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_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_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln)
|
rs145115262
|
0.00595
|
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_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)
|
rs150125249
|
0.00378
|
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_015261.3(NCAPD3):c.125T>C (p.Ile42Thr)
|
rs112183153
|
0.00325
|
NM_001958.5(EEF1A2):c.1030-8G>A
|
rs112283537
|
0.00314
|
NM_015570.4(AUTS2):c.11C>T (p.Pro4Leu)
|
rs200189077
|
0.00301
|
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His)
|
rs34615430
|
0.00292
|
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp)
|
rs61729932
|
0.00249
|
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_203447.4(DOCK8):c.380G>A (p.Arg127His)
|
rs150742426
|
0.00196
|
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_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_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
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_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)
|
rs145726393
|
0.00150
|
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_020812.4(DOCK6):c.133G>A (p.Val45Ile)
|
rs183060698
|
0.00141
|
NM_001278512.2(AP3B2):c.113+7G>A
|
rs756540347
|
0.00138
|
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser)
|
rs199784029
|
0.00138
|
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_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_001378452.1(ITPR1):c.4843-8C>T
|
rs41304179
|
0.00119
|
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_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro)
|
rs147998933
|
0.00101
|
NM_001190274.2(FBXO11):c.232+7C>T
|
rs752461788
|
0.00100
|
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met)
|
rs56132571
|
0.00099
|
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg)
|
rs56035053
|
0.00098
|
NM_001382347.1(MYO5A):c.839-7A>G
|
rs199749277
|
0.00093
|
NM_004229.4(MED14):c.2860T>C (p.Tyr954His)
|
rs149954074
|
0.00091
|
NM_012280.4(FTSJ1):c.*8C>T
|
rs201095751
|
0.00091
|
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu)
|
rs140918583
|
0.00089
|
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_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys)
|
rs140243105
|
0.00081
|
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_021956.5(GRIK2):c.890C>G (p.Ser297Trp)
|
rs61996330
|
0.00070
|
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_001382347.1(MYO5A):c.4432C>T (p.Pro1478Ser)
|
rs147898420
|
0.00058
|
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_015021.3(ZNF292):c.5330C>T (p.Ser1777Phe)
|
rs41273279
|
0.00055
|
NM_000245.4(MET):c.607T>A (p.Ser203Thr)
|
rs200861145
|
0.00053
|
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_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
NM_000245.4(MET):c.959C>T (p.Ala320Val)
|
rs35776110
|
0.00045
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
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_014727.3(KMT2B):c.1157T>C (p.Val386Ala)
|
rs374075740
|
0.00039
|
NM_133443.4(GPT2):c.1198G>C (p.Glu400Gln)
|
rs140225037
|
0.00039
|
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_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp)
|
rs140626076
|
0.00036
|
NM_138422.4(ADAT3):c.1069G>C (p.Glu357Gln)
|
rs200437566
|
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_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_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_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_004774.4(MED1):c.1113G>T (p.Gln371His)
|
rs138920788
|
0.00029
|
NM_016373.4(WWOX):c.1142G>A (p.Arg381His)
|
rs202002431
|
0.00029
|
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr)
|
rs148453804
|
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_014975.3(MAST1):c.1638+7G>A
|
rs200207566
|
0.00025
|
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_001378414.1(HDAC4):c.3058C>T (p.Arg1020Cys)
|
rs201219118
|
0.00023
|
NM_025114.4(CEP290):c.2615C>T (p.Ser872Leu)
|
rs373341530
|
0.00023
|
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_001378414.1(HDAC4):c.1979-8C>T
|
rs201875453
|
0.00020
|
NM_004774.4(MED1):c.429-7C>T
|
rs368821178
|
0.00020
|
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_031206.7(LAS1L):c.1735G>A (p.Val579Ile)
|
rs200862250
|
0.00019
|
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_004525.3(LRP2):c.3266G>A (p.Arg1089His)
|
rs143115109
|
0.00017
|
NM_005908.4(MANBA):c.2416-3C>T
|
rs375466384
|
0.00017
|
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_000052.7(ATP7A):c.3479C>T (p.Ser1160Leu)
|
rs149576827
|
0.00015
|
NM_001123385.2(BCOR):c.3226G>A (p.Glu1076Lys)
|
rs202065982
|
0.00015
|
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)
|
rs190037522
|
0.00015
|
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_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met)
|
rs146087540
|
0.00013
|
NM_001844.5(COL2A1):c.158G>A (p.Arg53Gln)
|
rs370821294
|
0.00013
|
NM_015080.4(NRXN2):c.4985A>G (p.Asn1662Ser)
|
rs149386596
|
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_020812.4(DOCK6):c.4061G>A (p.Arg1354Gln)
|
rs372715066
|
0.00012
|
NM_001100913.3(PACS2):c.1197T>G (p.Asp399Glu)
|
rs199748488
|
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_182961.4(SYNE1):c.14991G>T (p.Arg4997Ser)
|
rs201306174
|
0.00011
|
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu)
|
rs151049890
|
0.00010
|
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)
|
rs141735618
|
0.00010
|
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)
|
rs373320785
|
0.00010
|
NM_012309.5(SHANK2):c.451G>T (p.Asp151Tyr)
|
rs967203648
|
0.00010
|
NM_015215.4(CAMTA1):c.814G>A (p.Gly272Ser)
|
rs201816354
|
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_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_018489.3(ASH1L):c.6995T>A (p.Ile2332Asn)
|
rs201789145
|
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_001386298.1(CIC):c.4748A>G (p.Asn1583Ser)
|
rs773111863
|
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_001271.4(CHD2):c.4984C>T (p.His1662Tyr)
|
rs146275216
|
0.00007
|
NM_001348716.2(KDM6B):c.1199G>A (p.Ser400Asn)
|
rs150106060
|
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_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys)
|
rs374807145
|
0.00007
|
NM_013275.6(ANKRD11):c.3743C>T (p.Ala1248Val)
|
rs752060365
|
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_001374828.1(ARID1B):c.4346G>A (p.Arg1449His)
|
rs370064281
|
0.00006
|
NM_001429.4(EP300):c.4214G>A (p.Arg1405His)
|
rs138855106
|
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_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
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_020361.5(CPA6):c.557A>G (p.Lys186Arg)
|
rs199576384
|
0.00006
|
NM_020812.4(DOCK6):c.5690C>T (p.Thr1897Met)
|
rs371203988
|
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_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser)
|
rs375197568
|
0.00006
|
NM_206965.2(FTCD):c.1540A>G (p.Ile514Val)
|
rs369754449
|
0.00006
|
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_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994
|
0.00005
|
NM_001543.5(NDST1):c.2515G>A (p.Glu839Lys)
|
rs150060318
|
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_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_020987.5(ANK3):c.199A>G (p.Ile67Val)
|
rs753653601
|
0.00005
|
NM_020987.5(ANK3):c.3279T>A (p.Phe1093Leu)
|
rs562083248
|
0.00005
|
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg)
|
rs150361703
|
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_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_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.850C>T (p.Arg284Cys)
|
rs267606133
|
0.00004
|
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala)
|
rs1057519397
|
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_006766.5(KAT6A):c.2710G>A (p.Glu904Lys)
|
rs755856755
|
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_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_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)
|
rs1266642291
|
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_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_003482.4(KMT2D):c.2306A>C (p.His769Pro)
|
rs550637969
|
0.00003
|
NM_004525.3(LRP2):c.2213G>C (p.Gly738Ala)
|
rs762447103
|
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_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_016219.5(MAN1B1):c.1681C>T (p.Arg561Trp)
|
rs772165357
|
0.00003
|
NM_020812.4(DOCK6):c.4671C>A (p.Asn1557Lys)
|
rs1356611309
|
0.00003
|
NM_024596.5(MCPH1):c.1628C>G (p.Thr543Ser)
|
rs763881518
|
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_198525.3(KIF7):c.1515C>G (p.Asp505Glu)
|
rs377280724
|
0.00003
|
NM_206965.2(FTCD):c.172G>A (p.Val58Met)
|
rs749659966
|
0.00003
|
NM_000240.4(MAOA):c.739G>A (p.Val247Ile)
|
rs777420059
|
0.00002
|
NM_000254.3(MTR):c.2852-3T>C
|
rs986257997
|
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_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_001374828.1(ARID1B):c.5680G>A (p.Ala1894Thr)
|
rs768478175
|
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_003482.4(KMT2D):c.6421G>A (p.Gly2141Arg)
|
rs373429610
|
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_004958.4(MTOR):c.3646A>G (p.Ile1216Val)
|
rs760415071
|
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.3938G>A (p.Arg1313Lys)
|
rs200733896
|
0.00002
|
NM_018249.6(CDK5RAP2):c.2284G>A (p.Ala762Thr)
|
rs138553167
|
0.00002
|
NM_138422.4(ADAT3):c.751G>A (p.Gly251Ser)
|
rs752566822
|
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_000052.7(ATP7A):c.3884G>A (p.Arg1295Gln)
|
rs375709681
|
0.00001
|
NM_000159.4(GCDH):c.484C>G (p.Gln162Glu)
|
rs1299348900
|
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_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_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_001079872.2(CUL4B):c.294G>T (p.Gln98His)
|
rs755306871
|
0.00001
|
NM_001099922.3(ALG13):c.1250+7A>G
|
rs1464181502
|
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_001148.6(ANK2):c.10796A>C (p.His3599Pro)
|
rs2096343477
|
0.00001
|
NM_001148.6(ANK2):c.9823G>A (p.Asp3275Asn)
|
rs1334864660
|
0.00001
|
NM_001197104.2(KMT2A):c.1642A>G (p.Thr548Ala)
|
rs1057519412
|
0.00001
|
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His)
|
rs373971175
|
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_001330078.2(NRXN1):c.162G>A (p.Met54Ile)
|
rs1057519409
|
0.00001
|
NM_001349338.3(FOXP1):c.1652+4C>T
|
rs572849158
|
0.00001
|
NM_001358530.2(MOCS1):c.112G>C (p.Ala38Pro)
|
rs532400782
|
0.00001
|
NM_001371928.1(AHDC1):c.1262G>A (p.Gly421Glu)
|
rs1178928609
|
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_001429.4(EP300):c.650A>G (p.Asn217Ser)
|
rs139130083
|
0.00001
|
NM_002241.5(KCNJ10):c.1051G>A (p.Asp351Asn)
|
rs373899425
|
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_003491.4(NAA10):c.583C>T (p.Arg195Cys)
|
rs1057519620
|
0.00001
|
NM_003748.4(ALDH4A1):c.338G>A (p.Arg113Gln)
|
rs371321697
|
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_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.1148C>G (p.Pro383Arg)
|
rs1462415418
|
0.00001
|
NM_004774.4(MED1):c.638C>T (p.Pro213Leu)
|
rs1236352923
|
0.00001
|
NM_004840.3(ARHGEF6):c.1387T>C (p.Cys463Arg)
|
rs757760891
|
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_012156.2(EPB41L1):c.1325T>A (p.Val442Asp)
|
rs1242238241
|
0.00001
|
NM_013275.6(ANKRD11):c.3812C>T (p.Ser1271Leu)
|
rs767520089
|
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_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_015267.4(CUX2):c.2417C>T (p.Ser806Leu)
|
rs1445106287
|
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_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_018941.4(CLN8):c.140C>T (p.Ser47Phe)
|
rs765158624
|
0.00001
|
NM_020066.5(FMN2):c.4591A>T (p.Ser1531Cys)
|
rs781097988
|
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_022455.5(NSD1):c.2029T>C (p.Ser677Pro)
|
rs1265388422
|
0.00001
|
NM_022455.5(NSD1):c.846A>C (p.Pro282=)
|
rs377539686
|
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_054027.6(ANKH):c.1280C>T (p.Thr427Ile)
|
rs200410815
|
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_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
|
NM_000026.4(ADSL):c.1022T>C (p.Leu341Ser)
|
rs770755205
|
|
NM_000027.4(AGA):c.971C>T (p.Thr324Ile)
|
rs1736643790
|
|
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_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.168+6T>C
|
rs2033460975
|
|
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_000277.3(PAH):c.1056del (p.Glu353fs)
|
rs62507350
|
|
NM_000277.3(PAH):c.821A>G (p.Lys274Arg)
|
rs1875223959
|
|
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_000618.5(IGF1):c.447G>C (p.Lys149Asn)
|
rs756533031
|
|
NM_000666.3(ACY1):c.184G>C (p.Val62Leu)
|
rs202206383
|
|
NM_000834.5(GRIN2B):c.3949C>G (p.Leu1317Val)
|
|
|
NM_000834.5(GRIN2B):c.4319C>G (p.Ala1440Gly)
|
rs767037011
|
|
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_001003694.2(BRPF1):c.3355A>G (p.Met1119Val)
|
rs1282057899
|
|
NM_001005273.3(CHD3):c.5090G>A (p.Arg1697Gln)
|
rs61738372
|
|
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_001080.3(ALDH5A1):c.109C>G (p.Pro37Ala)
|
rs1764663348
|
|
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser)
|
rs1408463417
|
|
NM_001100913.3(PACS2):c.1292G>A (p.Arg431Gln)
|
rs2081009644
|
|
NM_001100913.3(PACS2):c.587-4G>C
|
rs782379339
|
|
NM_001110556.2(FLNA):c.6008G>A (p.Arg2003His)
|
rs1182812659
|
|
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.6656_6658dup (p.His2219dup)
|
rs749638821
|
|
NM_001127222.2(CACNA1A):c.6736T>C (p.Ser2246Pro)
|
rs2054680597
|
|
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.5695T>C (p.Cys1899Arg)
|
rs779483775
|
|
NM_001134407.3(GRIN2A):c.1498-6A>G
|
rs1307155809
|
|
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser)
|
rs770966136
|
|
NM_001134831.2(AHI1):c.439G>A (p.Glu147Lys)
|
rs1790713679
|
|
NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val)
|
rs200565814
|
|
NM_001148.6(ANK2):c.10591G>T (p.Asp3531Tyr)
|
rs2096040389
|
|
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del)
|
rs774514148
|
|
NM_001161352.2(KCNMA1):c.2588C>T (p.Pro863Leu)
|
rs150678882
|
|
NM_001170629.2(CHD8):c.161G>T (p.Gly54Val)
|
rs1057519411
|
|
NM_001170629.2(CHD8):c.422C>T (p.Thr141Ile)
|
rs1889549384
|
|
NM_001170629.2(CHD8):c.4762A>T (p.Arg1588Trp)
|
rs1057519410
|
|
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_001182.5(ALDH7A1):c.1507G>A (p.Gly503Ser)
|
rs1749787678
|
|
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup)
|
rs746953076
|
|
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.1828T>A (p.Ser610Thr)
|
rs1949970364
|
|
NM_001197104.2(KMT2A):c.7466A>C (p.Lys2489Thr)
|
rs1950532082
|
|
NM_001197104.2(KMT2A):c.9119C>T (p.Pro3040Leu)
|
rs1565305337
|
|
NM_001242896.3(DEPDC5):c.1291G>A (p.Ala431Thr)
|
rs777844378
|
|
NM_001242896.3(DEPDC5):c.349C>G (p.Leu117Val)
|
rs2082843611
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001271.4(CHD2):c.2332A>C (p.Asn778His)
|
rs985913320
|
|
NM_001271.4(CHD2):c.4278+5T>A
|
rs202174434
|
|
NM_001273.5(CHD4):c.85C>T (p.Pro29Ser)
|
rs1948696599
|
|
NM_001282531.3(ADNP):c.1592T>C (p.Met531Thr)
|
rs943246415
|
|
NM_001282531.3(ADNP):c.886C>T (p.Arg296Trp)
|
rs1449967098
|
|
NM_001291867.2(NHS):c.1008G>C (p.Gln336His)
|
rs2066405948
|
|
NM_001291867.2(NHS):c.230C>G (p.Pro77Arg)
|
rs2064344076
|
|
NM_001303052.2(MYT1L):c.2437G>A (p.Glu813Lys)
|
rs2048541733
|
|
NM_001303052.2(MYT1L):c.459A>T (p.Glu153Asp)
|
rs2056825764
|
|
NM_001308093.3(GATA4):c.142G>A (p.Val48Met)
|
rs773581495
|
|
NM_001317078.4(MED19):c.-2C>T
|
rs200909581
|
|
NM_001321075.3(DLG4):c.1363C>T (p.Arg455Cys)
|
rs1207600580
|
|
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_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_001349338.3(FOXP1):c.1183G>A (p.Ala395Thr)
|
rs376351360
|
|
NM_001349338.3(FOXP1):c.1888G>T (p.Val630Leu)
|
rs772816590
|
|
NM_001353921.2(ARHGEF9):c.1405C>T (p.Arg469Cys)
|
rs1556301404
|
|
NM_001360.3(DHCR7):c.1105C>T (p.Leu369Phe)
|
rs1565584984
|
|
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu)
|
rs2017489032
|
|
NM_001368809.2(AMPD2):c.437A>G (p.Gln146Arg)
|
rs1650680448
|
|
NM_001371596.2(MFSD8):c.736A>T (p.Ser246Cys)
|
rs1739586527
|
|
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.3212C>T (p.Pro1071Leu)
|
rs1207775129
|
|
NM_001371928.1(AHDC1):c.3320A>C (p.Gln1107Pro)
|
rs745613671
|
|
NM_001374828.1(ARID1B):c.1619CGG[3] (p.Ala543del)
|
rs757953295
|
|
NM_001374828.1(ARID1B):c.3089+6C>T
|
rs1203684217
|
|
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.799G>C (p.Asp267His)
|
rs1778855554
|
|
NM_001375380.1(EBF3):c.1038C>T (p.Thr346=)
|
rs142165671
|
|
NM_001375380.1(EBF3):c.1759+8T>G
|
rs1849925996
|
|
NM_001376.5(DYNC1H1):c.5507T>C (p.Phe1836Ser)
|
rs2048192344
|
|
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_001378120.1(MBD5):c.323C>T (p.Ala108Val)
|
rs1707174579
|
|
NM_001378120.1(MBD5):c.998C>A (p.Pro333His)
|
rs1680687635
|
|
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_001382347.1(MYO5A):c.1194T>A (p.Asn398Lys)
|
rs2042532335
|
|
NM_001382347.1(MYO5A):c.2481G>T (p.Met827Ile)
|
rs1252205617
|
|
NM_001386298.1(CIC):c.3122C>G (p.Ser1041Cys)
|
rs2037716622
|
|
NM_001389.5(DSCAM):c.1337C>T (p.Pro446Leu)
|
|
|
NM_001389.5(DSCAM):c.3049A>T (p.Ile1017Phe)
|
rs2090334314
|
|
NM_001389.5(DSCAM):c.5362G>A (p.Val1788Ile)
|
rs748431627
|
|
NM_001429.4(EP300):c.3038A>G (p.Glu1013Gly)
|
|
|
NM_001429.4(EP300):c.5987G>C (p.Ser1996Thr)
|
rs2059210090
|
|
NM_001482.3(GATM):c.256G>T (p.Ala86Ser)
|
rs1889641277
|
|
NM_001543.5(NDST1):c.1438-7T>G
|
rs1302551197
|
|
NM_001543.5(NDST1):c.1749+8dup
|
rs528143978
|
|
NM_001614.5(ACTG1):c.124-4G>C
|
rs782481421
|
|
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)
|
rs1180226091
|
|
NM_001904.4(CTNNB1):c.1408C>T (p.His470Tyr)
|
rs2078364837
|
|
NM_001904.4(CTNNB1):c.23T>C (p.Met8Thr)
|
|
|
NM_002024.6(FMR1):c.479C>T (p.Thr160Ile)
|
rs2043536419
|
|
NM_002025.4(AFF2):c.179A>G (p.Tyr60Cys)
|
rs2054208783
|
|
NM_002641.4(PIGA):c.287T>C (p.Val96Ala)
|
rs866734779
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_003042.4(SLC6A1):c.875T>C (p.Ile292Thr)
|
|
|
NM_003070.5(SMARCA2):c.2184+5T>C
|
|
|
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.15962A>G (p.Tyr5321Cys)
|
rs1942487296
|
|
NM_003482.4(KMT2D):c.538G>T (p.Ala180Ser)
|
rs1938253682
|
|
NM_003482.4(KMT2D):c.5921C>G (p.Thr1974Arg)
|
rs777415982
|
|
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_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_003859.3(DPM1):c.471G>C (p.Trp157Cys)
|
rs1985883778
|
|
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.6624_6635del (p.Gln2213_Gln2216del)
|
rs763108828
|
|
NM_004380.3(CREBBP):c.7002G>C (p.Gln2334His)
|
rs2051794294
|
|
NM_004463.3(FGD1):c.1093T>C (p.Ser365Pro)
|
rs377155391
|
|
NM_004463.3(FGD1):c.17C>A (p.Ala6Asp)
|
rs1161949227
|
|
NM_004519.4(KCNQ3):c.1973A>G (p.Tyr658Cys)
|
rs1423597114
|
|
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_004722.4(AP4M1):c.32del (p.Lys11fs)
|
rs797045249
|
|
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_004933.3(CDH15):c.2288A>G (p.Tyr763Cys)
|
|
|
NM_004933.3(CDH15):c.2364C>A (p.Tyr788Ter)
|
rs2270416
|
|
NM_004975.4(KCNB1):c.1398G>C (p.Glu466Asp)
|
rs1984236966
|
|
NM_005097.4(LGI1):c.1103A>G (p.Tyr368Cys)
|
rs2059988321
|
|
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
|
|
|
NM_005271.5(GLUD1):c.1198-6T>C
|
rs1415334667
|
|
NM_005378.6(MYCN):c.494C>A (p.Ala165Asp)
|
rs1267366929
|
|
NM_005908.4(MANBA):c.2189C>G (p.Pro730Arg)
|
rs1729558557
|
|
NM_005908.4(MANBA):c.796A>G (p.Ile266Val)
|
rs1424334315
|
|
NM_006015.6(ARID1A):c.5309G>A (p.Gly1770Asp)
|
rs747674955
|
|
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu)
|
rs764060744
|
|
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_006420.3(ARFGEF2):c.3274C>A (p.Arg1092Ser)
|
rs144190029
|
|
NM_006493.4(CLN5):c.587C>T (p.Ala196Val)
|
rs2034339472
|
|
NM_006565.4(CTCF):c.136G>A (p.Asp46Asn)
|
rs2052054114
|
|
NM_006593.4(TBR1):c.1621G>A (p.Asp541Asn)
|
|
|
NM_006766.5(KAT6A):c.1662G>T (p.Gln554His)
|
rs1822554678
|
|
NM_006766.5(KAT6A):c.5027A>C (p.Gln1676Pro)
|
rs1169193672
|
|
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg)
|
rs886037914
|
|
NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr)
|
rs766320012
|
|
NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)
|
|
|
NM_007327.4(GRIN1):c.2443+10_2443+12del
|
rs1833691374
|
|
NM_007327.4(GRIN1):c.368C>A (p.Thr123Asn)
|
|
|
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_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.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del)
|
rs201769534
|
|
NM_012330.4(KAT6B):c.3273_3275del (p.Glu1104del)
|
rs1564626392
|
|
NM_012330.4(KAT6B):c.3544G>A (p.Glu1182Lys)
|
rs1057519623
|
|
NM_012330.4(KAT6B):c.4660G>A (p.Glu1554Lys)
|
rs761295315
|
|
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.4434C>G (p.Asp1478Glu)
|
rs1239629602
|
|
NM_013275.6(ANKRD11):c.5160C>G (p.His1720Gln)
|
rs1035902808
|
|
NM_013275.6(ANKRD11):c.5323G>T (p.Ala1775Ser)
|
rs559618415
|
|
NM_014008.5(CCDC22):c.403C>T (p.Arg135Trp)
|
rs1557113578
|
|
NM_014491.4(FOXP2):c.495A>T (p.Gln165His)
|
rs752789124
|
|
NM_014516.4(CNOT3):c.1200_1220del (p.Gly401_Gly407del)
|
rs746808824
|
|
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_014975.3(MAST1):c.1029A>T (p.Glu343Asp)
|
rs1969972459
|
|
NM_015080.4(NRXN2):c.453C>A (p.Phe151Leu)
|
rs2057122061
|
|
NM_015215.4(CAMTA1):c.1414G>A (p.Gly472Ser)
|
rs1377787788
|
|
NM_015215.4(CAMTA1):c.439-4C>G
|
rs918660621
|
|
NM_015215.4(CAMTA1):c.4884-8T>G
|
rs753927796
|
|
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.3133C>T (p.Arg1045Cys)
|
rs1565997620
|
|
NM_015559.3(SETBP1):c.1198G>A (p.Val400Ile)
|
|
|
NM_015559.3(SETBP1):c.3961C>T (p.Arg1321Cys)
|
|
|
NM_015570.4(AUTS2):c.754G>C (p.Gly252Arg)
|
rs145046813
|
|
NM_015981.4(CAMK2A):c.1238-4C>A
|
rs768958439
|
|
NM_016219.5(MAN1B1):c.120GCC[6] (p.Pro45dup)
|
rs538804415
|
|
NM_016219.5(MAN1B1):c.939G>A (p.Trp313Ter)
|
rs1830793247
|
|
NM_016729.3(FOLR1):c.493+7G>T
|
rs1948222554
|
|
NM_017668.3(NDE1):c.182A>G (p.Asn61Ser)
|
rs1274498488
|
|
NM_017721.5(CC2D1A):c.2454+12dup
|
rs3217680
|
|
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_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_018136.5(ASPM):c.170T>C (p.Leu57Pro)
|
rs1365215724
|
|
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_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_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_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_020361.5(CPA6):c.649T>C (p.Tyr217His)
|
rs1811441000
|
|
NM_020435.4(GJC2):c.709T>G (p.Phe237Val)
|
rs2034719630
|
|
NM_020699.4(GATAD2B):c.1154A>G (p.Asn385Ser)
|
rs1057519401
|
|
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.86C>T (p.Ala29Val)
|
rs1219925185
|
|
NM_021072.4(HCN1):c.192TGGCGGCGG[3] (p.Gly72_Gly74dup)
|
rs56064803
|
|
NM_021072.4(HCN1):c.661T>C (p.Trp221Arg)
|
rs1745529939
|
|
NM_021120.4(DLG3):c.1640G>A (p.Arg547Lys)
|
rs2087371040
|
|
NM_021120.4(DLG3):c.952A>G (p.Asn318Asp)
|
rs2086608421
|
|
NM_022455.5(NSD1):c.4921A>G (p.Ile1641Val)
|
rs747482559
|
|
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.49C>A (p.Gln17Lys)
|
rs1944657576
|
|
NM_025114.4(CEP290):c.181-3T>C
|
rs770415774
|
|
NM_025114.4(CEP290):c.4777G>A (p.Asp1593Asn)
|
rs1201073418
|
|
NM_030632.3(ASXL3):c.3040-8C>T
|
rs1268795000
|
|
NM_031206.7(LAS1L):c.13T>A (p.Ser5Thr)
|
rs777611742
|
|
NM_031407.7(HUWE1):c.1781T>C (p.Val594Ala)
|
rs2065846967
|
|
NM_133433.4(NIPBL):c.658G>C (p.Asp220His)
|
rs1742783108
|
|
NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3])
|
rs587784044
|
|
NM_138425.4(C12orf57):c.263A>G (p.Tyr88Cys)
|
rs782145941
|
|
NM_139058.3(ARX):c.611G>T (p.Arg204Leu)
|
rs755745002
|
|
NM_152419.3(HGSNAT):c.1258C>T (p.Leu420Phe)
|
rs755565282
|
|
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_170606.3(KMT2C):c.11008A>G (p.Asn3670Asp)
|
rs2092512174
|
|
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.6103C>A (p.Pro2035Thr)
|
rs1053658283
|
|
NM_170606.3(KMT2C):c.9801C>G (p.Ile3267Met)
|
rs2092584005
|
|
NM_172362.3(KCNH1):c.245A>G (p.Lys82Arg)
|
rs1558605689
|
|
NM_172362.3(KCNH1):c.2941T>G (p.Ser981Ala)
|
rs1681318890
|
|
NM_181303.2(NLGN3):c.244A>C (p.Lys82Gln)
|
rs2092377179
|
|
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys)
|
rs145899734
|
|
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_198904.4(GABRG2):c.632-1283C>G
|
rs191391831
|
|
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.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_206965.2(FTCD):c.379G>A (p.Gly127Ser)
|
rs766010122
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|