ClinVar Miner

List of variants studied for Intellectual disability

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ClinVar version:
Total variants: 2519
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HGVS dbSNP gnomAD frequency
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
NM_203447.4(DOCK8):c.4528C>G (p.Gln1510Glu) rs762051692
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser) rs797044885
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913
NM_206538.4(EMC10):c.287del (p.Gly96fs) rs770255014
NM_206965.2(FTCD):c.379G>A (p.Gly127Ser) rs766010122
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
Single allele
der(6)t(6;7)(p25.3;q32.3)
inv(X)(p22.2q28)

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