arg246Gln)
|
rs2148612639
|
|
NM_001347721.2(DYRK1A):c.755del (p.Leu252fs)
|
rs2053040180
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg)
|
rs2148613074
|
|
NM_001347721.2(DYRK1A):c.909T>A (p.Cys303Ter)
|
rs1555984429
|
|
NM_001347721.2(DYRK1A):c.924+1G>C
|
rs2148613196
|
|
NM_001347721.2(DYRK1A):c.977del (p.Gly326fs)
|
rs2148619520
|
|
NM_001348323.3(TRIP12):c.1336G>T (p.Glu446Ter)
|
rs2053141794
|
|
NM_001348323.3(TRIP12):c.1486G>A (p.Ala496Thr)
|
rs2049053255
|
|
NM_001348323.3(TRIP12):c.2683C>T (p.Arg895Ter)
|
rs1195592039
|
|
NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter)
|
rs2043168875
|
|
NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs)
|
rs2041937196
|
|
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter)
|
rs1574994308
|
|
NM_001348716.2(KDM6B):c.1642A>C (p.Thr548Pro)
|
rs770970305
|
|
NM_001348716.2(KDM6B):c.1648A>C (p.Thr550Pro)
|
rs1361566141
|
|
NM_001348716.2(KDM6B):c.1670A>C (p.Asn557Thr)
|
rs2078598011
|
|
NM_001348716.2(KDM6B):c.2165A>C (p.Gln722Pro)
|
rs767953083
|
|
NM_001348716.2(KDM6B):c.2253CAC[8] (p.Thr760_Thr762del)
|
rs59627144
|
|
NM_001348716.2(KDM6B):c.2281_2286del (p.Thr761_Thr762del)
|
rs2078616927
|
|
NM_001348716.2(KDM6B):c.2524C>G (p.Pro842Ala)
|
rs1000777879
|
|
NM_001348716.2(KDM6B):c.3740C>G (p.Thr1247Ser)
|
rs1290256049
|
|
NM_001348716.2(KDM6B):c.4259C>T (p.Thr1420Ile)
|
rs201258301
|
|
NM_001348716.2(KDM6B):c.910G>A (p.Glu304Lys)
|
rs1345380228
|
|
NM_001348768.2(HECW2):c.2128G>T (p.Val710Leu)
|
rs753420806
|
|
NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs)
|
rs2108202536
|
|
NM_001348800.3(ZBTB20):c.1760T>G (p.Phe587Cys)
|
rs1576280892
|
|
NM_001348800.3(ZBTB20):c.1817A>C (p.His606Pro)
|
rs1576220938
|
|
NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg)
|
rs1576220405
|
|
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs)
|
rs1576288424
|
|
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His)
|
rs1576028676
|
|
NM_001349338.3(FOXP1):c.1183G>A (p.Ala395Thr)
|
rs376351360
|
|
NM_001349338.3(FOXP1):c.1350A>T (p.Ala450=)
|
rs2037865324
|
|
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly)
|
rs869025202
|
|
NM_001349338.3(FOXP1):c.1426C>T (p.Gln476Ter)
|
rs2107310122
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
NM_001349338.3(FOXP1):c.1652+5G>C
|
rs794727216
|
|
NM_001349338.3(FOXP1):c.1888G>T (p.Val630Leu)
|
rs772816590
|
|
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
|
|
|
NM_001352913.2(PPP2R5C):c.529G>A (p.Glu177Lys)
|
rs1595460164
|
|
NM_001353921.2(ARHGEF9):c.1141G>T (p.Val381Phe)
|
rs2048829571
|
|
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys)
|
rs1556301404
|
|
NM_001353921.2(ARHGEF9):c.881G>A (p.Arg294His)
|
rs2050116764
|
|
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)
|
rs2066265350
|
|
NM_001356.5(DDX3X):c.103+2T>C
|
rs2063787817
|
|
NM_001356.5(DDX3X):c.1195_1199dup (p.Tyr400Ter)
|
rs2063910640
|
|
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu)
|
rs2063922414
|
|
NM_001356.5(DDX3X):c.1398_1401del (p.Ala467fs)
|
rs2063922977
|
|
NM_001356.5(DDX3X):c.1537_1541del (p.Val513fs)
|
rs2063927827
|
|
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp)
|
rs2063928003
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter)
|
rs2063939905
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001356.5(DDX3X):c.40C>T (p.Gln14Ter)
|
rs1555950676
|
|
NM_001356.5(DDX3X):c.543+3_543+6del
|
rs2063869050
|
|
NM_001356.5(DDX3X):c.765+1G>A
|
rs2063885834
|
|
NM_001356.5(DDX3X):c.931C>T (p.Arg311Ter)
|
rs1453153749
|
|
NM_001356.5(DDX3X):c.968_972dup (p.Gly325fs)
|
rs2063893070
|
|
NM_001360.3(DHCR7):c.1105C>T (p.Leu369Phe)
|
rs1565584984
|
|
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)
|
rs2017489032
|
|
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro)
|
rs2013246660
|
|
NM_001365902.3(NFIX):c.477dup (p.Gly160fs)
|
rs2013265950
|
|
NM_001365951.3(KIF1B):c.2681C>T (p.Pro894Leu)
|
rs767893182
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001367721.1(CASK):c.1025C>T (p.Ala342Val)
|
rs2066303451
|
|
NM_001367721.1(CASK):c.1501A>G (p.Met501Val)
|
rs2065513776
|
|
NM_001367721.1(CASK):c.2381A>T (p.Asp794Val)
|
rs2064797651
|
|
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu)
|
rs2147495667
|
|
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)
|
rs2067197219
|
|
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
|
rs2067099763
|
|
NM_001367721.1(CASK):c.875_877del (p.Val292del)
|
rs2066559023
|
|
NM_001367873.1(SOX6):c.878dup (p.Gly294fs)
|
rs1849236698
|
|
NM_001367943.1(TCF7L2):c.288G>T (p.Lys96Asn)
|
|
|
NM_001368809.2(AMPD2):c.437A>G (p.Gln146Arg)
|
rs1650680448
|
|
NM_001370100.5(ZMYND11):c.1262G>A (p.Ser421Asn)
|
rs869320713
|
|
NM_001370348.2(PHF3):c.3890G>A (p.Arg1297His)
|
rs1767915033
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370785.2(LRRC7):c.3630T>G (p.Tyr1210Ter)
|
rs1135401780
|
|
NM_001371596.2(MFSD8):c.736A>T (p.Ser246Cys)
|
rs1739586527
|
|
NM_001371727.1(GABRB2):c.1008A>T (p.Gln336His)
|
|
|
NM_001371727.1(GABRB2):c.102G>A (p.Ser34=)
|
rs2113490210
|
|
NM_001371727.1(GABRB2):c.1039A>G (p.Ser347Gly)
|
rs780941452
|
|
NM_001371727.1(GABRB2):c.103C>T (p.Leu35=)
|
rs1581075337
|
|
NM_001371727.1(GABRB2):c.1040G>A (p.Ser347Asn)
|
rs1753820203
|
|
NM_001371727.1(GABRB2):c.1056G>A (p.Lys352=)
|
rs2113397440
|
|
NM_001371727.1(GABRB2):c.1057A>T (p.Met353Leu)
|
rs1014388930
|
|
NM_001371727.1(GABRB2):c.1060C>A (p.Arg354Ser)
|
rs41298406
|
|
NM_001371727.1(GABRB2):c.1061G>T (p.Arg354Leu)
|
rs371217448
|
|
NM_001371727.1(GABRB2):c.1065G>A (p.Leu355=)
|
|
|
NM_001371727.1(GABRB2):c.1066G>A (p.Asp356Asn)
|
rs1753818114
|
|
NM_001371727.1(GABRB2):c.1077+12G>A
|
|
|
NM_001371727.1(GABRB2):c.1077+14G>A
|
|
|
NM_001371727.1(GABRB2):c.1080T>A (p.Ile360=)
|
|
|
NM_001371727.1(GABRB2):c.1088A>G (p.Lys363Arg)
|
rs1561608651
|
|
NM_001371727.1(GABRB2):c.1094T>G (p.Ile365Ser)
|
rs1758366511
|
|
NM_001371727.1(GABRB2):c.1108A>G (p.Thr370Ala)
|
rs143130991
|
|
NM_001371727.1(GABRB2):c.1117C>A (p.Arg373=)
|
rs745319567
|
|
NM_001371727.1(GABRB2):c.1118G>T (p.Arg373Leu)
|
|
|
NM_001371727.1(GABRB2):c.1121C>T (p.Ser374Phe)
|
rs775375467
|
|
NM_001371727.1(GABRB2):c.1125G>T (p.Leu375Phe)
|
|
|
NM_001371727.1(GABRB2):c.1146C>T (p.Leu382=)
|
rs1266441926
|
|
NM_001371727.1(GABRB2):c.1153A>G (p.Thr385Ala)
|
rs201397195
|
|
NM_001371727.1(GABRB2):c.1155T>C (p.Thr385=)
|
rs1273490114
|
|
NM_001371727.1(GABRB2):c.1168A>C (p.Asn390His)
|
rs1026621473
|
|
NM_001371727.1(GABRB2):c.1171T>C (p.Tyr391His)
|
rs1580981280
|
|
NM_001371727.1(GABRB2):c.1174G>C (p.Asp392His)
|
rs150956270
|
|
NM_001371727.1(GABRB2):c.1178T>C (p.Phe393Ser)
|
rs2113389282
|
|
NM_001371727.1(GABRB2):c.117G>A (p.Thr39=)
|
rs866058026
|
|
NM_001371727.1(GABRB2):c.117G>C (p.Thr39=)
|
|
|
NM_001371727.1(GABRB2):c.1191+12A>T
|
|
|
NM_001371727.1(GABRB2):c.1191+13G>A
|
|
|
NM_001371727.1(GABRB2):c.1192-3C>T
|
|
|
NM_001371727.1(GABRB2):c.1192-7C>G
|
|
|
NM_001371727.1(GABRB2):c.1192-7C>T
|
rs2113334075
|
|
NM_001371727.1(GABRB2):c.1197C>T (p.Asp399=)
|
|
|
NM_001371727.1(GABRB2):c.1198C>A (p.Pro400Thr)
|
rs1757325283
|
|
NM_001371727.1(GABRB2):c.1210A>G (p.Ile404Val)
|
|
|
NM_001371727.1(GABRB2):c.1217T>A (p.Leu406Gln)
|
|
|
NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)
|
|
|
NM_001371727.1(GABRB2):c.1231A>G (p.Ile411Val)
|
rs2113333920
|
|
NM_001371727.1(GABRB2):c.1243A>G (p.Met415Val)
|
rs1338788033
|
|
NM_001371727.1(GABRB2):c.1249A>G (p.Thr417Ala)
|
|
|
NM_001371727.1(GABRB2):c.1252T>C (p.Ser418Pro)
|
|
|
NM_001371727.1(GABRB2):c.1256A>T (p.Glu419Val)
|
rs1757322902
|
|
NM_001371727.1(GABRB2):c.1257G>A (p.Glu419=)
|
|
|
NM_001371727.1(GABRB2):c.1260T>G (p.Ala420=)
|
rs778879790
|
|
NM_001371727.1(GABRB2):c.1274G>C (p.Gly425Ala)
|
rs2113333823
|
|
NM_001371727.1(GABRB2):c.1286G>A (p.Ser429Asn)
|
rs1580954153
|
|
NM_001371727.1(GABRB2):c.1290A>C (p.Thr430=)
|
|
|
NM_001371727.1(GABRB2):c.1293G>A (p.Met431Ile)
|
|
|
NM_001371727.1(GABRB2):c.1296A>G (p.Leu432=)
|
rs2113333752
|
|
NM_001371727.1(GABRB2):c.1301A>T (p.Tyr434Phe)
|
|
|
NM_001371727.1(GABRB2):c.1303G>A (p.Asp435Asn)
|
|
|
NM_001371727.1(GABRB2):c.1310C>G (p.Ser437Cys)
|
rs772398405
|
|
NM_001371727.1(GABRB2):c.1310C>T (p.Ser437Phe)
|
rs772398405
|
|
NM_001371727.1(GABRB2):c.1317C>T (p.Ile439=)
|
|
|
NM_001371727.1(GABRB2):c.1338G>A (p.Leu446=)
|
rs1757319355
|
|
NM_001371727.1(GABRB2):c.1346A>G (p.His449Arg)
|
|
|
NM_001371727.1(GABRB2):c.1349G>C (p.Ser450Thr)
|
rs61735410
|
|
NM_001371727.1(GABRB2):c.1357C>A (p.Arg453=)
|
rs1461566727
|
|
NM_001371727.1(GABRB2):c.1364C>T (p.Ala455Val)
|
rs2113333534
|
|
NM_001371727.1(GABRB2):c.1374A>G (p.Arg458=)
|
rs764850270
|
|
NM_001371727.1(GABRB2):c.1380G>A (p.Val460=)
|
|
|
NM_001371727.1(GABRB2):c.1386A>T (p.Gln462His)
|
rs2113333435
|
|
NM_001371727.1(GABRB2):c.1396C>T (p.Arg466Cys)
|
rs2113333414
|
|
NM_001371727.1(GABRB2):c.1398C>T (p.Arg466=)
|
rs2113333407
|
|
NM_001371727.1(GABRB2):c.1399C>T (p.Leu467=)
|
rs2113333399
|
|
NM_001371727.1(GABRB2):c.13C>A (p.Arg5=)
|
|
|
NM_001371727.1(GABRB2):c.1411G>T (p.Ala471Ser)
|
|
|
NM_001371727.1(GABRB2):c.1413C>T (p.Ala471=)
|
rs1757314735
|
|
NM_001371727.1(GABRB2):c.142G>C (p.Asp48His)
|
|
|
NM_001371727.1(GABRB2):c.146T>G (p.Ile49Ser)
|
rs2113490140
|
|
NM_001371727.1(GABRB2):c.1475G>A (p.Arg492His)
|
rs1757313373
|
|
NM_001371727.1(GABRB2):c.1501T>A (p.Phe501Ile)
|
rs2113333244
|
|
NM_001371727.1(GABRB2):c.1512C>T (p.Ile504=)
|
|
|
NM_001371727.1(GABRB2):c.151C>A (p.Leu51Met)
|
rs1760985866
|
|
NM_001371727.1(GABRB2):c.151C>G (p.Leu51Val)
|
rs1760985866
|
|
NM_001371727.1(GABRB2):c.1529A>T (p.Tyr510Phe)
|
|
|
NM_001371727.1(GABRB2):c.1531G>A (p.Val511Met)
|
rs77133486
|
|
NM_001371727.1(GABRB2):c.155G>C (p.Arg52Thr)
|
|
|
NM_001371727.1(GABRB2):c.169+5T>C
|
|
|
NM_001371727.1(GABRB2):c.170-14G>A
|
|
|
NM_001371727.1(GABRB2):c.170-14G>T
|
|
|
NM_001371727.1(GABRB2):c.170-3C>T
|
|
|
NM_001371727.1(GABRB2):c.170-9G>T
|
rs1581074359
|
|
NM_001371727.1(GABRB2):c.172C>T (p.Pro58Ser)
|
rs769551029
|
|
NM_001371727.1(GABRB2):c.177C>G (p.Pro59=)
|
rs996258829
|
|
NM_001371727.1(GABRB2):c.181G>T (p.Ala61Ser)
|
rs747969321
|
|
NM_001371727.1(GABRB2):c.190A>G (p.Met64Val)
|
rs2113486772
|
|
NM_001371727.1(GABRB2):c.195C>T (p.Asn65=)
|
rs1760943725
|
|
NM_001371727.1(GABRB2):c.196A>G (p.Ile66Val)
|
rs2113486744
|
|
NM_001371727.1(GABRB2):c.197T>C (p.Ile66Thr)
|
rs1760943617
|
|
NM_001371727.1(GABRB2):c.201C>T (p.Asp67=)
|
|
|
NM_001371727.1(GABRB2):c.204T>C (p.Ile68=)
|
rs2113486725
|
|
NM_001371727.1(GABRB2):c.207C>T (p.Ala69=)
|
|
|
NM_001371727.1(GABRB2):c.213C>A (p.Ile71=)
|
rs1351188868
|
|
NM_001371727.1(GABRB2):c.213C>T (p.Ile71=)
|
|
|
NM_001371727.1(GABRB2):c.224C>T (p.Ser75Phe)
|
|
|
NM_001371727.1(GABRB2):c.226G>C (p.Glu76Gln)
|
|
|
NM_001371727.1(GABRB2):c.228A>T (p.Glu76Asp)
|
|
|
NM_001371727.1(GABRB2):c.235A>T (p.Met79Leu)
|
|
|
NM_001371727.1(GABRB2):c.237+13A>G
|
|
|
NM_001371727.1(GABRB2):c.237+7A>G
|
|
|
NM_001371727.1(GABRB2):c.237G>A (p.Met79Ile)
|
|
|
NM_001371727.1(GABRB2):c.238-14T>C
|
|
|
NM_001371727.1(GABRB2):c.238-14del
|
rs539366743
|
|
NM_001371727.1(GABRB2):c.238-14dup
|
rs539366743
|
|
NM_001371727.1(GABRB2):c.238-19T>G
|
|
|
NM_001371727.1(GABRB2):c.238-9C>T
|
rs76657179
|
|
NM_001371727.1(GABRB2):c.23del (p.Gly8fs)
|
rs1581075690
|
|
NM_001371727.1(GABRB2):c.245C>A (p.Thr82Asn)
|
rs1561658011
|
|
NM_001371727.1(GABRB2):c.253A>G (p.Met85Val)
|
|
|
NM_001371727.1(GABRB2):c.275G>A (p.Arg92Lys)
|
rs1758064008
|
|
NM_001371727.1(GABRB2):c.301A>G (p.Ile101Val)
|
rs2113264009
|
|
NM_001371727.1(GABRB2):c.304C>T (p.Pro102Ser)
|
|
|
NM_001371727.1(GABRB2):c.316A>C (p.Thr106Pro)
|
|
|
NM_001371727.1(GABRB2):c.366C>T (p.Phe122=)
|
|
|
NM_001371727.1(GABRB2):c.371A>G (p.Asn124Ser)
|
|
|
NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)
|
|
|
NM_001371727.1(GABRB2):c.377A>G (p.Lys126Arg)
|
|
|
NM_001371727.1(GABRB2):c.378G>A (p.Lys126=)
|
|
|
NM_001371727.1(GABRB2):c.381G>A (p.Lys127=)
|
|
|
NM_001371727.1(GABRB2):c.394G>A (p.Gly132Arg)
|
rs868863837
|
|
NM_001371727.1(GABRB2):c.399G>A (p.Val133=)
|
rs974021905
|
|
NM_001371727.1(GABRB2):c.417G>A (p.Met139Ile)
|
rs78354289
|
|
NM_001371727.1(GABRB2):c.421C>T (p.Arg141Cys)
|
|
|
NM_001371727.1(GABRB2):c.422G>A (p.Arg141His)
|
rs1554102156
|
|
NM_001371727.1(GABRB2):c.430C>A (p.Pro144Thr)
|
|
|
NM_001371727.1(GABRB2):c.435T>C (p.Asp145=)
|
rs776727409
|
|
NM_001371727.1(GABRB2):c.441C>A (p.Thr147=)
|
|
|
NM_001371727.1(GABRB2):c.442G>A (p.Val148Ile)
|
rs1581004188
|
|
NM_001371727.1(GABRB2):c.444C>T (p.Val148=)
|
rs771899561
|
|
NM_001371727.1(GABRB2):c.458+20A>G
|
|
|
NM_001371727.1(GABRB2):c.458+3C>T
|
rs2113263600
|
|
NM_001371727.1(GABRB2):c.458+4T>A
|
|
|
NM_001371727.1(GABRB2):c.458+4T>G
|
rs2113263590
|
|
NM_001371727.1(GABRB2):c.458+5G>A
|
rs1758060204
|
|
NM_001371727.1(GABRB2):c.459-13A>G
|
|
|
NM_001371727.1(GABRB2):c.459A>G (p.Arg153=)
|
rs2113114646
|
|
NM_001371727.1(GABRB2):c.45C>G (p.Phe15Leu)
|
|
|
NM_001371727.1(GABRB2):c.468C>G (p.Thr156=)
|
|
|
NM_001371727.1(GABRB2):c.482T>C (p.Met161Thr)
|
rs1057521979
|
|
NM_001371727.1(GABRB2):c.48C>T (p.Pro16=)
|
rs1265831842
|
|
NM_001371727.1(GABRB2):c.490C>T (p.Leu164=)
|
|
|
NM_001371727.1(GABRB2):c.503del (p.Pro168fs)
|
|
|
NM_001371727.1(GABRB2):c.51A>C (p.Leu17Phe)
|
|
|
NM_001371727.1(GABRB2):c.51AAT[1] (p.Ile19del)
|
rs761010140
|
|
NM_001371727.1(GABRB2):c.522C>T (p.Cys174=)
|
|
|
NM_001371727.1(GABRB2):c.535G>A (p.Glu179Lys)
|
|
|
NM_001371727.1(GABRB2):c.541+7C>T
|
|
|
NM_001371727.1(GABRB2):c.541+8G>A
|
|
|
NM_001371727.1(GABRB2):c.542-32GT[6]
|
rs141330383
|
|
NM_001371727.1(GABRB2):c.542-32GT[7]
|
rs141330383
|
|
NM_001371727.1(GABRB2):c.542-32GT[9]
|
rs141330383
|
|
NM_001371727.1(GABRB2):c.542-3C>A
|
|
|
NM_001371727.1(GABRB2):c.553A>G (p.Thr185Ala)
|
|
|
NM_001371727.1(GABRB2):c.566A>T (p.Glu189Val)
|
rs1754004974
|
|
NM_001371727.1(GABRB2):c.56T>C (p.Ile19Thr)
|
rs2113490797
|
|
NM_001371727.1(GABRB2):c.578G>A (p.Arg193His)
|
rs373324958
|
|
NM_001371727.1(GABRB2):c.582C>T (p.Gly194=)
|
rs750096691
|
|
NM_001371727.1(GABRB2):c.583G>A (p.Asp195Asn)
|
|
|
NM_001371727.1(GABRB2):c.591T>A (p.Asn197Lys)
|
rs1426438345
|
|
NM_001371727.1(GABRB2):c.61G>T (p.Ala21Ser)
|
|
|
NM_001371727.1(GABRB2):c.624A>T (p.Pro208=)
|
|
|
NM_001371727.1(GABRB2):c.625C>G (p.Gln209Glu)
|
rs1554094279
|
|
NM_001371727.1(GABRB2):c.627_629del (p.Gln209_Phe210delinsHis)
|
rs2113408160
|
|
NM_001371727.1(GABRB2):c.632C>T (p.Ser211Phe)
|
rs2113408152
|
|
NM_001371727.1(GABRB2):c.639A>G (p.Val213=)
|
|
|
NM_001371727.1(GABRB2):c.658A>G (p.Lys220Glu)
|
rs1754001197
|
|
NM_001371727.1(GABRB2):c.663G>C (p.Lys221Asn)
|
rs777977171
|
|
NM_001371727.1(GABRB2):c.672T>A (p.Phe224Leu)
|
rs2113408096
|
|
NM_001371727.1(GABRB2):c.679+7A>G
|
rs1285127035
|
|
NM_001371727.1(GABRB2):c.680-16A>C
|
rs1245747762
|
|
NM_001371727.1(GABRB2):c.680-20T>G
|
|
|
NM_001371727.1(GABRB2):c.680-2A>G
|
rs1561612125
|
|
NM_001371727.1(GABRB2):c.680-3T>C
|
rs763357499
|
|
NM_001371727.1(GABRB2):c.680-3T>G
|
rs763357499
|
|
NM_001371727.1(GABRB2):c.685T>C (p.Tyr229His)
|
rs2113405112
|
|
NM_001371727.1(GABRB2):c.689C>A (p.Pro230His)
|
rs1753947094
|
|
NM_001371727.1(GABRB2):c.691A>G (p.Arg231Gly)
|
|
|
NM_001371727.1(GABRB2):c.693G>T (p.Arg231Ser)
|
|
|
NM_001371727.1(GABRB2):c.700C>T (p.Leu234Phe)
|
|
|
NM_001371727.1(GABRB2):c.70G>A (p.Ala24Thr)
|
|
|
NM_001371727.1(GABRB2):c.72G>A (p.Ala24=)
|
rs776799573
|
|
NM_001371727.1(GABRB2):c.72G>T (p.Ala24=)
|
rs776799573
|
|
NM_001371727.1(GABRB2):c.734T>G (p.Phe245Cys)
|
rs1561612106
|
|
NM_001371727.1(GABRB2):c.73C>A (p.Gln25Lys)
|
|
|
NM_001371727.1(GABRB2):c.745A>G (p.Thr249Ala)
|
|
|
NM_001371727.1(GABRB2):c.755C>T (p.Pro252Leu)
|
rs2113405030
|
|
NM_001371727.1(GABRB2):c.758C>G (p.Ser253Cys)
|
rs1753945485
|
|
NM_001371727.1(GABRB2):c.75G>A (p.Gln25=)
|
rs2113490694
|
|
NM_001371727.1(GABRB2):c.766A>G (p.Ile256Val)
|
|
|
NM_001371727.1(GABRB2):c.77+17T>C
|
|
|
NM_001371727.1(GABRB2):c.77+6T>A
|
rs1760991511
|
|
NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)
|
|
|
NM_001371727.1(GABRB2):c.78-15C>A
|
|
|
NM_001371727.1(GABRB2):c.78-20A>G
|
|
|
NM_001371727.1(GABRB2):c.78-3T>C
|
|
|
NM_001371727.1(GABRB2):c.780C>A (p.Ser260=)
|
rs1160036447
|
|
NM_001371727.1(GABRB2):c.780C>G (p.Ser260=)
|
rs1160036447
|
|
NM_001371727.1(GABRB2):c.798T>G (p.Ile266Met)
|
|
|
NM_001371727.1(GABRB2):c.813A>C (p.Ser271=)
|
|
|
NM_001371727.1(GABRB2):c.815C>T (p.Ala272Val)
|
rs1753943911
|
|
NM_001371727.1(GABRB2):c.828A>G (p.Ala276=)
|
|
|
NM_001371727.1(GABRB2):c.830T>C (p.Leu277Ser)
|
rs1554094145
|
|
NM_001371727.1(GABRB2):c.832+16A>T
|
rs1252746615
|
|
NM_001371727.1(GABRB2):c.832+9T>C
|
rs1057522438
|
|
NM_001371727.1(GABRB2):c.833-11T>A
|
rs1753825686
|
|
NM_001371727.1(GABRB2):c.833-14C>G
|
rs2113397954
|
|
NM_001371727.1(GABRB2):c.833-14C>T
|
rs2113397954
|
|
NM_001371727.1(GABRB2):c.833-4del
|
rs777633076
|
|
NM_001371727.1(GABRB2):c.833-4dup
|
|
|
NM_001371727.1(GABRB2):c.838A>G (p.Thr280Ala)
|
rs2113397917
|
|
NM_001371727.1(GABRB2):c.841A>G (p.Thr281Ala)
|
|
|
NM_001371727.1(GABRB2):c.842C>G (p.Thr281Ser)
|
rs1753825061
|
|
NM_001371727.1(GABRB2):c.844G>T (p.Val282Phe)
|
rs1561610490
|
|
NM_001371727.1(GABRB2):c.850A>G (p.Thr284Ala)
|
rs1561610483
|
|
NM_001371727.1(GABRB2):c.854T>C (p.Met285Thr)
|
|
|
NM_001371727.1(GABRB2):c.857C>A (p.Thr286Asn)
|
rs1753824585
|
|
NM_001371727.1(GABRB2):c.85G>A (p.Asp29Asn)
|
rs775606746
|
|
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile)
|
rs1753824440
|
|
NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr)
|
rs1064795444
|
|
NM_001371727.1(GABRB2):c.876C>T (p.Leu292=)
|
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)
|
|
|
NM_001371727.1(GABRB2):c.878G>C (p.Arg293Pro)
|
|
|
NM_001371727.1(GABRB2):c.880dup (p.Glu294fs)
|
|
|
NM_001371727.1(GABRB2):c.881A>G (p.Glu294Gly)
|
rs1014039541
|
|
NM_001371727.1(GABRB2):c.895A>G (p.Ile299Val)
|
rs1580984895
|
|
NM_001371727.1(GABRB2):c.895A>T (p.Ile299Phe)
|
rs1580984895
|
|
NM_001371727.1(GABRB2):c.901T>C (p.Tyr301His)
|
rs2113397784
|
|
NM_001371727.1(GABRB2):c.902A>G (p.Tyr301Cys)
|
rs1064794996
|
|
NM_001371727.1(GABRB2):c.902A>T (p.Tyr301Phe)
|
rs1064794996
|
|
NM_001371727.1(GABRB2):c.903T>C (p.Tyr301=)
|
|
|
NM_001371727.1(GABRB2):c.907A>G (p.Lys303Glu)
|
|
|
NM_001371727.1(GABRB2):c.908A>C (p.Lys303Thr)
|
rs1554093885
|
|
NM_001371727.1(GABRB2):c.909G>A (p.Lys303=)
|
rs886039375
|
|
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr)
|
rs1753822503
|
|
NM_001371727.1(GABRB2):c.933G>T (p.Gly311=)
|
rs1276507834
|
|
NM_001371727.1(GABRB2):c.940G>C (p.Val314Leu)
|
|
|
NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile)
|
rs1554093884
|
|
NM_001371727.1(GABRB2):c.95A>G (p.Asn32Ser)
|
|
|
NM_001371727.1(GABRB2):c.961C>T (p.Leu321=)
|
|
|
NM_001371727.1(GABRB2):c.981C>G (p.Asn327Lys)
|
rs2113397640
|
|
NM_001371727.1(GABRB2):c.987_992del (p.Phe330_Phe331del)
|
rs1753821539
|
|
NM_001371727.1(GABRB2):c.99del (p.Met33fs)
|
|
|
NM_001371928.1(AHDC1):c.1720G>T (p.Val574Leu)
|
rs746985425
|
|
NM_001371928.1(AHDC1):c.2135T>G (p.Val712Gly)
|
rs757820524
|
|
NM_001371928.1(AHDC1):c.3078_3079insCA (p.Gly1027fs)
|
rs2019359088
|
|
NM_001371928.1(AHDC1):c.3212C>T (p.Pro1071Leu)
|
rs1207775129
|
|
NM_001371928.1(AHDC1):c.3320A>C (p.Gln1107Pro)
|
rs745613671
|
|
NM_001371928.1(AHDC1):c.3384C>A (p.Tyr1128Ter)
|
rs2019335082
|
|
NM_001372044.2(SHANK3):c.2300+3G>C
|
rs2083163077
|
|
NM_001372044.2(SHANK3):c.2990del (p.Pro997fs)
|
rs2083275928
|
|
NM_001372044.2(SHANK3):c.3134_3149dup (p.Pro1051fs)
|
rs1555910048
|
|
NM_001372044.2(SHANK3):c.3162_3165del (p.Phe1056fs)
|
rs2083278122
|
|
NM_001372044.2(SHANK3):c.3325del (p.Ala1109fs)
|
rs2083280269
|
|
NM_001372044.2(SHANK3):c.3574C>T (p.Arg1192Ter)
|
rs387906932
|
|
NM_001372044.2(SHANK3):c.3597del (p.Ser1200fs)
|
rs2083283892
|
|
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
|
rs886041238
|
|
NM_001372044.2(SHANK3):c.4193del (p.Leu1398fs)
|
rs2083292400
|
|
NM_001372044.2(SHANK3):c.4290_4291del (p.Val1432fs)
|
rs2083293616
|
|
NM_001372044.2(SHANK3):c.5011_5012del (p.Gly1671fs)
|
rs1385882031
|
|
NM_001374828.1(ARID1B):c.1303GGC[7] (p.Gly440dup)
|
rs797045268
|
|
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs)
|
rs1417035592
|
|
NM_001374828.1(ARID1B):c.1619CGG[3] (p.Ala543del)
|
rs757953295
|
|
NM_001374828.1(ARID1B):c.1693del (p.Gln565fs)
|
rs1779015991
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001374828.1(ARID1B):c.2051_2052insAA (p.Tyr684Ter)
|
rs1554265275
|
|
NM_001374828.1(ARID1B):c.2496del (p.Gln833fs)
|
rs1786823829
|
|
NM_001374828.1(ARID1B):c.3089+6C>T
|
rs1203684217
|
|
NM_001374828.1(ARID1B):c.3245G>T (p.Gly1082Val)
|
rs1303647267
|
|
NM_001374828.1(ARID1B):c.344C>G (p.Ala115Gly)
|
rs935320680
|
|
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)
|
rs1554231836
|
|
NM_001374828.1(ARID1B):c.4990C>T (p.Gln1664Ter)
|
rs1554235882
|
|
NM_001374828.1(ARID1B):c.5394+1G>C
|
rs1057518984
|
|
NM_001374828.1(ARID1B):c.591GCA[4] (p.Gln212_Gln214del)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.591GCA[5] (p.Gln213_Gln214del)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.612_620dup (p.Gln212_Gln214dup)
|
rs797045274
|
|
NM_001374828.1(ARID1B):c.615GCA[10] (p.Gln212_Gln214dup)
|
rs587779744
|
|
NM_001374828.1(ARID1B):c.6823del (p.Gln2275fs)
|
rs1794563443
|
|
NM_001374828.1(ARID1B):c.799G>C (p.Asp267His)
|
rs1778855554
|
|
NM_001375380.1(EBF3):c.1038C>T (p.Thr346=)
|
rs142165671
|
|
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)
|
rs1259041590
|
|
NM_001375380.1(EBF3):c.1759+8T>G
|
rs1849925996
|
|
NM_001376.5(DYNC1H1):c.10031G>A (p.Arg3344Gln)
|
rs397509412
|
|
NM_001376.5(DYNC1H1):c.10684T>A (p.Trp3562Arg)
|
rs2048546391
|
|
NM_001376.5(DYNC1H1):c.10973G>A (p.Gly3658Glu)
|
rs1595629181
|
|
NM_001376.5(DYNC1H1):c.11309T>C (p.Leu3770Pro)
|
rs2048611654
|
|
NM_001376.5(DYNC1H1):c.11870T>C (p.Phe3957Ser)
|
rs2048637475
|
|
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys)
|
rs2047950288
|
|
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg)
|
rs2047998539
|
|
NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr)
|
rs1595609005
|
|
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)
|
rs797044901
|
|
NM_001376.5(DYNC1H1):c.5507T>C (p.Phe1836Ser)
|
rs2048192344
|
|
NM_001376.5(DYNC1H1):c.599T>C (p.Ile200Thr)
|
rs2047842129
|
|
NM_001376.5(DYNC1H1):c.6151dup (p.Gln2051fs)
|
rs2048240046
|
|
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His)
|
rs1236304133
|
|
NM_001376.5(DYNC1H1):c.8684_8687del (p.Ala2895fs)
|
rs2048454562
|
|
NM_001376.5(DYNC1H1):c.8887-8T>C
|
rs2048462761
|
|
NM_001377.3(DYNC2H1):c.10181CAA[1] (p.Thr3395del)
|
rs572595399
|
|
NM_001377.3(DYNC2H1):c.12734T>C (p.Val4245Ala)
|
rs1324023747
|
|
NM_001377.3(DYNC2H1):c.12836G>C (p.Arg4279Pro)
|
rs541028343
|
|
NM_001377.3(DYNC2H1):c.4966C>T (p.Gln1656Ter)
|
rs1861453541
|
|
NM_001378026.1(NBEAL1):c.7934+1G>A
|
rs2065777024
|
|
NM_001378120.1(MBD5):c.1379_1389del (p.Ser460fs)
|
rs1680708290
|
|
NM_001378120.1(MBD5):c.3079A>G (p.Thr1027Ala)
|
rs1681239379
|
|
NM_001378120.1(MBD5):c.323C>T (p.Ala108Val)
|
rs1707174579
|
|
NM_001378120.1(MBD5):c.3987del (p.Ser1330fs)
|
rs1681453811
|
|
NM_001378120.1(MBD5):c.4648del (p.Gln1550fs)
|
rs1681481862
|
|
NM_001378120.1(MBD5):c.670C>T (p.Pro224Ser)
|
rs1680672685
|
|
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)
|
rs1553518509
|
|
NM_001378120.1(MBD5):c.998C>A (p.Pro333His)
|
rs1680687635
|
|
NM_001378414.1(HDAC4):c.565C>T (p.Arg189Trp)
|
rs746764988
|
|
NM_001378418.1(TCF20):c.3760dup (p.Arg1254fs)
|
rs1569146649
|
|
NM_001378418.1(TCF20):c.3803_3804del (p.Arg1268fs)
|
rs1569146542
|
|
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)
|
rs2093873717
|
|
NM_001378452.1(ITPR1):c.1760A>T (p.Tyr587Phe)
|
rs757318302
|
|
NM_001378452.1(ITPR1):c.6525C>G (p.Asn2175Lys)
|
rs2046991703
|
|
NM_001378452.1(ITPR1):c.8029-4C>A
|
rs1360786935
|
|
NM_001378454.1(ALMS1):c.4820dup (p.Thr1608fs)
|
rs758098717
|
|
NM_001379110.1(SLC9A6):c.1195-4_1201delinsAGGTTGCTG
|
rs2071146308
|
|
NM_001379110.1(SLC9A6):c.1582-35del
|
rs2071360131
|
|
NM_001379110.1(SLC9A6):c.370-9_370-5del
|
rs796053290
|
|
NM_001379110.1(SLC9A6):c.637+1G>A
|
rs1603198937
|
|
NM_001379291.1(BRD4):c.3693_3709dup (p.Arg1237fs)
|
|
|
NM_001379403.1(WDR26):c.1944+1G>C
|
rs1673322799
|
|
NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys)
|
rs1464137864
|
|
NM_001382347.1(MYO5A):c.1194T>A (p.Asn398Lys)
|
rs2042532335
|
|
NM_001382347.1(MYO5A):c.2481G>T (p.Met827Ile)
|
rs1252205617
|
|
NM_001385012.1(NBEA):c.1035T>G (p.Tyr345Ter)
|
rs779780049
|
|
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu)
|
rs2069582666
|
|
NM_001385012.1(NBEA):c.8322G>A (p.Trp2774Ter)
|
rs2153082059
|
|
NM_001386298.1(CIC):c.3122C>G (p.Ser1041Cys)
|
rs2037716622
|
|
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)
|
rs1951071576
|
|
NM_001389.5(DSCAM):c.1337C>T (p.Pro446Leu)
|
|
|
NM_001389.5(DSCAM):c.1783G>C (p.Val595Leu)
|
rs2074447466
|
|
NM_001389.5(DSCAM):c.2725_2731del (p.Phe909fs)
|
rs2090903586
|
|
NM_001389.5(DSCAM):c.3049A>T (p.Ile1017Phe)
|
rs2090334314
|
|
NM_001389.5(DSCAM):c.5362G>A (p.Val1788Ile)
|
rs748431627
|
|
NM_001393769.1(MED12L):c.1746dup (p.Ser583fs)
|
rs1559855453
|
|
NM_001393769.1(MED12L):c.4482G>A (p.Met1494Ile)
|
rs1560103306
|
|
NM_001393769.1(MED12L):c.4791-1G>A
|
rs1560108090
|
|
NM_001393769.1(MED12L):c.5476C>T (p.Arg1826Ter)
|
rs1560115921
|
|
NM_001394062.1(MACF1):c.13272C>A (p.Cys4424Ter)
|
rs1028771268
|
|
NM_001394062.1(MACF1):c.18092G>A (p.Cys6031Tyr)
|
rs1644015557
|
|
NM_001394372.1(BICRA):c.3247dup (p.Cys1083fs)
|
rs1973345860
|
|
NM_001394998.1(TANC2):c.3453G>C (p.Gln1151His)
|
rs2048465506
|
|
NM_001394998.1(TANC2):c.3619G>T (p.Gly1207Ter)
|
rs2048703168
|
|
NM_001394998.1(TANC2):c.3765+1G>T
|
rs2048707664
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.3038A>G (p.Glu1013Gly)
|
|
|
NM_001429.4(EP300):c.3901T>G (p.Phe1301Val)
|
rs766262045
|
|
NM_001429.4(EP300):c.4484T>A (p.Leu1495Ter)
|
rs2059176668
|
|
NM_001429.4(EP300):c.5987G>C (p.Ser1996Thr)
|
rs2059210090
|
|
NM_001482.3(GATM):c.256G>T (p.Ala86Ser)
|
rs1889641277
|
|
NM_001493.3(GDI1):c.1173_1174insACATGAT (p.Asp392delinsThrTer)
|
rs2068757385
|
|
NM_001493.3(GDI1):c.578G>T (p.Arg193Leu)
|
rs782755945
|
|
NM_001543.5(NDST1):c.1438-7T>G
|
rs1302551197
|
|
NM_001543.5(NDST1):c.1749+8dup
|
rs528143978
|
|
NM_001543.5(NDST1):c.176C>G (p.Pro59Arg)
|
rs559367014
|
|
NM_001614.5(ACTG1):c.124-4G>C
|
rs782481421
|
|
NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)
|
rs1555661648
|
|
NM_001830.4(CLCN4):c.820G>A (p.Gly274Ser)
|
rs1924398104
|
|
NM_001830.4(CLCN4):c.856T>A (p.Phe286Ile)
|
rs2147179487
|
|
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)
|
rs1064796023
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
NM_001852.4(COL9A2):c.1145G>T (p.Gly382Val)
|
rs1431787303
|
|
NM_001904.4(CTNNB1):c.1408C>T (p.His470Tyr)
|
rs2078364837
|
|
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)
|
rs1553631860
|
|
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter)
|
rs886039332
|
|
NM_001904.4(CTNNB1):c.1768dup (p.Ile590fs)
|
rs1575333081
|
|
NM_001904.4(CTNNB1):c.23T>C (p.Met8Thr)
|
|
|
NM_001904.4(CTNNB1):c.555del (p.Arg185fs)
|
rs2078151677
|
|
NM_001904.4(CTNNB1):c.942del (p.Ile315fs)
|
rs2078196892
|
|
NM_001913.5(CUX1):c.63+1G>A
|
rs1791729069
|
|
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)
|
rs2073222422
|
|
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)
|
rs1568994522
|
|
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)
|
rs587777162
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_002024.6(FMR1):c.420-8A>G
|
rs886041088
|
|
NM_002024.6(FMR1):c.479C>T (p.Thr160Ile)
|
rs2043536419
|
|
NM_002024.6(FMR1):c.663del (p.Glu221fs)
|
|
|
NM_002024.6(FMR1):c.673G>A (p.Val225Ile)
|
|
|
NM_002024.6(FMR1):c.990+1G>A
|
rs886041089
|
|
NM_002025.4(AFF2):c.179A>G (p.Tyr60Cys)
|
rs2054208783
|
|
NM_002025.4(AFF2):c.3229C>T (p.Gln1077Ter)
|
rs1603350606
|
|
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
|
rs1135401746
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.274G>A (p.Ala92Thr)
|
rs1557889974
|
|
NM_002074.5(GNB1):c.343G>A (p.Gly115Ser)
|
rs1646670170
|
|
NM_002161.6(IARS1):c.3688A>G (p.Asn1230Asp)
|
rs1839822983
|
|
NM_002223.4(ITPR2):c.541A>G (p.Lys181Glu)
|
rs1020261536
|
|
NM_002291.3(LAMB1):c.5002del (p.Glu1668fs)
|
rs1278743247
|
|
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg)
|
rs1227804681
|
|
NM_002397.5(MEF2C):c.766C>T (p.Arg256Ter)
|
rs796052733
|
|
NM_002397.5(MEF2C):c.810+1G>A
|
rs1761749684
|
|
NM_002516.4(NOVA2):c.729del (p.Ala244fs)
|
rs2146406775
|
|
NM_002529.4(NTRK1):c.2271C>G (p.Tyr757Ter)
|
rs141540032
|
|
NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg)
|
rs1569459580
|
|
NM_002578.5(PAK3):c.276+4A>G
|
rs1569398769
|
|
NM_002578.5(PAK3):c.379G>T (p.Asp127Tyr)
|
rs2093969404
|
|
NM_002641.4(PIGA):c.178C>G (p.Leu60Val)
|
rs1922166519
|
|
NM_002641.4(PIGA):c.287T>C (p.Val96Ala)
|
rs866734779
|
|
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs)
|
rs2129224282
|
|
NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg)
|
rs2122521078
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002768.5(CHMP1A):c.252+5G>T
|
rs1597787678
|
|
NM_002816.5(PSMD12):c.795+1G>A
|
rs2041974262
|
|
NM_002830.4(PTPN4):c.1738G>T (p.Asp580Tyr)
|
rs1679218434
|
|
NM_002834.5(PTPN11):c.1040A>G (p.Gln347Arg)
|
rs2038533815
|
|
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
|
rs397507536
|
|
NM_002839.4(PTPRD):c.4078G>A (p.Glu1360Lys)
|
rs888423638
|
|
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
|
rs989031241
|
|
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)
|
rs2055786277
|
|
NM_002941.4(ROBO1):c.3800C>A (p.Pro1267Gln)
|
rs1704874919
|
|
NM_002941.4(ROBO1):c.4259G>T (p.Arg1420Leu)
|
rs778040289
|
|
NM_003011.4(SET):c.130_133del (p.Arg44fs)
|
rs1554776342
|
|
NM_003036.4(SKI):c.1351dup (p.Gln451fs)
|
rs1640495100
|
|
NM_003042.4(SLC6A1):c.1600C>T (p.Gln534Ter)
|
rs1698067880
|
|
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)
|
rs1697264007
|
|
NM_003042.4(SLC6A1):c.690G>A (p.Trp230Ter)
|
rs1697443771
|
|
NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val)
|
rs1697444014
|
|
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
|
|
|
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)
|
rs1574907198
|
|
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn)
|
rs1057518990
|
|
NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys)
|
rs1586657809
|
|
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)
|
rs1586657848
|
|
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val)
|
rs1586660338
|
|
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys)
|
rs1586660370
|
|
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His)
|
rs1586660381
|
|
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val)
|
rs1586660389
|
|
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn)
|
rs863224922
|
|
NM_003070.5(SMARCA2):c.2184+5T>C
|
|
|
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg)
|
rs1821584135
|
|
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)
|
rs1554623112
|
|
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val)
|
rs1586692481
|
|
NM_003070.5(SMARCA2):c.2795T>C (p.Ile932Thr)
|
rs1586692509
|
|
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys)
|
rs1586692548
|
|
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)
|
rs1586692551
|
|
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu)
|
rs1586692551
|
|
NM_003070.5(SMARCA2):c.3040A>G (p.Lys1014Glu)
|
rs1586701712
|
|
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)
|
rs281875189
|
|
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys)
|
rs1823200345
|
|
NM_003070.5(SMARCA2):c.3754del (p.Leu1252fs)
|
rs1823357335
|
|
NM_003072.5(SMARCA4):c.413G>T (p.Gly138Val)
|
rs11537672
|
|
NM_003073.5(SMARCB1):c.31G>A (p.Gly11Arg)
|
rs1555875308
|
|
NM_003079.5(SMARCE1):c.774del (p.Lys258fs)
|
rs2037096557
|
|
NM_003107.3(SOX4):c.739_762del (p.Leu247_Ala254del)
|
rs1243114021
|
|
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)
|
rs1597665063
|
|
NM_003124.5(SPR):c.305-2A>G
|
rs1573882268
|
|
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu)
|
rs2038452898
|
|
NM_003335.3(UBA7):c.1904+3A>G
|
rs2081514066
|
|
NM_003403.5(YY1):c.1106A>G (p.Asn369Ser)
|
rs2139605753
|
|
NM_003439.4(ZKSCAN1):c.1410C>G (p.Phe470Leu)
|
rs1224233696
|
|
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs)
|
rs2141185978
|
|
NM_003482.4(KMT2D):c.11132C>G (p.Pro3711Arg)
|
rs967055107
|
|
NM_003482.4(KMT2D):c.11226GCA[5] (p.Gln3745dup)
|
rs760816616
|
|
NM_003482.4(KMT2D):c.11838A>C (p.Gln3946His)
|
rs1421051475
|
|
NM_003482.4(KMT2D):c.11886A>T (p.Gln3962His)
|
rs180784366
|
|
NM_003482.4(KMT2D):c.12568A>T (p.Ile4190Phe)
|
rs1565774358
|
|
NM_003482.4(KMT2D):c.13433G>C (p.Arg4478Pro)
|
rs200156008
|
|
NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs)
|
rs1942891632
|
|
NM_003482.4(KMT2D):c.14969T>C (p.Leu4990Pro)
|
rs1942629941
|
|
NM_003482.4(KMT2D):c.15962A>G (p.Tyr5321Cys)
|
rs1942487296
|
|
NM_003482.4(KMT2D):c.4128_4129delinsAA (p.Met1376_Gln1377delinsIleLys)
|
rs1937708623
|
|
NM_003482.4(KMT2D):c.538G>T (p.Ala180Ser)
|
rs1938253682
|
|
NM_003482.4(KMT2D):c.5921C>G (p.Thr1974Arg)
|
rs777415982
|
|
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)
|
rs1452715535
|
|
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)
|
rs1057524031
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003491.4(NAA10):c.248G>A (p.Arg83His)
|
rs1603290366
|
|
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
|
|
|
NM_003491.4(NAA10):c.47A>C (p.His16Pro)
|
rs2065185202
|
|
NM_003590.5(CUL3):c.1445_1446del (p.Thr482fs)
|
rs1692450883
|
|
NM_003590.5(CUL3):c.602_603dup (p.Glu202fs)
|
rs1692922192
|
|
NM_003590.5(CUL3):c.743_744dup (p.Met249Ter)
|
rs1692824104
|
|
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)
|
|
|
NM_003611.3(OFD1):c.172C>G (p.Gln58Glu)
|
rs2046874934
|
|
NM_003611.3(OFD1):c.2954G>A (p.Gly985Asp)
|
rs2048228026
|
|
NM_003611.3(OFD1):c.382G>A (p.Val128Ile)
|
rs766600036
|
|
NM_003619.4(PRSS12):c.19G>A (p.Val7Met)
|
rs148007619
|
|
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys)
|
rs759438615
|
|
NM_003718.5(CDK13):c.1219G>A (p.Gly407Arg)
|
rs1784365827
|
|
NM_003718.5(CDK13):c.1654T>G (p.Leu552Val)
|
rs1784377641
|
|
NM_003748.4(ALDH4A1):c.103G>A (p.Glu35Lys)
|
rs150027463
|
|
NM_003748.4(ALDH4A1):c.499A>T (p.Ile167Phe)
|
rs923744167
|
|
NM_003805.5(CRADD):c.285dup (p.Asp96fs)
|
rs1555213545
|
|
NM_003805.5(CRADD):c.2T>C (p.Met1Thr)
|
rs772665884
|
|
NM_003859.3(DPM1):c.471G>C (p.Trp157Cys)
|
rs1985883778
|
|
NM_003896.4(ST3GAL5):c.1255T>C (p.Ter419Arg)
|
rs1681835024
|
|
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)
|
rs1573589807
|
|
NM_003922.4(HERC1):c.2044C>T (p.His682Tyr)
|
rs2075171059
|
|
NM_003922.4(HERC1):c.7561G>A (p.Ala2521Thr)
|
rs963612854
|
|
NM_003922.4(HERC1):c.8639A>C (p.His2880Pro)
|
rs765979907
|
|
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter)
|
rs778229060
|
|
NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs)
|
rs1562159599
|
|
NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)
|
rs1562159562
|
|
NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter)
|
rs1562159088
|
|
NM_003966.3(SEMA5A):c.741C>A (p.Phe247Leu)
|
|
|
NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter)
|
rs1828368702
|
|
NM_004006.3(DMD):c.10839_10840del (p.Pro3614fs)
|
rs2036696920
|
|
NM_004187.5(KDM5C):c.1296dup (p.Glu433Ter)
|
rs878853151
|
|
NM_004187.5(KDM5C):c.1464C>A (p.Cys488Ter)
|
rs2073534632
|
|
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg)
|
rs2073528836
|
|
NM_004187.5(KDM5C):c.1786A>C (p.Thr596Pro)
|
rs2073152759
|
|
NM_004187.5(KDM5C):c.2152G>C (p.Ala718Pro)
|
rs878853141
|
|
NM_004187.5(KDM5C):c.2381_2382del (p.Leu794fs)
|
rs2073044253
|
|
NM_004187.5(KDM5C):c.3299A>G (p.Glu1100Gly)
|
rs1934748124
|
|
NM_004187.5(KDM5C):c.47T>G (p.Val16Gly)
|
rs2073996588
|
|
NM_004187.5(KDM5C):c.709C>T (p.Gln237Ter)
|
rs1602226289
|
|
NM_004269.4(MED27):c.878C>T (p.Pro293Leu)
|
rs1218659650
|
|
NM_004333.6(BRAF):c.16_40del (p.Gly6fs)
|
rs2129153395
|
|
NM_004366.6(CLCN2):c.1373C>G (p.Ala458Gly)
|
rs772617403
|
|
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)
|
rs143247685
|
|
NM_004380.3(CREBBP):c.3442C>G (p.Gln1148Glu)
|
rs2052626228
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.4134-4T>A
|
rs2052155482
|
|
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)
|
rs2051863859
|
|
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)
|
rs2051852330
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
NM_004380.3(CREBBP):c.7002G>C (p.Gln2334His)
|
rs2051794294
|
|
NM_004446.3(EPRS1):c.1459A>G (p.Met487Val)
|
|
|
NM_004463.3(FGD1):c.1093T>C (p.Ser365Pro)
|
rs377155391
|
|
NM_004463.3(FGD1):c.17C>A (p.Ala6Asp)
|
rs1161949227
|
|
NM_004463.3(FGD1):c.515G>A (p.Arg172Gln)
|
rs1342329216
|
|
NM_004484.4(GPC3):c.881A>G (p.Lys294Arg)
|
rs2071691139
|
|
NM_004519.4(KCNQ3):c.1657G>A (p.Gly553Arg)
|
rs1825159081
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004519.4(KCNQ3):c.1973A>G (p.Tyr658Cys)
|
rs1423597114
|
|
NM_004519.4(KCNQ3):c.688C>A (p.Arg230Ser)
|
rs796052676
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
|
|
|
NM_004523.4(KIF11):c.1628A>G (p.Asn543Ser)
|
rs1844750557
|
|
NM_004525.3(LRP2):c.9496A>G (p.Lys3166Glu)
|
rs1423836845
|
|
NM_004535.3(MYT1):c.2460C>A (p.Ser820Arg)
|
rs1362578761
|
|
NM_004535.3(MYT1):c.655G>C (p.Glu219Gln)
|
rs1983531708
|
|
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln)
|
rs1983540456
|
|
NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly)
|
rs2067699201
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
NM_004586.3(RPS6KA3):c.328C>T (p.Arg110Ter)
|
rs1555943484
|
|
NM_004595.5(SMS):c.905C>T (p.Ser302Leu)
|
rs1925241775
|
|
NM_004606.5(TAF1):c.2714G>A (p.Gly905Asp)
|
rs2034442612
|
|
NM_004606.5(TAF1):c.2993G>T (p.Arg998Leu)
|
rs773557452
|
|
NM_004606.5(TAF1):c.3184C>T (p.Arg1062Cys)
|
rs2034677583
|
|
NM_004606.5(TAF1):c.715G>A (p.Val239Met)
|
rs2033574124
|
|
NM_004615.4(TSPAN7):c.190G>A (p.Gly64Arg)
|
rs1556001023
|
|
NM_004615.4(TSPAN7):c.516del (p.Ser173fs)
|
rs752121179
|
|
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly)
|
rs2068797192
|
|
NM_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
NM_004722.4(AP4M1):c.974+2dup
|
rs1437308674
|
|
NM_004774.4(MED1):c.2195C>T (p.Thr732Met)
|
rs1181801639
|
|
NM_004774.4(MED1):c.763G>A (p.Ala255Thr)
|
rs2048498295
|
|
NM_004830.4(MED23):c.40-7_40-5del
|
rs200823095
|
|
NM_004830.4(MED23):c.953del (p.Glu318fs)
|
rs1776174152
|
|
NM_004859.4(CLTC):c.4366C>T (p.Gln1456Ter)
|
rs2033126192
|
|
NM_004879.5(EI24):c.742C>T (p.Pro248Ser)
|
rs1938981293
|
|
NM_004933.3(CDH15):c.2288A>G (p.Tyr763Cys)
|
|
|
NM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter)
|
rs2270416
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_004975.4(KCNB1):c.1106G>A (p.Trp369Ter)
|
rs1984252016
|
|
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn)
|
rs1569017160
|
|
NM_004975.4(KCNB1):c.1115C>T (p.Thr372Ile)
|
rs1569017160
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr)
|
rs1569017025
|
|
NM_004975.4(KCNB1):c.1398G>C (p.Glu466Asp)
|
rs1984236966
|
|
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter)
|
rs1569016820
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.643C>T (p.Gln215Ter)
|
rs1601071971
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005045.4(RELN):c.10306A>G (p.Met3436Val)
|
rs1257276738
|
|
NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn)
|
rs754901294
|
|
NM_005097.4(LGI1):c.1103A>G (p.Tyr368Cys)
|
rs2059988321
|
|
NM_005097.4(LGI1):c.608C>A (p.Pro203His)
|
rs2059948035
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys)
|
rs868164882
|
|
NM_005120.3(MED12):c.4685T>G (p.Leu1562Arg)
|
rs2092327068
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.5915C>T (p.Pro1972Leu)
|
rs2092336469
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.647G>T (p.Gly216Val)
|
rs2092288219
|
|
NM_005216.5(DDOST):c.552G>A (p.Gly184=)
|
rs1570414485
|
|
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
|
|
|
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)
|
rs587783640
|
|
NM_005271.5(GLUD1):c.1198-6T>C
|
rs1415334667
|
|
NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr)
|
rs1555455456
|
|
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)
|
rs397515486
|
|
NM_005334.3(HCFC1):c.958C>T (p.Arg320Cys)
|
rs2065418213
|
|
NM_005343.4(HRAS):c.518C>T (p.Pro173Leu)
|
rs1171786943
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005378.6(MYCN):c.494C>A (p.Ala165Asp)
|
rs1267366929
|
|
NM_005402.4(RALA):c.73G>A (p.Val25Met)
|
rs1554297905
|
|
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg)
|
rs1861180567
|
|
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
|
rs886041239
|
|
NM_005458.8(GABBR2):c.1649_1658del (p.Glu550fs)
|
rs1832059147
|
|
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)
|
rs1830549152
|
|
NM_005458.8(GABBR2):c.2413-3T>C
|
rs1830432060
|
|
NM_005458.8(GABBR2):c.324C>A (p.Cys108Ter)
|
rs145095054
|
|
NM_005629.4(SLC6A8):c.1016+2_1016+5del
|
rs2148363006
|
|
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
|
rs1557045250
|
|
NM_005629.4(SLC6A8):c.1429_1430del (p.Ser477fs)
|
rs2091475771
|
|
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)
|
rs122453113
|
|
NM_005859.5(PURA):c.159dup (p.Leu54fs)
|
rs1554129040
|
|
NM_005859.5(PURA):c.430A>G (p.Lys144Glu)
|
rs1581036396
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_005859.5(PURA):c.955G>C (p.Gly319Arg)
|
rs1763059359
|
|
NM_005862.3(STAG1):c.1736dup (p.Ser580fs)
|
rs1553718528
|
|
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs)
|
rs2057404166
|
|
NM_005908.4(MANBA):c.2189C>G (p.Pro730Arg)
|
rs1729558557
|
|
NM_005908.4(MANBA):c.796A>G (p.Ile266Val)
|
rs1424334315
|
|
NM_005938.4(FOXO4):c.830A>C (p.Glu277Ala)
|
rs2147734991
|
|
NM_006015.6(ARID1A):c.5309G>A (p.Gly1770Asp)
|
rs747674955
|
|
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu)
|
rs764060744
|
|
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)
|
rs869312956
|
|
NM_006059.4(LAMC3):c.4639G>A (p.Glu1547Lys)
|
rs780728013
|
|
NM_006059.4(LAMC3):c.842G>A (p.Gly281Asp)
|
rs1268185118
|
|
NM_006059.4(LAMC3):c.904G>A (p.Glu302Lys)
|
rs1188602137
|
|
NM_006136.3(CAPZA2):c.766A>G (p.Lys256Glu)
|
rs1791701214
|
|
NM_006136.3(CAPZA2):c.776G>T (p.Arg259Leu)
|
rs1791701248
|
|
NM_006201.5(CDK16):c.-6-416C>T
|
rs1937418084
|
|
NM_006236.3(POU3F3):c.1240G>T (p.Glu414Ter)
|
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys)
|
rs1762178779
|
|
NM_006279.5(ST3GAL3):c.557+5G>A
|
rs2077864900
|
|
NM_006279.5(ST3GAL3):c.595G>A (p.Val199Met)
|
rs2077936349
|
|
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
|
rs2075652085
|
|
NM_006372.5(SYNCRIP):c.1561G>A (p.Ala521Thr)
|
rs1805619034
|
|
NM_006420.3(ARFGEF2):c.3274C>A (p.Arg1092Ser)
|
rs144190029
|
|
NM_006493.4(CLN5):c.587C>T (p.Ala196Val)
|
rs2034339472
|
|
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu)
|
rs1570600997
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.286del (p.Met96fs)
|
rs1643481930
|
|
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
|
rs1643480923
|
|
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
|
rs773339124
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006516.4(SLC2A1):c.859A>C (p.Ile287Leu)
|
rs1431778557
|
|
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro)
|
rs122455132
|
|
NM_006521.6(TFE3):c.566A>G (p.Tyr189Cys)
|
rs2064742830
|
|
NM_006565.4(CTCF):c.1057T>G (p.Cys353Gly)
|
rs2052138115
|
|
NM_006565.4(CTCF):c.136G>A (p.Asp46Asn)
|
rs2052054114
|
|
NM_006565.4(CTCF):c.280C>T (p.Gln94Ter)
|
rs2052056277
|
|
NM_006593.4(TBR1):c.1145T>C (p.Ile382Thr)
|
rs1684206632
|
|
NM_006593.4(TBR1):c.1369_1371delinsCA (p.Thr457fs)
|
rs1553511175
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006593.4(TBR1):c.1621G>A (p.Asp541Asn)
|
|
|
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)
|
rs1553511226
|
|
NM_006593.4(TBR1):c.173G>T (p.Gly58Val)
|
rs1684126194
|
|
NM_006593.4(TBR1):c.713_719del (p.Ser238fs)
|
rs1553510280
|
|
NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs)
|
rs1597846084
|
|
NM_006618.5(KDM5B):c.1424T>C (p.Ile475Thr)
|
rs1385915746
|
|
NM_006662.3(SRCAP):c.5285C>A (p.Pro1762Gln)
|
rs755651719
|
|
NM_006734.4(HIVEP2):c.4036G>T (p.Gly1346Ter)
|
rs1775510548
|
|
NM_006734.4(HIVEP2):c.6617_6618del (p.Pro2206fs)
|
rs1774993424
|
|
NM_006766.5(KAT6A):c.1569C>A (p.Tyr523Ter)
|
rs1822870462
|
|
NM_006766.5(KAT6A):c.1662G>T (p.Gln554His)
|
rs1822554678
|
|
NM_006766.5(KAT6A):c.1786_1787del (p.Leu596fs)
|
rs1822472679
|
|
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)
|
rs886042000
|
|
NM_006766.5(KAT6A):c.3703G>T (p.Glu1235Ter)
|
rs1821749145
|
|
NM_006766.5(KAT6A):c.4069C>T (p.Gln1357Ter)
|
rs1821721453
|
|
NM_006766.5(KAT6A):c.5027A>C (p.Gln1676Pro)
|
rs1169193672
|
|
NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr)
|
rs766320012
|
|
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser)
|
rs1760905358
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006772.3(SYNGAP1):c.1760G>C (p.Arg587Thr)
|
rs1761010851
|
|
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs)
|
rs1761049027
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
|
rs1554122249
|
|
NM_006772.3(SYNGAP1):c.3233_3255del (p.Val1078fs)
|
rs2151190588
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs)
|
rs2151202533
|
|
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)
|
rs1554121202
|
|
NM_006852.6(TLK2):c.163A>G (p.Lys55Glu)
|
rs774263147
|
|
NM_006885.4(ZFHX3):c.3663G>C (p.Gln1221His)
|
|
|
NM_006922.4(SCN3A):c.997G>T (p.Asp333Tyr)
|
rs1689455424
|
|
NM_006940.4:c.1489-7709_1771+1399del
|
|
|
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)
|
rs773832380
|
|
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)
|
rs1135401816
|
|
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter)
|
rs1420871345
|
|
NM_006940.6(SOX5):c.928T>A (p.Cys310Ser)
|
rs1593089328
|
|
NM_006950.3(SYN1):c.1184T>C (p.Ile395Thr)
|
rs2057773960
|
|
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)
|
rs2057891984
|
|
NM_007118.4(TRIO):c.1871C>T (p.Ala624Val)
|
rs962795710
|
|
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)
|
rs1554062562
|
|
NM_007118.4(TRIO):c.2875-10C>G
|
rs1744811214
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007118.4(TRIO):c.3908C>T (p.Thr1303Ile)
|
rs1746764895
|
|
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu)
|
rs1747667518
|
|
NM_007118.4(TRIO):c.5056C>G (p.Leu1686Val)
|
rs749494831
|
|
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)
|
rs752676391
|
|
NM_007118.4(TRIO):c.6877GGC[8] (p.Gly2297_Gly2298dup)
|
rs749785358
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007325.5(GRIA3):c.1474G>A (p.Gly492Ser)
|
rs2045463858
|
|
NM_007325.5(GRIA3):c.1888G>A (p.Gly630Arg)
|
rs587777361
|
|
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)
|
rs780680047
|
|
NM_007325.5(GRIA3):c.2575C>T (p.Leu859Phe)
|
rs2045919094
|
|
NM_007327.4(GRIN1):c.1670C>G (p.Pro557Arg)
|
rs878853143
|
|
NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser)
|
rs1833598160
|
|
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)
|
rs1833614590
|
|
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)
|
rs1833635820
|
|
NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)
|
|
|
NM_007327.4(GRIN1):c.2329del (p.Leu777fs)
|
rs1833664394
|
|
NM_007327.4(GRIN1):c.2443+10_2443+12del
|
rs1833691374
|
|
NM_007327.4(GRIN1):c.2444-2A>G
|
rs1833698471
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_007327.4(GRIN1):c.368C>A (p.Thr123Asn)
|
|
|
NM_007327.4(GRIN1):c.398T>G (p.Ile133Ser)
|
rs2131216957
|
|
NM_007373.4(SHOC2):c.982T>C (p.Ser328Pro)
|
rs1848436487
|
|
NM_012156.2(EPB41L1):c.1600C>T (p.Arg534Trp)
|
rs375772370
|
|
NM_012156.2(EPB41L1):c.2269_2271del
|
rs2063600623
|
|
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)
|
rs2148715376
|
|
NM_012199.5(AGO1):c.2252A>T (p.His751Leu)
|
rs2148725560
|
|
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)
|
rs2148726029
|
|
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)
|
rs1645264815
|
|
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)
|
rs2148711374
|
|
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)
|
rs2148711383
|
|
NM_012199.5(AGO1):c.650-2A>G
|
rs1645271555
|
|
NM_012199.5(AGO1):c.758G>A (p.Arg253His)
|
rs1645273962
|
|
NM_012199.5(AGO1):c.760G>A (p.Val254Ile)
|
rs1645274152
|
|
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs)
|
rs1907323150
|
|
NM_012280.4(FTSJ1):c.362-2A>T
|
rs2061565957
|
|
NM_012280.4(FTSJ1):c.469-33_469-14del
|
rs2061567793
|
|
NM_012309.5(SHANK2):c.2439+1G>A
|
rs2058899044
|
|
NM_012309.5(SHANK2):c.2533C>T (p.Arg845Ter)
|
rs2058867660
|
|
NM_012330.4(KAT6B):c.1787G>A (p.Arg596Gln)
|
rs770204556
|
|
NM_012330.4(KAT6B):c.2949C>A (p.Asp983Glu)
|
|
|
NM_012330.4(KAT6B):c.2958G>C (p.Arg986Ser)
|
rs1845383324
|
|
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=)
|
rs886041207
|
|
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del)
|
rs201769534
|
|
NM_012330.4(KAT6B):c.3273_3275del (p.Glu1104del)
|
rs1564626392
|
|
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)
|
rs755451488
|
|
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter)
|
rs1554843977
|
|
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys)
|
rs761295315
|
|
NM_012330.4(KAT6B):c.466dup (p.Ala156fs)
|
rs1841873265
|
|
NM_012330.4(KAT6B):c.5831_5832del (p.Tyr1944fs)
|
rs1846247159
|
|
NM_012471.3(TRPC5):c.523C>T (p.Arg175Cys)
|
rs1925852905
|
|
NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter)
|
rs1411134954
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs)
|
rs2034490973
|
|
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs)
|
rs2034487965
|
|
NM_013275.6(ANKRD11):c.2904del (p.Glu969fs)
|
rs2034440990
|
|
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)
|
rs1064793539
|
|
NM_013275.6(ANKRD11):c.3932G>A (p.Arg1311Gln)
|
rs534628110
|
|
NM_013275.6(ANKRD11):c.4022C>T (p.Pro1341Leu)
|
rs1456520981
|
|
NM_013275.6(ANKRD11):c.4067del (p.Ser1356fs)
|
rs2034340511
|
|
NM_013275.6(ANKRD11):c.4112C>T (p.Ala1371Val)
|
rs2034337101
|
|
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)
|
rs749632782
|
|
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs)
|
rs886041521
|
|
NM_013275.6(ANKRD11):c.4434C>G (p.Asp1478Glu)
|
rs1239629602
|
|
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs)
|
rs2034289118
|
|
NM_013275.6(ANKRD11):c.5160C>G (p.His1720Gln)
|
rs1035902808
|
|
NM_013275.6(ANKRD11):c.5323G>T (p.Ala1775Ser)
|
rs559618415
|
|
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs)
|
rs2034054366
|
|
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs)
|
rs2151733047
|
|
NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)
|
rs2033996047
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013275.6(ANKRD11):c.7189C>T (p.Gln2397Ter)
|
rs2033955113
|
|
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)
|
rs1131691512
|
|
NM_013275.6(ANKRD11):c.87+4del
|
rs2036995523
|
|
NM_013275.6(ANKRD11):c.998del (p.Asn333fs)
|
rs2034590529
|
|
NM_013436.5(NCKAP1):c.155del (p.Asn52fs)
|
|
|
NM_014008.5(CCDC22):c.403C>T (p.Arg135Trp)
|
rs1557113578
|
|
NM_014141.6(CNTNAP2):c.3679G>A (p.Ala1227Thr)
|
rs761684414
|
|
NM_014141.6(CNTNAP2):c.97+3A>T
|
rs1584757170
|
|
NM_014159.7(SETD2):c.4180G>T (p.Glu1394Ter)
|
rs2107741763
|
|
NM_014225.6(PPP2R1A):c.1747C>A (p.Leu583Met)
|
rs1379445826
|
|
NM_014225.6(PPP2R1A):c.548G>A (p.Arg183Gln)
|
rs1057519947
|
|
NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs)
|
rs1933958646
|
|
NM_014271.4(IL1RAPL1):c.894_903del (p.Trp299fs)
|
rs878853146
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014491.4(FOXP2):c.495A>T (p.Gln165His)
|
rs752789124
|
|
NM_014516.4(CNOT3):c.1200_1220del (p.Gly401_Gly407del)
|
rs746808824
|
|
NM_014712.3(SETD1A):c.2330_2337del (p.Ala777fs)
|
rs2056144779
|
|
NM_014727.2(KMT2B):c.3059dup
|
rs11373774
|
|
NM_014727.3(KMT2B):c.155G>A (p.Gly52Asp)
|
rs1969028425
|
|
NM_014727.3(KMT2B):c.763C>T (p.Pro255Ser)
|
rs1969123578
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)
|
rs886041989
|
|
NM_014927.5(CNKSR2):c.128A>G (p.Gln43Arg)
|
|
|
NM_014927.5(CNKSR2):c.1977-1G>A
|
rs2092480152
|
|
NM_014927.5(CNKSR2):c.228+1G>A
|
|
|
NM_014927.5(CNKSR2):c.958-1G>A
|
rs2091840428
|
|
NM_014975.3(MAST1):c.1029A>T (p.Glu343Asp)
|
rs1969972459
|
|
NM_014991.6(WDFY3):c.5402G>A (p.Cys1801Tyr)
|
rs1741574781
|
|
NM_015021.3(ZNF292):c.1787_1790del (p.Ser596fs)
|
rs1775154516
|
|
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)
|
rs865909396
|
|
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs)
|
rs1775236367
|
|
NM_015021.3(ZNF292):c.3066_3069del (p.Glu1022fs)
|
rs1135401779
|
|
NM_015021.3(ZNF292):c.6145dup (p.Ser2049fs)
|
rs764995318
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015021.3(ZNF292):c.6661_6664del (p.Leu2221fs)
|
rs1775494843
|
|
NM_015021.3(ZNF292):c.7304_7308del (p.Val2435fs)
|
rs1775548411
|
|
NM_015080.4(NRXN2):c.453C>A (p.Phe151Leu)
|
rs2057122061
|
|
NM_015080.4(NRXN2):c.4845dup (p.Gly1616fs)
|
rs2039811849
|
|
NM_015080.4(NRXN2):c.751C>T (p.Pro251Ser)
|
rs2054009025
|
|
NM_015100.4(POGZ):c.1079-20A>G
|
rs1657541606
|
|
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs)
|
rs1654056152
|
|
NM_015100.4(POGZ):c.2310C>G (p.Tyr770Ter)
|
rs142133690
|
|
NM_015100.4(POGZ):c.2345del (p.Cys782fs)
|
rs1654011638
|
|
NM_015100.4(POGZ):c.2400dup (p.Lys801fs)
|
rs1653809027
|
|
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs)
|
rs1653807656
|
|
NM_015100.4(POGZ):c.2469del (p.Thr824fs)
|
rs1653766307
|
|
NM_015100.4(POGZ):c.2574del (p.His858fs)
|
rs1653647344
|
|
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)
|
rs796052217
|
|
NM_015107.3(PHF8):c.1141+5G>C
|
rs878853148
|
|
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter)
|
rs779530889
|
|
NM_015215.4(CAMTA1):c.1414G>A (p.Gly472Ser)
|
rs1377787788
|
|
NM_015215.4(CAMTA1):c.439-4C>G
|
rs918660621
|
|
NM_015215.4(CAMTA1):c.4631G>A (p.Arg1544Gln)
|
rs756980317
|
|
NM_015215.4(CAMTA1):c.4884-8T>G
|
rs753927796
|
|
NM_015215.4(CAMTA1):c.511-1G>A
|
rs2095751954
|
|
NM_015261.3(NCAPD3):c.3510AGA[1] (p.Glu1171del)
|
rs757369291
|
|
NM_015267.4(CUX2):c.1214C>A (p.Thr405Lys)
|
rs375886505
|
|
NM_015267.4(CUX2):c.2758G>A (p.Gly920Arg)
|
rs1439998059
|
|
NM_015335.5(MED13L):c.1009+5G>C
|
rs1879910076
|
|
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs)
|
rs869025286
|
|
NM_015335.5(MED13L):c.173T>A (p.Leu58Ter)
|
rs1870211191
|
|
NM_015335.5(MED13L):c.2340_2343del (p.Thr781fs)
|
rs1879042937
|
|
NM_015335.5(MED13L):c.2345-3C>G
|
rs1592939069
|
|
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
|
rs1057524103
|
|
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter)
|
rs1870202051
|
|
NM_015335.5(MED13L):c.3133C>T (p.Arg1045Cys)
|
rs1565997620
|
|
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
|
rs2137307992
|
|
NM_015335.5(MED13L):c.392_395del (p.Glu131fs)
|
rs1874072493
|
|
NM_015335.5(MED13L):c.395+1G>A
|
rs1874072309
|
|
NM_015335.5(MED13L):c.4123G>T (p.Glu1375Ter)
|
rs1877697992
|
|
NM_015335.5(MED13L):c.442C>T (p.Arg148Ter)
|
rs1872666696
|
|
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter)
|
rs886041448
|
|
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs)
|
rs869025287
|
|
NM_015370.2(C22orf31):c.127G>T (p.Ala43Ser)
|
rs2037381966
|
|
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)
|
rs1427624649
|
|
NM_015443.4(KANSL1):c.1353G>A (p.Trp451Ter)
|
rs2041984041
|
|
NM_015443.4(KANSL1):c.774_775insT (p.Gly259fs)
|
rs2046278091
|
|
NM_015443.4(KANSL1):c.979A>T (p.Lys327Ter)
|
rs2046265286
|
|
NM_015559.3(SETBP1):c.1198G>A (p.Val400Ile)
|
|
|
NM_015559.3(SETBP1):c.1931G>A (p.Ser644Asn)
|
rs2071343664
|
|
NM_015559.3(SETBP1):c.2406_2407delinsT (p.Leu802fs)
|
rs2071357855
|
|
NM_015559.3(SETBP1):c.2516del (p.Pro839fs)
|
rs2071360713
|
|
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
|
|
|
NM_015559.3(SETBP1):c.4675G>A (p.Ala1559Thr)
|
rs2073926608
|
|
NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter)
|
rs2071295138
|
|
NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs)
|
rs1789811451
|
|
NM_015570.4(AUTS2):c.1482dup (p.Arg495fs)
|
rs1789924859
|
|
NM_015570.4(AUTS2):c.1483C>T (p.Arg495Ter)
|
rs1057517708
|
|
NM_015570.4(AUTS2):c.754G>C (p.Gly252Arg)
|
rs145046813
|
|
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg)
|
rs1933665377
|
|
NM_015975.5(TAF9B):c.133C>A (p.Arg45Ser)
|
rs1603400129
|
|
NM_015981.4(CAMK2A):c.1237+1G>A
|
rs113331868
|
|
NM_015981.4(CAMK2A):c.1238-4C>A
|
rs768958439
|
|
NM_015981.4(CAMK2A):c.293T>C (p.Phe98Ser)
|
rs1554122526
|
|
NM_015981.4(CAMK2A):c.327G>C (p.Glu109Asp)
|
rs1287121256
|
|
NM_015981.4(CAMK2A):c.548A>T (p.Glu183Val)
|
rs1554122129
|
|
NM_015981.4(CAMK2A):c.598+2dup
|
rs1554122123
|
|
NM_015981.4(CAMK2A):c.635C>T (p.Pro212Leu)
|
rs926027867
|
|
NM_015981.4(CAMK2A):c.704C>T (p.Pro235Leu)
|
rs864309606
|
|
NM_015981.4(CAMK2A):c.845A>G (p.His282Arg)
|
rs1554121875
|
|
NM_015981.4(CAMK2A):c.856A>C (p.Thr286Pro)
|
rs1554121872
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
NM_016032.4(ZDHHC9):c.881+1G>C
|
rs1927636898
|
|
NM_016107.5(ZFR):c.2667C>G (p.Asp889Glu)
|
rs1752903595
|
|
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)
|
|
|
NM_016148.5(SHANK1):c.2137C>T (p.Arg713Ter)
|
rs138273094
|
|
NM_016148.5(SHANK1):c.5690G>T (p.Gly1897Val)
|
rs1985505411
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)
|
rs538804415
|
|
NM_016219.5(MAN1B1):c.939G>A (p.Trp313Ter)
|
rs1830793247
|
|
NM_016284.5(CNOT1):c.2318C>G (p.Ser773Ter)
|
rs2151940462
|
|
NM_016355.4(DDX47):c.1129C>A (p.Arg377Ser)
|
rs201803737
|
|
NM_016648.4(LARP7):c.1669-1_1671del
|
rs778909076
|
|
NM_016729.3(FOLR1):c.493+7G>T
|
rs1948222554
|
|
NM_017635.5(KMT5B):c.2393dup (p.Asn798fs)
|
rs2153039995
|
|
NM_017635.5(KMT5B):c.609C>A (p.Tyr203Ter)
|
rs2153054646
|
|
NM_017668.3(NDE1):c.182A>G (p.Asn61Ser)
|
rs1274498488
|
|
NM_017721.5(CC2D1A):c.2454+12dup
|
rs3217680
|
|
NM_017721.5(CC2D1A):c.748+1G>T
|
rs876657679
|
|
NM_017755.6(NSUN2):c.1950G>C (p.Lys650Asn)
|
rs760188590
|
|
NM_017755.6(NSUN2):c.563G>A (p.Gly188Asp)
|
rs1737470346
|
|
NM_017755.6(NSUN2):c.608A>C (p.Asn203Thr)
|
rs1737468359
|
|
NM_017780.4(CHD7):c.560A>C (p.Gln187Pro)
|
rs1809054864
|
|
NM_017780.4(CHD7):c.8800A>G (p.Ser2934Gly)
|
rs1024326558
|
|
NM_017780.4(CHD7):c.891G>C (p.Gln297His)
|
rs1809080744
|
|
NM_017822.4(KANSL2):c.1142A>T (p.Asp381Val)
|
rs1939466268
|
|
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)
|
rs768324201
|
|
NM_018026.4(PACS1):c.1341C>A (p.Asn447Lys)
|
rs1855492092
|
|
NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln)
|
rs1855762487
|
|
NM_018026.4(PACS1):c.416A>C (p.Asn139Thr)
|
rs1854579571
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018026.4(PACS1):c.755C>T (p.Ser252Phe)
|
|
|
NM_018136.5(ASPM):c.1402_1406del (p.Asn468fs)
|
rs1245021867
|
|
NM_018136.5(ASPM):c.170T>C (p.Leu57Pro)
|
rs1365215724
|
|
NM_018136.5(ASPM):c.3599-7A>G
|
rs886045777
|
|
NM_018136.5(ASPM):c.7667C>T (p.Ala2556Val)
|
rs1411046226
|
|
NM_018136.5(ASPM):c.9314A>G (p.Lys3105Arg)
|
rs1656801765
|
|
NM_018136.5(ASPM):c.9446G>T (p.Arg3149Ile)
|
rs1656767645
|
|
NM_018136.5(ASPM):c.9685del (p.Ile3229fs)
|
rs199422192
|
|
NM_018249.6(CDK5RAP2):c.145G>A (p.Glu49Lys)
|
rs2042722680
|
|
NM_018249.6(CDK5RAP2):c.5308-4G>C
|
rs2032949484
|
|
NM_018249.6(CDK5RAP2):c.5345G>A (p.Ser1782Asn)
|
rs1262643836
|
|
NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter)
|
rs1846799593
|
|
NM_018486.3(HDAC8):c.352_358del (p.Ala118fs)
|
rs2051864063
|
|
NM_018486.3(HDAC8):c.463C>T (p.Leu155Phe)
|
rs2048985556
|
|
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
|
|
|
NM_018486.3(HDAC8):c.562G>A (p.Ala188Thr)
|
rs1603069440
|
|
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp)
|
rs1603060007
|
|
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
|
rs398122909
|
|
NM_018489.3(ASH1L):c.176A>G (p.Glu59Gly)
|
rs1204718205
|
|
NM_018489.3(ASH1L):c.3241G>A (p.Ala1081Thr)
|
rs1665814715
|
|
NM_018489.3(ASH1L):c.4078A>G (p.Met1360Val)
|
rs1419733198
|
|
NM_018489.3(ASH1L):c.4715A>G (p.Gln1572Arg)
|
rs1665699693
|
|
NM_018489.3(ASH1L):c.6795+3A>G
|
rs535467658
|
|
NM_018489.3(ASH1L):c.7408C>T (p.Pro2470Ser)
|
rs2148343408
|
|
NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)
|
|
|
NM_018896.5(CACNA1G):c.1126A>G (p.Ile376Val)
|
rs944581365
|
|
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter)
|
rs1890387347
|
|
NM_019109.5(ALG1):c.215A>G (p.Lys72Arg)
|
rs768379497
|
|
NM_019109.5(ALG1):c.83G>A (p.Arg28Gln)
|
rs1353988508
|
|
NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser)
|
rs549110435
|
|
NM_020066.5(FMN2):c.2188G>A (p.Glu730Lys)
|
rs1666378082
|
|
NM_020066.5(FMN2):c.4858+8C>A
|
rs1672248858
|
|
NM_020132.5(AGPAT3):c.747C>A (p.Tyr249Ter)
|
|
|
NM_020336.4(RALGAPB):c.4142+1G>A
|
|
|
NM_020338.4(ZMIZ1):c.2177A>G (p.Asn726Ser)
|
rs752281415
|
|
NM_020338.4(ZMIZ1):c.314G>A (p.Arg105His)
|
rs1414360518
|
|
NM_020338.4(ZMIZ1):c.440C>T (p.Pro147Leu)
|
rs1853346060
|
|
NM_020361.5(CPA6):c.649T>C (p.Tyr217His)
|
rs1811441000
|
|
NM_020435.4(GJC2):c.107del (p.Ile36fs)
|
rs1571907430
|
|
NM_020435.4(GJC2):c.709T>G (p.Phe237Val)
|
rs2034719630
|
|
NM_020693.4(DSCAML1):c.1714dup (p.Glu572fs)
|
rs2137305357
|
|
NM_020699.4(GATAD2B):c.115dup (p.Ala39fs)
|
rs1674950708
|
|
NM_020699.4(GATAD2B):c.1417C>T (p.Gln473Ter)
|
rs1674353634
|
|
NM_020699.4(GATAD2B):c.1419+1G>A
|
rs1674353589
|
|
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)
|
rs1553188463
|
|
NM_020706.2(SCAF4):c.1068+3A>G
|
|
|
NM_020706.2(SCAF4):c.790del (p.Arg264fs)
|
rs2123557653
|
|
NM_020717.5(SHROOM4):c.2335G>A (p.Glu779Lys)
|
rs1931186403
|
|
NM_020719.3(PRR12):c.931C>T (p.Gln311Ter)
|
|
|
NM_020812.4(DOCK6):c.1644-5del
|
rs1357756494
|
|
NM_020812.4(DOCK6):c.1891C>T (p.His631Tyr)
|
rs1446750648
|
|
NM_020812.4(DOCK6):c.1915C>G (p.His639Asp)
|
rs748140232
|
|
NM_020812.4(DOCK6):c.6086C>G (p.Thr2029Ser)
|
rs1358989533
|
|
NM_020812.4(DOCK6):c.631del (p.Ala211fs)
|
rs761856660
|
|
NM_020987.5(ANK3):c.11894_11935del (p.Thr3965_Thr3978del)
|
rs2082150277
|
|
NM_020987.5(ANK3):c.188A>T (p.Asn63Ile)
|
rs2098133661
|
|
NM_020987.5(ANK3):c.4353T>C (p.Ile1451=)
|
rs774832921
|
|
NM_020987.5(ANK3):c.9963A>T (p.Glu3321Asp)
|
rs2082556385
|
|
NM_021008.4(DEAF1):c.1292dup (p.Thr432fs)
|
rs1859982135
|
|
NM_021008.4(DEAF1):c.658G>A (p.Gly220Ser)
|
rs751569402
|
|
NM_021008.4(DEAF1):c.806A>G (p.Asp269Gly)
|
rs1421361308
|
|
NM_021008.4(DEAF1):c.86C>T (p.Ala29Val)
|
rs1219925185
|
|
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup)
|
rs56064803
|
|
NM_021072.4(HCN1):c.2260C>T (p.Gln754Ter)
|
rs1744762137
|
|
NM_021072.4(HCN1):c.661T>C (p.Trp221Arg)
|
rs1745529939
|
|
NM_021072.4(HCN1):c.851T>C (p.Ile284Thr)
|
rs1741171789
|
|
NM_021120.4(DLG3):c.1375_1378del (p.Val459fs)
|
rs1602880906
|
|
NM_021120.4(DLG3):c.1640G>A (p.Arg547Lys)
|
rs2087371040
|
|
NM_021120.4(DLG3):c.1761dup (p.Glu588Ter)
|
rs2087377266
|
|
NM_021120.4(DLG3):c.952A>G (p.Asn318Asp)
|
rs2086608421
|
|
NM_021224.6(ZNF462):c.3601G>A (p.Gly1201Arg)
|
rs1330178325
|
|
NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter)
|
rs1265340906
|
|
NM_021964.3(ZNF148):c.1630_1631del (p.Leu544fs)
|
rs1579576029
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
NM_022455.5(NSD1):c.4921A>G (p.Ile1641Val)
|
rs747482559
|
|
NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn)
|
rs1558650788
|
|
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)
|
rs1352259738
|
|
NM_022552.5(DNMT3A):c.705del (p.Glu235fs)
|
rs1675087282
|
|
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg)
|
rs760854242
|
|
NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)
|
|
|
NM_022893.4(BCL11A):c.55+1G>T
|
rs1670493597
|
|
NM_022893.4(BCL11A):c.977C>A (p.Thr326Lys)
|
rs1676326365
|
|
NM_024298.5(MBOAT7):c.251del (p.Leu84fs)
|
rs2076453977
|
|
NM_024496.4(IRF2BPL):c.321_332del (p.Gln124_Gln127del)
|
rs1566786923
|
|
NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg)
|
rs587783737
|
|
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)
|
rs1057517933
|
|
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)
|
rs755371824
|
|
NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu)
|
rs1713131684
|
|
NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg)
|
rs1716297832
|
|
NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter)
|
|
|
NM_024757.5(EHMT1):c.1237G>A (p.Glu413Lys)
|
rs1949039443
|
|
NM_024757.5(EHMT1):c.1543_1555del (p.Gln515fs)
|
rs1949924324
|
|
NM_024757.5(EHMT1):c.2649C>A (p.Tyr883Ter)
|
rs1953425077
|
|
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met)
|
rs762121901
|
|
NM_024757.5(EHMT1):c.325G>C (p.Val109Leu)
|
rs199703555
|
|
NM_024757.5(EHMT1):c.3455_3458del (p.Val1152fs)
|
rs1955015534
|
|
NM_024757.5(EHMT1):c.380T>G (p.Leu127Ter)
|
rs1945375812
|
|
NM_024757.5(EHMT1):c.49C>A (p.Gln17Lys)
|
rs1944657576
|
|
NM_025114.4(CEP290):c.181-3T>C
|
rs770415774
|
|
NM_025114.4(CEP290):c.2484-18GTTTT[4]
|
rs745522483
|
|
NM_025114.4(CEP290):c.4777G>A (p.Asp1593Asn)
|
rs1201073418
|
|
NM_025114.4(CEP290):c.6135+1G>A
|
rs2035114607
|
|
NM_030632.3(ASXL3):c.3040-8C>T
|
rs1268795000
|
|
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs)
|
rs2067697776
|
|
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter)
|
rs1555744282
|
|
NM_030632.3(ASXL3):c.4336_4337del (p.Arg1446fs)
|
rs1599573656
|
|
NM_030632.3(ASXL3):c.5257_5267del (p.Leu1753fs)
|
rs2067754658
|
|
NM_030665.4(RAI1):c.1801G>A (p.Ala601Thr)
|
rs1170875285
|
|
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)
|
rs2032172594
|
|
NM_030665.4(RAI1):c.2332_2336del (p.Gly778fs)
|
rs878853142
|
|
NM_030665.4(RAI1):c.3594G>T (p.Arg1198Ser)
|
rs2032257286
|
|
NM_030665.4(RAI1):c.4455_4456del (p.Ala1487fs)
|
rs2032302357
|
|
NM_030665.4(RAI1):c.573delinsTACCCC (p.Gln191fs)
|
rs2032102818
|
|
NM_031206.7(LAS1L):c.13T>A (p.Ser5Thr)
|
rs777611742
|
|
NM_031263.4(HNRNPK):c.1294del (p.Asp432fs)
|
rs1956764279
|
|
NM_031407.7(HUWE1):c.10610C>A (p.Pro3537His)
|
rs1309601872
|
|
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)
|
rs1556912828
|
|
NM_031407.7(HUWE1):c.1781T>C (p.Val594Ala)
|
rs2065846967
|
|
NM_031407.7(HUWE1):c.3845G>A (p.Arg1282Gln)
|
rs2064220205
|
|
NM_031407.7(HUWE1):c.3953A>G (p.Asn1318Ser)
|
rs2064214794
|
|
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn)
|
rs2067907694
|
|
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del)
|
rs2067904283
|
|
NM_031407.7(HUWE1):c.6200C>T (p.Pro2067Leu)
|
rs2062957071
|
|
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile)
|
rs2066881864
|
|
NM_031407.7(HUWE1):c.6751G>A (p.Glu2251Lys)
|
rs2062464352
|
|
NM_031407.7(HUWE1):c.7945A>G (p.Thr2649Ala)
|
rs2062162493
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_031844.3(HNRNPU):c.1016A>C (p.Lys339Thr)
|
rs1680794191
|
|
NM_031844.3(HNRNPU):c.1674dup (p.Ala559fs)
|
rs2102985883
|
|
NM_031844.3(HNRNPU):c.2288dup (p.Gly763_Ser764insTer)
|
rs1680653195
|
|
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs)
|
rs1553283831
|
|
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val)
|
rs778171763
|
|
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)
|
rs2145342438
|
|
NM_032108.4(SEMA6B):c.481C>G (p.Leu161Val)
|
rs1490417837
|
|
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs)
|
rs1722830922
|
|
NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg)
|
rs764279982
|
|
NM_032360.4(ACBD6):c.360dup (p.Leu121fs)
|
rs1412804743
|
|
NM_032436.4(CHAMP1):c.1559_1560del (p.Ser520fs)
|
rs2087233948
|
|
NM_032436.4(CHAMP1):c.1858A>T (p.Lys620Ter)
|
rs2087240702
|
|
NM_032531.4(KIRREL3):c.1952C>T (p.Thr651Ile)
|
rs1954881235
|
|
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg)
|
rs2073064247
|
|
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys)
|
rs2124181878
|
|
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter)
|
rs2073068605
|
|
NM_032539.5(SLITRK2):c.1665G>C (p.Glu555Asp)
|
rs782671051
|
|
NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser)
|
rs2124152159
|
|
NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys)
|
rs2124163845
|
|
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter)
|
rs1599560256
|
|
NM_033028.5(BBS4):c.221-1047_405+2899del
|
|
|
NM_033071.3(SYNE1):c.[1985A>G;9283G>A]
|
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_052867.4(NALCN):c.2615A>C (p.Asn872Thr)
|
rs777974606
|
|
NM_052867.4(NALCN):c.4194_4197del (p.Cys1398fs)
|
rs2139465605
|
|
NM_054027.6(ANKH):c.922C>G (p.Pro308Ala)
|
rs1057521543
|
|
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)
|
rs1555906768
|
|
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs)
|
rs1555906781
|
|
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter)
|
rs1555907620
|
|
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs)
|
rs1555907623
|
|
NM_078629.4(MSL3):c.1381+1G>T
|
rs1555907626
|
|
NM_078629.4(MSL3):c.1436dup (p.Leu480fs)
|
rs1555907653
|
|
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs)
|
rs1555907864
|
|
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro)
|
rs1555906707
|
|
NM_080425.4(GNAS):c.754_761del (p.Ser252fs)
|
rs2086303843
|
|
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)
|
rs2056119926
|
|
NM_080632.3(UPF3B):c.672A>C (p.Glu224Asp)
|
rs2056158006
|
|
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys)
|
rs1259912377
|
|
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp)
|
rs2074492359
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_130839.5(UBE3A):c.62+2dup
|
rs2088279281
|
|
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter)
|
rs997044541
|
|
NM_130839.5(UBE3A):c.983_987del (p.Tyr328fs)
|
rs1595808957
|
|
NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile)
|
rs763783306
|
|
NM_133433.4(NIPBL):c.6470A>G (p.Asp2157Gly)
|
rs1752883292
|
|
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val)
|
rs1368217611
|
|
NM_133433.4(NIPBL):c.658G>C (p.Asp220His)
|
rs1742783108
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
|
rs587784044
|
|
NM_133433.4(NIPBL):c.841C>G (p.Pro281Ala)
|
rs1742903184
|
|
NM_134261.3(RORA):c.1365C>A (p.His455Gln)
|
rs199865260
|
|
NM_138369.3(BOD1):c.514C>G (p.Pro172Ala)
|
rs1755284095
|
|
NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys)
|
rs782145941
|
|
NM_138927.4(SON):c.3334del (p.Arg1112fs)
|
rs2145828175
|
|
NM_138927.4(SON):c.4779_4780del (p.Ser1594fs)
|
rs2085890366
|
|
NM_138927.4(SON):c.6869A>C (p.Gln2290Pro)
|
rs2086229315
|
|
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)
|
rs2048683301
|
|
NM_139058.3(ARX):c.1446_1448+1dup
|
rs1601946481
|
|
NM_139058.3(ARX):c.549GCC[5] (p.Pro187dup)
|
rs1308129416
|
|
NM_139058.3(ARX):c.611G>T (p.Arg204Leu)
|
rs755745002
|
|
NM_145886.4(PIDD1):c.2587C>T (p.Gln863Ter)
|
rs1224174574
|
|
NM_152331.4(ACOT4):c.566C>A (p.Ala189Asp)
|
rs77261428
|
|
NM_152331.4(ACOT4):c.567T>A (p.Ala189=)
|
rs74553611
|
|
NM_152331.4(ACOT4):c.569A>G (p.Tyr190Cys)
|
rs77814755
|
|
NM_152419.3(HGSNAT):c.1258C>T (p.Leu420Phe)
|
rs755565282
|
|
NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp)
|
rs1822581744
|
|
NM_152641.4(ARID2):c.2233C>G (p.Gln745Glu)
|
rs1305500165
|
|
NM_152703.5(SAMD9L):c.2722A>G (p.Ile908Val)
|
rs1792226793
|
|
NM_152743.4(BRAT1):c.166G>A (p.Val56Met)
|
rs148548421
|
|
NM_153033.5(KCTD7):c.775G>A (p.Val259Met)
|
rs1786654122
|
|
NM_153033.5(KCTD7):c.845A>G (p.Tyr282Cys)
|
rs1264632322
|
|
NM_153252.5(BRWD3):c.3791del (p.Ser1264fs)
|
rs1602308324
|
|
NM_170606.3(KMT2C):c.11008A>G (p.Asn3670Asp)
|
rs2092512174
|
|
NM_170606.3(KMT2C):c.11683A>G (p.Ser3895Gly)
|
rs2092042122
|
|
NM_170606.3(KMT2C):c.2447dup (p.Tyr816Ter)
|
rs150073007
|
|
NM_170606.3(KMT2C):c.2698G>A (p.Gly900Arg)
|
rs1366232611
|
|
NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly)
|
rs1284707010
|
|
NM_170606.3(KMT2C):c.3917A>G (p.Asp1306Gly)
|
rs1249758583
|
|
NM_170606.3(KMT2C):c.560C>G (p.Ser187Ter)
|
rs1563831738
|
|
NM_170606.3(KMT2C):c.6103C>A (p.Pro2035Thr)
|
rs1053658283
|
|
NM_170606.3(KMT2C):c.7070G>T (p.Gly2357Val)
|
rs898494556
|
|
NM_170606.3(KMT2C):c.9801C>G (p.Ile3267Met)
|
rs2092584005
|
|
NM_171825.2(CAMK2A):c.65del
|
rs1554123982
|
|
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.122dup (p.Ile42fs)
|
rs2082237543
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)
|
rs796052626
|
|
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro)
|
rs2081190512
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172362.3(KCNH1):c.245A>G (p.Lys82Arg)
|
rs1558605689
|
|
NM_172362.3(KCNH1):c.2941T>G (p.Ser981Ala)
|
rs1681318890
|
|
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
|
|
|
NM_173495.3(PTCHD1):c.95C>G (p.Pro32Arg)
|
rs1569130365
|
|
NM_177939.3(P4HTM):c.286dup (p.Gln96fs)
|
rs1576601503
|
|
NM_177939.3(P4HTM):c.482A>C (p.His161Pro)
|
rs1576606484
|
|
NM_181303.2(NLGN3):c.163C>G (p.Arg55Gly)
|
rs759137635
|
|
NM_181303.2(NLGN3):c.1849C>T (p.Arg617Trp)
|
rs878853147
|
|
NM_181303.2(NLGN3):c.244A>C (p.Lys82Gln)
|
rs2092377179
|
|
NM_181332.3(NLGN4X):c.1879C>T (p.Arg627Ter)
|
rs1226379186
|
|
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)
|
rs773327091
|
|
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
|
rs1695336858
|
|
NM_182641.4(BPTF):c.3232C>T (p.Arg1078Ter)
|
rs2062624324
|
|
NM_182641.4(BPTF):c.5587C>T (p.Arg1863Ter)
|
rs2063551300
|
|
NM_182641.4(BPTF):c.989del (p.Leu330fs)
|
rs1135401778
|
|
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)
|
rs1562928193
|
|
NM_182931.3(KMT2E):c.705ACA[1] (p.Gln236del)
|
rs1206063396
|
|
NM_182961.4(SYNE1):c.14423C>T (p.Thr4808Met)
|
rs373040273
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
NM_198428.3(BBS9):c.2153del (p.Gly718fs)
|
rs1369313123
|
|
NM_198525.3(KIF7):c.1537G>C (p.Ala513Pro)
|
rs1964038681
|
|
NM_198525.3(KIF7):c.2438T>C (p.Leu813Pro)
|
rs1963741468
|
|
NM_198525.3(KIF7):c.2734AAG[1] (p.Lys913del)
|
rs769890385
|
|
NM_198525.3(KIF7):c.3037_3039del (p.Glu1013del)
|
rs1567058573
|
|
NM_198525.3(KIF7):c.52G>A (p.Val18Ile)
|
rs1420854824
|
|
NM_198880.3(QRICH1):c.1954C>T (p.Arg652Ter)
|
rs1236702036
|
|
NM_198880.3(QRICH1):c.832_833del (p.Ser278fs)
|
rs2093408575
|
|
NM_198880.3(QRICH1):c.914dup (p.Gly306fs)
|
rs2106905056
|
|
NM_198904.4(GABRG2):c.632-1283C>G
|
rs191391831
|
|
NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp)
|
rs543339576
|
|
NM_198904.4(GABRG2):c.926T>C (p.Ile309Thr)
|
rs1765172003
|
|
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)
|
rs796052510
|
|
NM_201253.3(CRB1):c.1750G>T (p.Asp584Tyr)
|
rs1664322968
|
|
NM_203408.4(FAM47A):c.522_523del (p.Glu174fs)
|
rs1922489081
|
|
NM_203447.4(DOCK8):c.1091C>G (p.Pro364Arg)
|
rs781095788
|
|
NM_203447.4(DOCK8):c.1649G>C (p.Arg550Pro)
|
rs886063879
|
|
NM_203447.4(DOCK8):c.1910C>T (p.Ala637Val)
|
rs2053282292
|
|
NM_203447.4(DOCK8):c.4340C>G (p.Ala1447Gly)
|
rs529920844
|
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NM_203447.4(DOCK8):c.4528C>G (p.Gln1510Glu)
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rs762051692
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NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)
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rs797044885
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NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His)
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rs1558149913
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NM_206538.4(EMC10):c.287del (p.Gly96fs)
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rs770255014
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NM_206965.2(FTCD):c.379G>A (p.Gly127Ser)
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rs766010122
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NM_213599.3(ANO5):c.191dup (p.Asn64fs)
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rs137854521
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Single allele
|
|
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der(6)t(6;7)(p25.3;q32.3)
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inv(X)(p22.2q28)
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