ClinVar Miner

List of variants reported as benign for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4684
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HGVS dbSNP gnomAD frequency
NM_000828.4(GRIA3):c.-2G= rs58044961 1.00000
NM_001220.5(CAMK2B):c.*2+97dup rs138799733 1.00000
NM_001220.5(CAMK2B):c.1176+106dup rs5883896 1.00000
NM_015981.4(CAMK2A):c.158-19A>C rs891938 0.99657
NM_001371928.1(AHDC1):c.2803G>A (p.Ala935Thr) rs4908364 0.99565
NM_031407.7(HUWE1):c.12177T>C (p.Gly4059=) rs426298 0.99420
NM_005121.3(MED13):c.4320C>T (p.Asp1440=) rs671347 0.99338
NM_001368397.1(FRMPD4):c.1197+12C>G rs4469660 0.99321
NM_012310.5(KIF4A):c.27C>T (p.Pro9=) rs1199470 0.99232
NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg) rs3122407 0.99173
NM_020843.4(SCAPER):c.2645+36T>C rs280021 0.99164
NM_001318510.2(ACSL4):c.1697+31G>A rs839408 0.98980
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_015028.4(TNIK):c.2331G>C (p.Ala777=) rs6444960 0.98309
NM_052988.5(CDK10):c.609-29T>C rs460057 0.98149
NM_052988.5(CDK10):c.485+49A>G rs187282 0.98147
NM_001303052.2(MYT1L):c.1104C>A (p.Pro368=) rs1529667 0.97836
NM_015100.4(POGZ):c.*30A>G rs6667714 0.97376
NM_006734.4(HIVEP2):c.4613T>C (p.Leu1538Pro) rs109836 0.97172
NM_001127178.3(PIGG):c.2261+49A>T rs7697650 0.97007
NM_020843.4(SCAPER):c.772+1881G>T rs3102707 0.96845
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_014806.5(RUSC2):c.217A>G (p.Thr73Ala) rs1535422 0.96071
NM_018489.3(ASH1L):c.5311A>G (p.Thr1771Ala) rs4971053 0.95641
NM_002025.4(AFF2):c.3404+7A>G rs5980615 0.95464
NM_007327.4(GRIN1):c.394-22G>A rs10870196 0.95430
NM_007327.4(GRIN1):c.1467+8G>A rs10747050 0.95319
NM_138459.5(NUS1):c.-16T>C rs9767451 0.94753
NM_015275.3(WASHC4):c.2701G>A (p.Val901Ile) rs1663564 0.94695
NM_001282531.3(ADNP):c.*50A>C rs761240 0.94627
NM_001349338.3(FOXP1):c.1889+20C>A rs7638391 0.94569
NM_015981.4(CAMK2A):c.1410T>C (p.Asp470=) rs2241694 0.94205
NM_001172509.2(SATB2):c.1543-4A>C rs10153730 0.93908
NM_018489.3(ASH1L):c.8293+58A>G rs4971051 0.93536
NM_016032.4(ZDHHC9):c.487+15A>G rs2275605 0.92100
NM_005765.3(ATP6AP2):c.534+45G>C rs3112299 0.91713
NM_016219.5(MAN1B1):c.176A>G (p.Asn59Ser) rs968733 0.91637
NM_016302.4(CRBN):c.750+32A>G rs1705789 0.91072
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662 0.90817
NM_022101.4(STEEP1):c.-2T>C rs5910616 0.89242
NM_024989.4(PGAP1):c.649+17G>A rs12693800 0.89159
NM_016302.4(CRBN):c.175-9T>C rs1669321 0.89132
NM_007118.4(TRIO):c.5100A>C (p.Thr1700=) rs30612 0.88742
NM_004859.4(CLTC):c.2293-26T>C rs8065248 0.88365
NM_001127178.3(PIGG):c.571-563A>G rs4690182 0.87699
NM_014026.6(DCPS):c.315G>A (p.Gln105=) rs637462 0.87290
NM_003011.4(SET):c.493-14C>T rs4836618 0.86614
NM_003011.4(SET):c.132-17C>T rs3750330 0.86565
NM_153747.2(PIGC):c.267T>C (p.Gly89=) rs2230471 0.85989
NM_004859.4(CLTC):c.519+16T>G rs8071749 0.85772
NM_006279.5(ST3GAL3):c.1038+15A>G rs3120803 0.84897
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_013275.6(ANKRD11):c.2772C>T (p.Thr924=) rs2279349 0.82790
NM_130797.4(DPP6):c.723A>G (p.Lys241=) rs3807218 0.82535
NM_015100.4(POGZ):c.1779+39C>T rs3748550 0.82270
NM_015100.4(POGZ):c.-6A>G rs12125310 0.82249
NM_001348323.3(TRIP12):c.2651-25C>T rs4972915 0.81767
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_016219.5(MAN1B1):c.2046T>C (p.Asp682=) rs4880091 0.80826
NM_015100.4(POGZ):c.568+34T>C rs6587577 0.80243
NM_007347.5(AP4E1):c.1967-91A>G rs2306335 0.79763
NM_015338.6(ASXL1):c.719-100C>T rs2295765 0.78948
NM_138775.3(ALKBH8):c.720T>C (p.Asp240=) rs645056 0.76333
NM_001080397.3(SLC45A1):c.942A>G (p.Pro314=) rs1058619 0.76044
NM_020987.5(ANK3):c.13066-44C>A rs2393607 0.76024
NM_001015877.2(PHF6):c.139-47G>A rs5978001 0.75584
NM_013275.6(ANKRD11):c.88-87C>T rs2277908 0.75435
NM_013275.6(ANKRD11):c.88-75C>T rs3114912 0.74950
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_001543.5(NDST1):c.1662G>C (p.Thr554=) rs1290147 0.74209
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_021008.4(DEAF1):c.1503+82C>A rs11246258 0.73326
NM_020987.5(ANK3):c.*19+77T>A rs2393604 0.72136
NM_020987.5(ANK3):c.*19+56T>A rs2393605 0.71945
NM_020987.5(ANK3):c.*19+55T>A rs2393606 0.71943
NM_001371928.1(AHDC1):c.2145G>T (p.Pro715=) rs2076457 0.71440
NM_006734.4(HIVEP2):c.6885A>G (p.Pro2295=) rs169098 0.70641
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_017755.6(NSUN2):c.1602-11G>T rs2303707 0.68523
NM_003070.5(SMARCA2):c.4360-79A>G rs2281786 0.68018
NM_013275.6(ANKRD11):c.745-84C>T rs2353028 0.67687
NM_001145358.2(SIN3A):c.3592-21T>A rs7403118 0.67414
NM_001543.5(NDST1):c.1097-28T>C rs2545341 0.67102
NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val) rs2279348 0.66687
NM_006618.5(KDM5B):c.2184C>T (p.Tyr728=) rs1141108 0.66577
NM_006618.5(KDM5B):c.747G>A (p.Thr249=) rs3196669 0.66570
NM_003754.3(EIF3F):c.561C>T (p.His187=) rs4758267 0.66119
NM_080632.3(UPF3B):c.264-34G>A rs2428212 0.66050
NM_032808.7(LINGO1):c.714G>C (p.Leu238=) rs2271396 0.65067
NM_032808.7(LINGO1):c.474A>G (p.Leu158=) rs2271397 0.64965
NM_032808.7(LINGO1):c.465C>T (p.Ile155=) rs2271398 0.64821
NM_022101.4(STEEP1):c.375C>T (p.Gly125=) rs5910611 0.64193
NM_153252.5(BRWD3):c.*6862T>C rs2063579 0.63956
NM_001172509.2(SATB2):c.474-35G>C rs1348813 0.63041
NM_013275.6(ANKRD11):c.7470+72C>T rs3096305 0.62824
NM_016023.5(OTUD6B):c.316-11G>C rs11786324 0.62291
NM_014271.4(IL1RAPL1):c.-19G>A rs6526806 0.61514
NM_006618.5(KDM5B):c.1887C>T (p.His629=) rs1892164 0.60950
NM_024528.4(NKAP):c.923+6C>T rs194302 0.60390
NM_020987.5(ANK3):c.13066-33T>A rs9888033 0.60093
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_006908.5(RAC1):c.107+27C>T rs702483 0.59625
NM_006279.5(ST3GAL3):c.1039-18C>T rs2108202 0.59490
NM_020987.5(ANK3):c.2479-74T>C rs11814723 0.59464
NM_005883.3(APC2):c.413+95T>C rs12985827 0.59265
NM_007325.5(GRIA3):c.751-16T>C rs550640 0.58620
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_006517.5(SLC16A2):c.1399+43T>G rs5937843 0.57946
NM_007325.5(GRIA3):c.1200T>C (p.Asn400=) rs502434 0.57798
NM_001032382.2(PQBP1):c.180-3C>T rs741932 0.57792
NM_001257291.2(SLC9A7):c.1827C>T (p.Tyr609=) rs3208940 0.57691
NM_001958.5(EEF1A2):c.594T>C (p.Gly198=) rs310617 0.57688
NM_001160372.4(TRAPPC9):c.2557-13T>A rs9792174 0.57247
NM_007347.5(AP4E1):c.222+48_222+49insT rs3214932 0.57174
NM_007347.5(AP4E1):c.346+50G>C rs2663553 0.57162
NM_001257291.2(SLC9A7):c.144G>C (p.Ala48=) rs1056846 0.56828
NM_019842.4(KCNQ5):c.123C>G (p.Ser41=) rs3734212 0.56776
NM_006908.5(RAC1):c.225+18C>T rs836478 0.56557
NM_002025.4(AFF2):c.3623+57G>A rs12688573 0.56066
NM_001367534.1(CAMK2G):c.696+102_696+103insA rs3214931 0.55999
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801 0.55959
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802 0.55845
NM_015028.4(TNIK):c.63C>T (p.Pro21=) rs3796295 0.55370
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476 0.54054
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_003619.4(PRSS12):c.164G>C (p.Arg55Thr) rs13119545 0.53595
NM_003619.4(PRSS12):c.1281A>G (p.Gln427=) rs2292597 0.53313
NM_007118.4(TRIO):c.5497-48C>T rs27100 0.52401
NM_138775.3(ALKBH8):c.878+31T>A rs589788 0.52394
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=) rs3734441 0.52321
NM_153252.5(BRWD3):c.1087-23G>C rs4240018 0.51825
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.51303
NM_001429.4(EP300):c.4453-23T>C rs2076577 0.51146
NM_004595.5(SMS):c.170+30C>T rs3747276 0.51062
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln) rs3088074 0.50884
NM_015028.4(TNIK):c.744C>T (p.Asn248=) rs12637875 0.50558
NM_004068.4(AP2M1):c.1173+73T>C rs843365 0.50341
NM_016219.5(MAN1B1):c.*384A>G rs4567 0.49708
NM_006852.6(TLK2):c.1872A>G (p.Pro624=) rs8078132 0.49542
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_001303052.2(MYT1L):c.2858+74A>G rs4381806 0.48985
NM_019023.5(PRMT7):c.1797C>T (p.Thr599=) rs1131933 0.48912
NM_016023.5(OTUD6B):c.141A>G (p.Gln47=) rs11557571 0.48470
NM_021008.4(DEAF1):c.1503+37C>T rs6597996 0.47592
NM_021008.4(DEAF1):c.1503+78C>T rs6597997 0.47539
NM_001367534.1(CAMK2G):c.275+69A>G rs2250140 0.47400
NM_001220.5(CAMK2B):c.1597+38C>T rs10951758 0.47114
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.46405
NM_006950.3(SYN1):c.775-8085A>G rs4898 0.46249
NM_015981.4(CAMK2A):c.1238-44G>A rs2241695 0.46240
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803 0.45974
NM_138775.3(ALKBH8):c.1288-3C>T rs654093 0.45699
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_003070.5(SMARCA2):c.4253+40G>C rs3793511 0.45181
NM_020066.5(FMN2):c.3442A>G (p.Arg1148Gly) rs12732924 0.45161
NM_007118.4(TRIO):c.541-20G>A rs30629 0.44690
NM_153747.2(PIGC):c.796C>T (p.Pro266Ser) rs1063412 0.44041
NM_001367534.1(CAMK2G):c.161-110A>G rs2664282 0.43889
NM_001367534.1(CAMK2G):c.147G>A (p.Lys49=) rs2675671 0.43799
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_032808.7(LINGO1):c.1104C>T (p.Ser368=) rs3743481 0.43645
NM_007118.4(TRIO):c.4398T>C (p.Asp1466=) rs30774 0.42642
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_004933.3(CDH15):c.1971A>G (p.Gln657=) rs3815615 0.42410
NM_005334.3(HCFC1):c.5859C>T (p.Cys1953=) rs3027875 0.42119
NM_000834.5(GRIN2B):c.366C>G (p.Pro122=) rs7301328 0.41972
NM_001543.5(NDST1):c.681T>G (p.Val227=) rs2273235 0.41747
NM_004933.3(CDH15):c.1750A>C (p.Lys584Gln) rs75791347 0.41599
NM_004068.4(AP2M1):c.75-4T>C rs2231216 0.40359
NM_001377265.1(MAPT):c.*1145_*1146insT rs1491446284 0.40313
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40227
NM_031407.7(HUWE1):c.2109A>G (p.Ser703=) rs6638360 0.40138
NM_021008.4(DEAF1):c.518-34G>A rs12277188 0.39540
NM_006950.3(SYN1):c.510T>C (p.Asn170=) rs1142636 0.39391
NM_000834.5(GRIN2B):c.3534C>T (p.His1178=) rs1806191 0.39095
NM_021008.4(DEAF1):c.998-99C>T rs28392994 0.38981
NM_001348323.3(TRIP12):c.2736A>G (p.Thr912=) rs13018957 0.38821
NM_001348323.3(TRIP12):c.2651-39A>C rs4973229 0.38648
NM_020066.5(FMN2):c.1413C>A (p.Ala471=) rs10926124 0.38564
NM_005334.3(HCFC1):c.2841A>G (p.Pro947=) rs730106 0.37791
NM_005334.3(HCFC1):c.3490T>C (p.Ser1164Pro) rs1051152 0.37778
NM_005862.3(STAG1):c.2457C>T (p.Phe819=) rs9860801 0.37660
NM_021008.4(DEAF1):c.290-38C>T rs11246268 0.36853
NM_001348323.3(TRIP12):c.3482+15G>A rs6720868 0.36718
NM_014415.4(ZBTB11):c.1624-4C>T rs11712748 0.36125
NM_001220.5(CAMK2B):c.1956C>T (p.Asn652=) rs1065359 0.35835
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_001081550.2(THOC2):c.3058-9C>T rs2072914 0.35686
NM_015443.4(KANSL1):c.-90+8C>T rs72836333 0.35522
NM_015981.4(CAMK2A):c.1467-4A>G rs55976097 0.35152
NM_020066.5(FMN2):c.2517C>G (p.Thr839=) rs10926166 0.34857
NM_031407.7(HUWE1):c.5716+37T>G rs266786 0.34800
NM_015338.6(ASXL1):c.140+26A>G rs2295454 0.34485
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=) rs4911231 0.34448
NM_003384.3(VRK1):c.217-244T>C rs12586511 0.34167
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_017755.6(NSUN2):c.97-6C>T rs10076470 0.34106
NM_001220.5(CAMK2B):c.820-93A>T rs2075073 0.33981
NM_017755.6(NSUN2):c.51G>A (p.Glu17=) rs10062086 0.33934
NM_001220.5(CAMK2B):c.819+115T>C rs35663812 0.33921
NM_002025.4(AFF2):c.1041+56456A>G rs241084 0.33601
NM_015338.6(ASXL1):c.*22A>G rs2295764 0.33221
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_006279.5(ST3GAL3):c.209+9925A>G rs37458 0.32581
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32239
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_020843.4(SCAPER):c.-42T>A rs3812909 0.32139
NM_020843.4(SCAPER):c.1A>G (p.Met1Val) rs3812908 0.32136
NM_007118.4(TRIO):c.4311+44G>A rs256412 0.31735
NM_020843.4(SCAPER):c.3705+3A>G rs3765115 0.31626
NM_006765.4(TUSC3):c.309-6T>C rs1035972 0.31124
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_015028.4(TNIK):c.1419+19A>G rs6444965 0.29767
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_020717.5(SHROOM4):c.3468A>G (p.Glu1156=) rs3747282 0.29345
NM_020066.5(FMN2):c.4403G>A (p.Arg1468His) rs3795677 0.29272
NM_001003694.2(BRPF1):c.1854+24A>G rs696513 0.29090
NM_001493.3(GDI1):c.219T>C (p.Asn73=) rs4834 0.28474
NM_001321075.3(DLG4):c.1167C>T (p.Ile389=) rs17203281 0.28275
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_001244008.2(KIF1A):c.864+16C>T rs2288750 0.27959
NM_001039591.3(USP9X):c.3558+16T>C rs5918130 0.27842
NM_001160372.4(TRAPPC9):c.1134+21A>G rs3779658 0.27421
NM_001220.5(CAMK2B):c.573T>C (p.Tyr191=) rs11542227 0.27378
NM_020843.4(SCAPER):c.3078+39G>T rs11072597 0.27073
NM_020843.4(SCAPER):c.3265C>A (p.Pro1089Thr) rs1607017 0.26828
NM_001081550.2(THOC2):c.2317-47A>G rs3764750 0.26774
NM_001039891.2(ZNF674):c.*2120A>C rs5952893 0.26563
NM_000834.5(GRIN2B):c.1665C>T (p.Ser555=) rs1805482 0.26553
NM_020699.4(GATAD2B):c.729+15G>A rs4363451 0.26283
NM_153252.5(BRWD3):c.*5481A>C rs12690214 0.26102
NM_020843.4(SCAPER):c.612-4A>G rs11852395 0.26001
NM_016219.5(MAN1B1):c.1765-5C>A rs12115325 0.25976
NM_021008.4(DEAF1):c.997+97T>C rs7483337 0.25944
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_004586.3(RPS6KA3):c.798C>A (p.Leu266=) rs2230488 0.24795
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_138775.3(ALKBH8):c.1030+9A>G rs12574614 0.24106
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_001080397.3(SLC45A1):c.*20C>T rs1055236 0.23806
NM_007327.4(GRIN1):c.789A>G (p.Pro263=) rs6293 0.23665
NM_007327.4(GRIN1):c.855G>A (p.Val285=) rs1126442 0.23587
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201 0.23527
NM_006516.4(SLC2A1):c.-197A>C rs11537640 0.23186
NM_006516.2(SLC2A1):c.-390delA rs28365848 0.23160
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_015028.4(TNIK):c.2316C>T (p.Leu772=) rs2291900 0.22910
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048 0.22639
NM_020066.5(FMN2):c.1830A>G (p.Ser610=) rs3765588 0.22473
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_007118.4(TRIO):c.3033C>T (p.Asn1011=) rs13189406 0.22131
NM_001330574.2(ZNF711):c.-286+5C>T rs41311563 0.22093
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_001330574.2(ZNF711):c.*632A>G rs6653049 0.22070
NM_024921.4(POF1B):c.*1626G>A rs16980188 0.22046
NM_024921.4(POF1B):c.*1431A>C rs16980189 0.22033
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_001330574.2(ZNF711):c.*153A>G rs2343388 0.21897
NM_057175.5(NAA15):c.1753+12del rs3217605 0.21617
NM_006516.4(SLC2A1):c.45C>T (p.Ala15=) rs1385129 0.21537
NM_001958.5(EEF1A2):c.772+31C>A rs12480745 0.21133
NM_024665.7(TBL1XR1):c.766+5A>G rs3749234 0.21092
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_001376.5(DYNC1H1):c.4396-25A>G rs2251644 0.20803
NM_007347.5(AP4E1):c.1066+51T>C rs2291107 0.20641
NM_001376.5(DYNC1H1):c.8344-30G>A rs2180510 0.20452
NM_014026.6(DCPS):c.189C>T (p.Phe63=) rs695029 0.19665
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_005334.3(HCFC1):c.713-13C>T rs59607260 0.19358
NM_005334.3(HCFC1):c.4185G>A (p.Ala1395=) rs2071133 0.19260
NM_001376.5(DYNC1H1):c.1462-41G>A rs2983422 0.19200
NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=) rs1953337 0.19198
NM_001127178.3(PIGG):c.1989C>T (p.Ala663=) rs13150531 0.19173
NM_001127178.3(PIGG):c.1828T>C (p.Cys610Arg) rs7666425 0.19169
NM_001127178.3(PIGG):c.1743T>C (p.Leu581=) rs7666226 0.19160
NM_005334.3(HCFC1):c.1085-22C>G rs17421 0.19150
NM_001127178.3(PIGG):c.2795T>C (p.Phe932Ser) rs1127410 0.19048
NM_017721.5(CC2D1A):c.2402C>T (p.Thr801Met) rs2305777 0.19038
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_001127178.3(PIGG):c.2642T>C (p.Ile881Thr) rs34623004 0.18986
NM_020987.5(ANK3):c.8895T>C (p.Ala2965=) rs10740006 0.18901
NM_013275.6(ANKRD11):c.7713+54G>C rs12709112 0.18870
NM_020987.5(ANK3):c.9368A>G (p.Lys3123Arg) rs10821668 0.18742
NM_004068.4(AP2M1):c.960C>T (p.Ile320=) rs8478 0.18694
NM_006013.5(RPL10):c.-24+3G>A rs915942 0.18464
NM_014806.5(RUSC2):c.3342-10C>T rs2295842 0.17831
NM_007118.4(TRIO):c.5203+20G>A rs56207939 0.17811
NM_001110792.2(MECP2):c.*878C>G rs3027924 0.17278
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17268
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_006516.4(SLC2A1):c.399C>T (p.Cys133=) rs11537641 0.16943
NM_007347.5(AP4E1):c.150+33A>G rs76674534 0.16669
NM_000834.5(GRIN2B):c.4197T>C (p.His1399=) rs1805247 0.16667
NM_002578.5(PAK3):c.431-26A>G rs16986385 0.16664
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_017755.6(NSUN2):c.1749G>A (p.Thr583=) rs13181449 0.16076
NM_005334.3(HCFC1):c.4542G>T (p.Leu1514=) rs3027878 0.16009
NM_005334.3(HCFC1):c.2283C>G (p.Thr761=) rs2071134 0.15977
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_153252.5(BRWD3):c.*3850G>C rs45627037 0.15831
NM_153252.5(BRWD3):c.*5993G>C rs7065450 0.15763
NM_005121.3(MED13):c.470+23G>A rs4968467 0.15578
NM_001127178.3(PIGG):c.2095G>A (p.Val699Ile) rs13114026 0.15552
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.3333+23A>G rs4900529 0.15530
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_004933.3(CDH15):c.1023G>A (p.Ser341=) rs72819366 0.15210
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_002025.4(AFF2):c.1488G>A (p.Ser496=) rs12011040 0.14855
NM_000834.5(GRIN2B):c.1125+20A>G rs11055581 0.14832
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_001377265.1(MAPT):c.*1101A>G rs1052590 0.14499
NM_001377265.1(MAPT):c.*1759T>C rs7687 0.14487
NM_017755.6(NSUN2):c.2193C>T (p.Asp731=) rs3822434 0.14485
NM_001377265.1(MAPT):c.*2806A>C rs2158257 0.14473
NM_001377265.1(MAPT):c.*1067T>C rs1052587 0.14468
NM_001377265.1(MAPT):c.*2972T>C rs17574228 0.14466
NM_001377265.1(MAPT):c.*2079C>T rs17652748 0.14441
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=) rs35833914 0.14434
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=) rs36076725 0.14426
NM_001374828.1(ARID1B):c.4383-7A>G rs112318565 0.14423
NM_006516.2(SLC2A1):c.-490G>C rs3754226 0.14227
NM_001079872.2(CUL4B):c.1174-20G>A rs5957408 0.14035
NM_001127178.3(PIGG):c.1373G>A (p.Arg458His) rs13115344 0.13254
NM_019023.5(PRMT7):c.1638C>T (p.Asp546=) rs61746794 0.13248
NM_019023.5(PRMT7):c.1276-18G>A rs7190134 0.13231
NM_003070.5(SMARCA2):c.-5G>A rs10964468 0.13219
NM_015107.3(PHF8):c.2650-35C>G rs7886772 0.13065
NM_001080397.3(SLC45A1):c.831G>C (p.Leu277=) rs56125713 0.12841
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_015443.4(KANSL1):c.*742G>A rs7350928 0.12614
NM_001377265.1(MAPT):c.*1152G>C rs1052594 0.12578
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) rs13288443 0.12157
NM_003070.5(SMARCA2):c.1347+16_1347+17insT rs150124430 0.12134
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_005765.3(ATP6AP2):c.765T>C (p.Tyr255=) rs7691 0.11555
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_004068.4(AP2M1):c.1185G>A (p.Ala395=) rs2231224 0.11262
NM_017755.6(NSUN2):c.*99G>A rs3776448 0.11157
NM_001371727.1(GABRB2):c.1308C>T (p.Ala436=) rs2229944 0.11079
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=) rs1571294 0.10973
NM_024665.7(TBL1XR1):c.1416+25C>G rs16827730 0.10956
NM_007118.4(TRIO):c.4020C>T (p.Ile1340=) rs7715916 0.10797
NM_007118.4(TRIO):c.3882-36C>G rs11949756 0.10757
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964 0.10663
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825 0.10462
NM_007118.4(TRIO):c.3332-33C>T rs10866507 0.10407
NM_012216.4(MID2):c.180A>C (p.Ser60=) rs2236083 0.10213
NM_017721.5(CC2D1A):c.2716G>A (p.Ala906Thr) rs11669628 0.10133
NM_001282531.3(ADNP):c.2568C>T (p.Val856=) rs1062651 0.10055
NM_015559.3(SETBP1):c.4000+10T>A rs3786177 0.10035
NM_015028.4(TNIK):c.2682C>T (p.Ser894=) rs16855789 0.09929
NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu) rs4785560 0.09807
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_004595.5(SMS):c.866-32T>C rs2071136 0.09321
NM_015100.4(POGZ):c.2235-11T>C rs2025899 0.09308
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=) rs17790938 0.09265
NM_012310.5(KIF4A):c.3073-4C>T rs10482161 0.09171
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204 0.09043
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) rs10964471 0.08917
NM_024921.4(POF1B):c.*1849G>A rs73513629 0.08686
NM_001371727.1(GABRB2):c.542-11T>C rs10052441 0.08647
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_003384.3(VRK1):c.1159+43C>G rs45457797 0.08564
NM_001371928.1(AHDC1):c.1209C>T (p.Arg403=) rs113173951 0.08484
NM_012310.5(KIF4A):c.3372+11G>T rs5980934 0.08227
NM_000834.5(GRIN2B):c.2514C>T (p.Cys838=) rs3026160 0.08178
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
NM_001371928.1(AHDC1):c.465G>A (p.Pro155=) rs112179924 0.08011
NM_005359.6(SMAD4):c.*5535A>G rs75712226 0.07867
NM_024665.7(TBL1XR1):c.926-8C>T rs77478951 0.07381
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.07295
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001111125.3(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864 0.07175
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=) rs41300169 0.06912
NM_006516.4(SLC2A1):c.966C>T (p.Val322=) rs2229680 0.06553
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_015028.4(TNIK):c.2995G>A (p.Ala999Thr) rs17857452 0.06173
NM_019023.5(PRMT7):c.1905C>T (p.Pro635=) rs61733486 0.06161
NM_003072.5(SMARCA4):c.1944-19G>T rs74942410 0.06144
NM_006015.6(ARID1A):c.3199-95A>G rs76490152 0.06005
NM_001110792.2(MECP2):c.*1737G>A rs3027922 0.06002
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05793
NM_006015.6(ARID1A):c.2420-18G>C rs34681611 0.05742
NM_016302.4(CRBN):c.735T>C (p.Tyr245=) rs17027638 0.05605
NM_006015.6(ARID1A):c.1351-22A>C rs41303629 0.05601
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_012310.5(KIF4A):c.987T>C (p.Tyr329=) rs41305391 0.05231
NM_153252.5(BRWD3):c.*2831C>T rs3810676 0.05213
NM_005334.3(HCFC1):c.2886G>A (p.Leu962=) rs3027883 0.05020
NM_153252.5(BRWD3):c.*4223C>T rs184070793 0.05012
NM_020066.5(FMN2):c.3216G>A (p.Ala1072=) rs71646895 0.04951
NM_153252.5(BRWD3):c.*5461T>G rs41306245 0.04912
NM_005334.3(HCFC1):c.1085-12G>A rs3027893 0.04847
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro) rs60520302 0.04744
NM_001244008.2(KIF1A):c.4319-8C>T rs1529663 0.04602
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_024989.4(PGAP1):c.1862-3C>T rs73988069 0.04584
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_153252.5(BRWD3):c.*1372T>A rs41300257 0.04529
NM_005359.6(SMAD4):c.*6423G>C rs2282544 0.04514
NM_004615.4(TSPAN7):c.237T>C (p.Ala79=) rs7049247 0.04476
NM_171998.4(RAB39B):c.*1347C>T rs17052027 0.04193
NM_001110556.2(FLNA):c.374-19G>A rs2070817 0.04163
NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=) rs61741725 0.04130
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04125
NM_000045.4(ARG1):c.270C>T (p.Asn90=) rs34504481 0.04124
NM_001429.4(EP300):c.95-16T>C rs5758235 0.04095
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001429.4(EP300):c.1168+18G>A rs3818120 0.04073
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_001110792.2(MECP2):c.414-109A>G rs3850326 0.04029
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) rs62534884 0.03925
NM_024665.7(TBL1XR1):c.59-13C>G rs78281312 0.03907
NM_013275.6(ANKRD11):c.893-92C>T rs72803305 0.03881
NM_003072.5(SMARCA4):c.356-14A>G rs111447132 0.03865
NM_019597.5(HNRNPH2):c.1320C>T (p.Asn440=) rs3027574 0.03836
NM_017755.6(NSUN2):c.622+7A>T rs16877704 0.03788
NM_000834.5(GRIN2B):c.1126-12A>G rs76777620 0.03782
NM_001244008.2(KIF1A):c.4666-18C>T rs80067787 0.03770
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala) rs9014 0.03641
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_001244008.2(KIF1A):c.234C>T (p.Gly78=) rs61744930 0.03600
NM_003070.5(SMARCA2):c.*698T>C rs45616134 0.03565
NM_171998.4(RAB39B):c.*1813C>A rs17052030 0.03516
NM_001127178.3(PIGG):c.2191G>A (p.Val731Ile) rs34916638 0.03501
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_013275.6(ANKRD11):c.4932G>A (p.Gly1644=) rs72821356 0.03413
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=) rs6096168 0.03400
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=) rs35945835 0.03379
NM_005359.6(SMAD4):c.*685A>C rs16952798 0.03369
NM_005334.3(HCFC1):c.4545G>A (p.Pro1515=) rs1051153 0.03363
NM_001330574.2(ZNF711):c.-449A>G rs375972814 0.03298
NM_005334.3(HCFC1):c.2382C>A (p.Ser794=) rs1051151 0.03295
NM_001377265.1(MAPT):c.*2269G>T rs73317039 0.03265
NM_000834.5(GRIN2B):c.15G>A (p.Ala5=) rs34315573 0.03193
NM_001377265.1(MAPT):c.*3848A>G rs114213384 0.03189
NM_153252.5(BRWD3):c.3602+14T>A rs73502699 0.03187
NM_006721.4(ADK):c.705T>C (p.Asp235=) rs16931480 0.03126
NM_003072.5(SMARCA4):c.2123+12C>T rs17001090 0.03024
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581 0.03000
NM_005334.3(HCFC1):c.1605+20G>T rs1002679 0.02967
NM_153252.5(BRWD3):c.*3483G>A rs116559809 0.02942
NM_012310.5(KIF4A):c.969A>G (p.Thr323=) rs5936873 0.02938
NM_016219.5(MAN1B1):c.2052C>T (p.Tyr684=) rs118117962 0.02913
NM_015338.6(ASXL1):c.582C>T (p.His194=) rs116633791 0.02852
NM_001244008.2(KIF1A):c.2977+13C>T rs116600932 0.02829
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=) rs61738955 0.02808
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_006765.4(TUSC3):c.912G>A (p.Ser304=) rs17121892 0.02710
NM_001111125.3(IQSEC2):c.2297+14G>A rs17002631 0.02684
NM_153252.5(BRWD3):c.*1036A>C rs41300175 0.02680
NM_171998.4(RAB39B):c.*1580C>G rs115301020 0.02663
NM_000834.5(GRIN2B):c.870C>T (p.Pro290=) rs1124894 0.02647
NM_000834.5(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246 0.02603
NM_001127178.3(PIGG):c.990T>C (p.Ser330=) rs11726338 0.02569
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_153252.5(BRWD3):c.*3787T>C rs146779779 0.02546
NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=) rs61744778 0.02524
NM_004068.4(AP2M1):c.707+56G>T rs2231220 0.02498
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His) rs117997391 0.02470
NM_015338.6(ASXL1):c.2985C>T (p.His995=) rs62206933 0.02455
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
NM_001110792.2(MECP2):c.*4576A>C rs3027920 0.02376
NM_024989.4(PGAP1):c.534T>G (p.Leu178=) rs35444896 0.02335
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_001244008.2(KIF1A):c.3901+11T>C rs56847463 0.02310
NM_017755.6(NSUN2):c.22C>T (p.Arg8Trp) rs181415619 0.02251
NM_001111125.3(IQSEC2):c.477G>A (p.Leu159=) rs185512321 0.02235
NM_018489.3(ASH1L):c.1318T>G (p.Cys440Gly) rs114218266 0.02209
NM_001110792.2(MECP2):c.*7748C>T rs3027917 0.02184
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228 0.02162
NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile) rs6058693 0.02141
NM_153252.5(BRWD3):c.*6157C>T rs142555243 0.02125
NM_130797.4(DPP6):c.813G>A (p.Gln271=) rs61736427 0.02116
NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=) rs2241683 0.02108
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=) rs61729371 0.02062
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02054
NM_003070.5(SMARCA2):c.*431G>A rs17387924 0.02045
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_005765.3(ATP6AP2):c.868G>C (p.Ala290Pro) rs35798522 0.02009
NM_016219.5(MAN1B1):c.*157C>G rs61545361 0.02001
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697 0.01993
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001244008.2(KIF1A):c.393C>T (p.Asn131=) rs35139906 0.01973
NM_003070.5(SMARCA2):c.*716A>G rs1061478 0.01921
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_016219.5(MAN1B1):c.590C>T (p.Pro197Leu) rs61744585 0.01884
NM_001110792.2(MECP2):c.*7856A>C rs3027915 0.01876
NM_153252.5(BRWD3):c.813+10G>C rs55824836 0.01875
NM_007118.4(TRIO):c.5523C>T (p.Ser1841=) rs17500731 0.01857
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_003070.5(SMARCA2):c.2992-8G>A rs77406154 0.01836
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_005334.3(HCFC1):c.3568G>A (p.Gly1190Ser) rs185987427 0.01804
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001244008.2(KIF1A):c.3282C>T (p.His1094=) rs35664935 0.01793
NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=) rs35663732 0.01790
NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp) rs35198305 0.01770
NM_003070.5(SMARCA2):c.2770-7C>G rs114448411 0.01734
NM_000834.5(GRIN2B):c.504C>A (p.Ile168=) rs36031537 0.01733
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_001371928.1(AHDC1):c.483C>T (p.Gly161=) rs112583157 0.01719
NM_017755.6(NSUN2):c.21T>C (p.Gly7=) rs184594943 0.01714
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152 0.01700
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=) rs61747988 0.01682
NM_006516.4(SLC2A1):c.-190G>C rs114514007 0.01675
NM_007118.4(TRIO):c.6154-47G>A rs62345860 0.01662
NM_017755.6(NSUN2):c.537+9T>C rs116785933 0.01651
NM_003619.4(PRSS12):c.*672C>T rs72919299 0.01650
NM_003070.5(SMARCA2):c.*620T>C rs7048532 0.01641
NM_007327.4(GRIN1):c.2241G>C (p.Val747=) rs116354349 0.01638
NM_007327.4(GRIN1):c.2244G>C (p.Thr748=) rs79570612 0.01637
NM_005334.3(HCFC1):c.4464G>A (p.Thr1488=) rs141722238 0.01632
NM_004586.3(RPS6KA3):c.113T>G (p.Ile38Ser) rs56218010 0.01619
NM_015338.6(ASXL1):c.2250C>T (p.Pro750=) rs35712951 0.01615
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=) rs146575027 0.01595
NM_015100.4(POGZ):c.930A>G (p.Thr310=) rs115103475 0.01595
NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=) rs189297725 0.01580
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_005359.6(SMAD4):c.*5170C>T rs117142232 0.01554
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu) rs34870395 0.01518
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=) rs142539117 0.01490
NM_005359.6(SMAD4):c.*5083G>A rs145596898 0.01488
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_001110792.2(MECP2):c.414-74C>T rs2071569 0.01484
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=) rs34217273 0.01468
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_013275.6(ANKRD11):c.2039C>G (p.Thr680Ser) rs145694621 0.01463
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01456
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_006950.3(SYN1):c.912C>T (p.Ala304=) rs62636605 0.01433
NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=) rs116297894 0.01425
NM_001244008.2(KIF1A):c.183+15C>T rs73102676 0.01412
NM_001184880.2(PCDH19):c.3018C>T (p.Asp1006=) rs16983426 0.01400
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_024989.4(PGAP1):c.2007C>T (p.Ala669=) rs149815494 0.01375
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788 0.01349
NM_001244008.2(KIF1A):c.2859-18G>A rs150076186 0.01335
NM_017755.6(NSUN2):c.*50T>G rs56282400 0.01331
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly) rs187134574 0.01317
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_001110556.2(FLNA):c.4598+8G>C rs112379782 0.01252
NM_004068.4(AP2M1):c.565+17G>A rs2231219 0.01250
NM_018026.4(PACS1):c.1199+16T>C rs61890329 0.01236
NM_006950.3(SYN1):c.838-8T>G rs12394306 0.01234
NM_001330574.2(ZNF711):c.798A>G (p.Thr266=) rs72549428 0.01228
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) rs75130619 0.01213
NM_003619.4(PRSS12):c.1272T>G (p.Val424=) rs2292598 0.01208
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=) rs34016116 0.01190
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_018489.3(ASH1L):c.4200C>T (p.Tyr1400=) rs112530764 0.01179
NM_006516.4(SLC2A1):c.19-207T>C rs41310434 0.01173
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_024665.7(TBL1XR1):c.1416+14A>G rs144060569 0.01159
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_001371928.1(AHDC1):c.2634C>T (p.Ala878=) rs60039430 0.01134
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_005359.6(SMAD4):c.*2122A>G rs149424787 0.01125
NM_001371928.1(AHDC1):c.832C>T (p.Pro278Ser) rs75930951 0.01124
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_000834.5(GRIN2B):c.2691C>T (p.Asn897=) rs35125534 0.01112
NM_024989.4(PGAP1):c.860+12C>A rs79169433 0.01104
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_024989.4(PGAP1):c.2604T>C (p.Asn868=) rs74459402 0.01097
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_016219.5(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515 0.01096
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_016219.5(MAN1B1):c.1255-5C>T rs73569532 0.01076
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=) rs56277715 0.01073
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_031466.8(TRAPPC9):c.-11+10G>A rs117206975 0.01054
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_006516.4(SLC2A1):c.973-17A>G rs111596088 0.01025
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_001244008.2(KIF1A):c.363+16C>T rs7594569 0.01003
NM_001079872.2(CUL4B):c.1324+15G>A rs143921252 0.01002
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.01001
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626 0.00997
NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=) rs62637652 0.00997
NM_002578.5(PAK3):c.1185C>T (p.Leu395=) rs150174049 0.00992
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_017755.6(NSUN2):c.*581T>C rs142451419 0.00970
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_014271.4(IL1RAPL1):c.-39G>A rs143054072 0.00962
NM_016219.5(MAN1B1):c.347A>G (p.Glu116Gly) rs115335100 0.00943
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=) rs56307810 0.00942
NM_001127178.3(PIGG):c.158C>A (p.Ala53Asp) rs28454778 0.00937
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) rs191549504 0.00927
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_000834.5(GRIN2B):c.1341C>T (p.Asp447=) rs35025065 0.00902
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_016219.5(MAN1B1):c.1932C>T (p.Val644=) rs34355967 0.00892
NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg) rs74033733 0.00879
NM_001244008.2(KIF1A):c.184-10C>T rs7594776 0.00865
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_003619.4(PRSS12):c.*1595A>G rs145858385 0.00851
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057 0.00841
NM_001244008.2(KIF1A):c.3063+17C>T rs116040950 0.00839
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_005359.6(SMAD4):c.*6513C>T rs76020793 0.00838
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_152564.5(VPS13B):c.*1539A>G rs80237506 0.00812
NM_001015877.2(PHF6):c.927C>T (p.Asp309=) rs112199174 0.00809
NM_005249.5(FOXG1):c.1233G>A (p.Ala411=) rs34654108 0.00801
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=) rs112703040 0.00799
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=) rs61744561 0.00798
NM_001110556.2(FLNA):c.1829-13T>C rs192905521 0.00789
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_001244008.2(KIF1A):c.5021+16C>T rs138847355 0.00783
NM_001110792.2(MECP2):c.413+22C>G rs2075597 0.00778
NM_007347.5(AP4E1):c.542+11T>G rs58882998 0.00762
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_171998.4(RAB39B):c.*1945A>T rs145867198 0.00760
NM_001371928.1(AHDC1):c.1326C>T (p.Gly442=) rs188125472 0.00758
NM_171998.4(RAB39B):c.*282G>T rs147213132 0.00758
NM_017755.6(NSUN2):c.123C>T (p.Ile41=) rs112327056 0.00752
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_003619.4(PRSS12):c.*912G>A rs10212745 0.00737
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_001371928.1(AHDC1):c.3264C>T (p.Ser1088=) rs149242867 0.00729
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545 0.00728
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_007327.4(GRIN1):c.1340-18_1340-17insGTA rs199804460 0.00721
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_153252.5(BRWD3):c.*1592G>C rs180892443 0.00718
NM_153252.5(BRWD3):c.*6902G>A rs188498975 0.00718
NM_001127178.3(PIGG):c.2069+16C>T rs144533568 0.00716
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_153252.5(BRWD3):c.*2323G>A rs191690327 0.00713
NM_001371928.1(AHDC1):c.1410C>T (p.Gly470=) rs138778676 0.00705
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser) rs61756316 0.00698
NM_003070.5(SMARCA2):c.669G>A (p.Gln223=) rs62639301 0.00696
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_001015877.2(PHF6):c.729+4A>G rs188961105 0.00691
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_001110792.2(MECP2):c.*3878G>C rs148230889 0.00683
NM_171998.4(RAB39B):c.*1006A>G rs138077054 0.00682
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00673
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_024989.4(PGAP1):c.1952+10A>C rs7609297 0.00652
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_016219.5(MAN1B1):c.1485A>G (p.Arg495=) rs113472164 0.00639
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_014271.4(IL1RAPL1):c.1191G>A (p.Glu397=) rs7049358 0.00631
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_001378120.1(MBD5):c.2519-18T>G rs555177897 0.00625
NM_003070.5(SMARCA2):c.*138C>T rs75720779 0.00625
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263 0.00624
NM_004586.3(RPS6KA3):c.1080G>A (p.Glu360=) rs114337467 0.00622
NM_017755.6(NSUN2):c.-27C>A rs190264173 0.00619
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) rs140852252 0.00612
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_003070.5(SMARCA2):c.*726T>C rs28374302 0.00597
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_001378120.1(MBD5):c.1596A>G (p.Val532=) rs114611333 0.00588
NM_001371727.1(GABRB2):c.438C>G (p.Gly146=) rs2964779 0.00576
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454 0.00568
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) rs78300927 0.00553
NM_004586.3(RPS6KA3):c.1989C>T (p.Asp663=) rs139718656 0.00549
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_005334.3(HCFC1):c.1445-14C>T rs184593569 0.00544
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773 0.00541
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_000834.5(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) rs150391716 0.00538
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met) rs147276945 0.00535
NM_015338.6(ASXL1):c.1965C>T (p.Thr655=) rs79865730 0.00535
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) rs142085721 0.00531
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_007327.4(GRIN1):c.1548G>A (p.Pro516=) rs75783429 0.00518
NM_006516.4(SLC2A1):c.417C>T (p.Phe139=) rs144538918 0.00517
NM_005359.6(SMAD4):c.*3398A>G rs182735651 0.00515
NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His) rs181285619 0.00514
NM_005334.3(HCFC1):c.3615C>T (p.Ser1205=) rs3027882 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_007327.4(GRIN1):c.1584G>A (p.Glu528=) rs116006955 0.00510
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_001110792.2(MECP2):c.*489G>C rs111565519 0.00505
NM_005359.6(SMAD4):c.*3662C>T rs114852346 0.00503
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596 0.00499
NM_001127178.3(PIGG):c.1520C>T (p.Ala507Val) rs144879126 0.00498
NM_001127178.3(PIGG):c.1930G>A (p.Glu644Lys) rs114931121 0.00498
NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=) rs79499872 0.00490
NM_001160372.4(TRAPPC9):c.7G>A (p.Val3Ile) rs76033442 0.00489
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_013275.6(ANKRD11):c.-137A>G rs75012888 0.00482
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231 0.00482
NM_001110792.2(MECP2):c.*328G>A rs62621673 0.00480
NM_016032.4(ZDHHC9):c.-204+6G>T rs3747339 0.00480
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_007098.4(CLTCL1):c.3493C>T (p.Arg1165Cys) rs190351859 0.00469
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_001111125.3(IQSEC2):c.3015+14G>C rs189183148 0.00462
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579 0.00457
NM_016219.5(MAN1B1):c.459G>A (p.Ser153=) rs140105878 0.00457
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_005334.3(HCFC1):c.2109G>A (p.Thr703=) rs3027888 0.00450
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_017755.6(NSUN2):c.510G>A (p.Leu170=) rs144888290 0.00445
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_016219.5(MAN1B1):c.1566+14C>T rs201606936 0.00440
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_152641.4(ARID2):c.4300G>T (p.Ala1434Ser) rs150136669 0.00436
NM_006765.4(TUSC3):c.862+19G>A rs144272482 0.00435
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
NM_018026.4(PACS1):c.858A>C (p.Ser286=) rs114730283 0.00432
NM_001378120.1(MBD5):c.297A>G (p.Leu99=) rs77213206 0.00431
NM_001127178.3(PIGG):c.759+16G>A rs148792489 0.00426
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_005359.6(SMAD4):c.*1820T>G rs141309481 0.00426
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060 0.00424
NM_000489.6(ATRX):c.485-17C>G rs193223073 0.00422
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) rs139071237 0.00422
NM_153252.5(BRWD3):c.*1992G>A rs193085939 0.00420
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=) rs139619000 0.00414
NM_018026.4(PACS1):c.1969A>C (p.Met657Leu) rs115947278 0.00414
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_016219.5(MAN1B1):c.1713C>T (p.Ile571=) rs12000048 0.00411
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645 0.00410
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_001371928.1(AHDC1):c.4782C>T (p.Pro1594=) rs61742782 0.00401
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_001079872.2(CUL4B):c.777-12C>T rs192860595 0.00395
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=) rs143580749 0.00390
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_018026.4(PACS1):c.534+13T>C rs138009664 0.00375
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_003072.5(SMARCA4):c.1140C>T (p.His380=) rs114594206 0.00372
NM_152564.5(VPS13B):c.7050+11A>G rs114546856 0.00372
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=) rs142928152 0.00371
NM_001330574.2(ZNF711):c.-297A>T rs772828408 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=) rs150642594 0.00365
NM_001015877.2(PHF6):c.730-11T>G rs192977933 0.00364
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=) rs116540923 0.00363
NM_001015877.2(PHF6):c.374+8T>C rs142596708 0.00360
NM_001110792.2(MECP2):c.*3477G>A rs56036177 0.00360
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr) rs34342624 0.00359
NM_001079872.2(CUL4B):c.2161-15T>G rs183114462 0.00355
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
NM_013275.6(ANKRD11):c.893-19C>T rs117052164 0.00353
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161 0.00349
NM_016219.5(MAN1B1):c.1905G>T (p.Ser635=) rs114484315 0.00344
NM_001110792.2(MECP2):c.*2956G>A rs267608358 0.00342
NM_015338.6(ASXL1):c.540C>T (p.Asn180=) rs74346706 0.00341
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=) rs150010654 0.00340
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=) rs113389928 0.00340
NM_001378120.1(MBD5):c.1638C>T (p.Ala546=) rs116413446 0.00337
NM_013275.6(ANKRD11):c.601+7A>G rs202074713 0.00337
NM_139058.3(ARX):c.1074-3T>C rs200700643 0.00337
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=) rs56338023 0.00336
NM_153252.5(BRWD3):c.*5133G>T rs41307391 0.00335
NM_171998.4(RAB39B):c.*1040C>T rs185958813 0.00335
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_016219.5(MAN1B1):c.1956T>C (p.Pro652=) rs75234317 0.00330
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) rs151274586 0.00329
NM_016219.5(MAN1B1):c.1761C>G (p.Val587=) rs115889896 0.00329
NM_016219.5(MAN1B1):c.183C>T (p.Asp61=) rs202182837 0.00329
NM_016219.5(MAN1B1):c.1896+7A>G rs143544706 0.00329
NM_152564.5(VPS13B):c.*655G>C rs78305289 0.00328
NM_016219.5(MAN1B1):c.1845A>G (p.Lys615=) rs77684216 0.00327
NM_001244008.2(KIF1A):c.3202+10C>A rs190997558 0.00326
NM_016219.5(MAN1B1):c.220-20A>C rs116149955 0.00326
NM_001244008.2(KIF1A):c.183+7C>T rs74469870 0.00324
NM_001127178.3(PIGG):c.771G>A (p.Thr257=) rs35496504 0.00322
NM_016219.5(MAN1B1):c.1897-12G>A rs76740252 0.00322
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_005359.6(SMAD4):c.*5259A>T rs139414609 0.00320
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_001371928.1(AHDC1):c.3054C>T (p.Ala1018=) rs78511171 0.00313
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln) rs149339002 0.00309
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_001111125.3(IQSEC2):c.3277+18G>A rs143966238 0.00306
NM_014795.4(ZEB2):c.403+18C>T rs116404871 0.00305
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=) rs141783755 0.00304
NM_007118.4(TRIO):c.5496+34G>A rs62345056 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_016219.5(MAN1B1):c.1065+16T>A rs200957986 0.00303
NM_001110792.2(MECP2):c.*2657G>A rs3027921 0.00301
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090 0.00297
NM_001244008.2(KIF1A):c.2266-20G>A rs141243762 0.00296
NM_001330574.2(ZNF711):c.*1411G>A rs779890560 0.00296
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_005334.3(HCFC1):c.5958C>T (p.Arg1986=) rs149729439 0.00292
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_001378120.1(MBD5):c.3942T>A (p.Gly1314=) rs115816749 0.00290
NM_001429.4(EP300):c.1623-20T>C rs151092312 0.00288
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=) rs146025366 0.00285
NM_024989.4(PGAP1):c.906T>C (p.Leu302=) rs138525017 0.00283
NM_153252.5(BRWD3):c.*4272C>T rs190439155 0.00283
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_005359.6(SMAD4):c.*2796G>T rs4939651 0.00278
NM_005359.6(SMAD4):c.*5419T>C rs146551171 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_007327.4(GRIN1):c.394-11G>A rs75081117 0.00274
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_018026.4(PACS1):c.2376C>T (p.Ala792=) rs145601427 0.00270
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_001244008.2(KIF1A):c.3816+18C>T rs201725464 0.00267
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_017755.6(NSUN2):c.1879G>A (p.Val627Ile) rs2303708 0.00262
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=) rs142499766 0.00260
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys) rs141734980 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001371928.1(AHDC1):c.470C>T (p.Ala157Val) rs146915829 0.00253
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=) rs187810230 0.00252
NM_001371928.1(AHDC1):c.561C>T (p.His187=) rs116570071 0.00252
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
NM_016032.4(ZDHHC9):c.167+10G>A rs140526450 0.00244
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_005765.3(ATP6AP2):c.38-5T>C rs190477001 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_002578.5(PAK3):c.531G>A (p.Glu177=) rs56270341 0.00239
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_001127178.3(PIGG):c.1114+8A>G rs182522437 0.00233
NM_001244008.2(KIF1A):c.1421+19G>A rs200809257 0.00233
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=) rs146648782 0.00233
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=) rs138435910 0.00230
NM_001032382.2(PQBP1):c.-18-69C>T rs150603792 0.00229
NM_006015.6(ARID1A):c.1188C>T (p.Gly396=) rs61749356 0.00229
NM_001184880.2(PCDH19):c.2796C>T (p.Asn932=) rs193148631 0.00228
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001127178.3(PIGG):c.1254G>A (p.Thr418=) rs139518242 0.00227
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_001110792.2(MECP2):c.413+95G>A rs267608460 0.00223
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_014271.4(IL1RAPL1):c.1605G>T (p.Thr535=) rs35305747 0.00223
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001330574.2(ZNF711):c.*122G>T rs755444976 0.00218
NM_003070.5(SMARCA2):c.*181C>T rs180701505 0.00218
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976 0.00216
NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=) rs145707539 0.00216
NM_016219.5(MAN1B1):c.1386C>T (p.Ala462=) rs141112920 0.00215
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=) rs61743619 0.00210
NM_016219.5(MAN1B1):c.1710G>A (p.Glu570=) rs144271949 0.00210
NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=) rs140783695 0.00209
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_005359.6(SMAD4):c.*2989A>G rs139526377 0.00208
NM_000834.5(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903 0.00206
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_001079872.2(CUL4B):c.1257-19T>C rs201629851 0.00205
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_015100.4(POGZ):c.860-5C>T rs144435581 0.00205
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) rs146141075 0.00205
NM_001110792.2(MECP2):c.*544G>A rs183349022 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_001110792.2(MECP2):c.*861T>G rs187614438 0.00196
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_016032.4(ZDHHC9):c.777+16C>T rs193236859 0.00196
NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=) rs143815273 0.00194
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729 0.00193
NM_006950.3(SYN1):c.528-19C>T rs190935498 0.00192
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=) rs61761958 0.00191
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775 0.00186
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) rs149526010 0.00186
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=) rs147726863 0.00185
NM_001127178.3(PIGG):c.1581C>T (p.Thr527=) rs143989093 0.00179
NM_001330574.2(ZNF711):c.*1260G>A rs73234669 0.00178
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met) rs143346525 0.00177
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_005359.6(SMAD4):c.*4748C>T rs375580807 0.00175
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_001127178.3(PIGG):c.1114+15C>T rs200262444 0.00170
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_005359.6(SMAD4):c.*2488T>A rs148190627 0.00169
NM_006015.6(ARID1A):c.135C>T (p.Ala45=) rs892415319 0.00168
NM_001172509.2(SATB2):c.1818G>T (p.Pro606=) rs141436870 0.00166
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853 0.00165
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_007327.4(GRIN1):c.525G>A (p.Ala175=) rs77812749 0.00163
NM_153252.5(BRWD3):c.*3447G>A rs767696195 0.00163
NM_153252.5(BRWD3):c.*4809T>G rs41311569 0.00162
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00159
NM_153252.5(BRWD3):c.2044+13A>G rs372899207 0.00159
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957 0.00158
NM_006015.6(ARID1A):c.1351-82C>T rs41303627 0.00158
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001127178.3(PIGG):c.902-16G>A rs187291662 0.00157
NM_001371928.1(AHDC1):c.3240T>C (p.Ser1080=) rs148001847 0.00157
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_006950.3(SYN1):c.980+14C>T rs376734047 0.00157
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn) rs142373563 0.00156
NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=) rs149359320 0.00156
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val) rs372632879 0.00155
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His) rs201043388 0.00154
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_007327.4(GRIN1):c.1809G>C (p.Leu603=) rs141249927 0.00153
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886 0.00152
NM_013275.6(ANKRD11):c.6827C>T (p.Pro2276Leu) rs573355746 0.00152
NM_024665.7(TBL1XR1):c.1123-14T>G rs117037344 0.00152
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 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_016219.5(MAN1B1):c.1980C>T (p.Phe660=) rs140496149 0.00148
NM_024989.4(PGAP1):c.1351-16A>G rs377329019 0.00148
NM_032436.4(CHAMP1):c.951T>C (p.Pro317=) rs144765511 0.00146
NM_001244008.2(KIF1A):c.2445-8C>T rs200705912 0.00145
NM_001371928.1(AHDC1):c.4021T>G (p.Cys1341Gly) rs111941243 0.00145
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val) rs61744864 0.00143
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00142
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=) rs150015583 0.00142
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=) rs79790275 0.00141
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val) rs148243995 0.00140
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser) rs374668457 0.00140
NM_018026.4(PACS1):c.535-4G>A rs112192900 0.00140
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001127178.3(PIGG):c.2150C>A (p.Ser717Tyr) rs117059276 0.00137
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=) rs144309427 0.00137
NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=) rs143287644 0.00137
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln) rs141346625 0.00137
NM_153252.5(BRWD3):c.*6640T>A rs192201825 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_001347721.2(DYRK1A):c.925-19A>G rs78428152 0.00136
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser) rs201168500 0.00135
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_002578.5(PAK3):c.*463T>C rs761662392 0.00134
NM_006772.3(SYNGAP1):c.1803G>A (p.Ala601=) rs77934848 0.00134
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly) rs186504463 0.00134
NM_153252.5(BRWD3):c.*5333G>T rs180875963 0.00134
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_001371928.1(AHDC1):c.125G>A (p.Arg42Gln) rs201360711 0.00132
NM_014271.4(IL1RAPL1):c.36C>T (p.Tyr12=) rs148060509 0.00132
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met) rs140998225 0.00131
NM_024989.4(PGAP1):c.649+11T>A rs181229301 0.00131
NM_007327.4(GRIN1):c.258+18C>T rs202160831 0.00130
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=) rs143600441 0.00127
NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525 0.00127
NM_005249.5(FOXG1):c.447C>T (p.Ala149=) rs112803404 0.00126
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) rs146747814 0.00126
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_001371727.1(GABRB2):c.984C>T (p.Tyr328=) rs140538607 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141 0.00124
NM_000834.5(GRIN2B):c.3117C>T (p.Tyr1039=) rs147762014 0.00123
NM_001330574.2(ZNF711):c.829G>A (p.Ala277Thr) rs145361311 0.00123
NM_001378120.1(MBD5):c.3978C>T (p.Val1326=) rs35692977 0.00123
NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val) rs149971443 0.00123
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_001371928.1(AHDC1):c.2745G>A (p.Leu915=) rs138452825 0.00119
NM_001371928.1(AHDC1):c.4200C>T (p.Pro1400=) rs149518384 0.00119
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001184880.2(PCDH19):c.2938C>T (p.Arg980Cys) rs3764758 0.00118
NM_005333.5(HCCS):c.5G>A (p.Gly2Asp) rs144641429 0.00118
NM_005334.3(HCFC1):c.2313C>T (p.Thr771=) rs145183787 0.00118
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_003619.4(PRSS12):c.645A>G (p.Gly215=) rs140470579 0.00116
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_024989.4(PGAP1):c.1729-12G>A rs75342998 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_001111125.3(IQSEC2):c.84C>T (p.Asn28=) rs782713602 0.00115
NM_001378120.1(MBD5):c.1368G>T (p.Ser456=) rs146020786 0.00115
NM_002397.5(MEF2C):c.811-13C>T rs201988423 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648 0.00113
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00113
NM_001127178.3(PIGG):c.2085C>T (p.Ala695=) rs150774662 0.00112
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_001110792.2(MECP2):c.*393G>A rs267608361 0.00111
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798 0.00111
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile) rs200852197 0.00111
NM_014271.4(IL1RAPL1):c.2067C>G (p.Thr689=) rs140330609 0.00111
NM_003070.5(SMARCA2):c.2349-3T>C rs371183012 0.00110
NM_001172509.2(SATB2):c.1434C>T (p.Gly478=) rs149056216 0.00109
NM_004586.3(RPS6KA3):c.139A>G (p.Ile47Val) rs140987045 0.00109
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=) rs533517668 0.00107
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_001244008.2(KIF1A):c.5025G>A (p.Pro1675=) rs148176695 0.00106
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=) rs148936933 0.00106
NM_005120.3(MED12):c.2981+13G>A rs73214870 0.00105
NM_004586.3(RPS6KA3):c.631+18G>A rs182515508 0.00104
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=) rs149562732 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_016032.4(ZDHHC9):c.626-10A>T rs188156112 0.00103
NM_000834.5(GRIN2B):c.1338A>G (p.Thr446=) rs141031272 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_005334.3(HCFC1):c.4068C>T (p.Pro1356=) rs185998087 0.00101
NM_006950.3(SYN1):c.1110C>T (p.Cys370=) rs141925310 0.00101
NM_001378120.1(MBD5):c.3754-9T>C rs370173652 0.00100
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_004586.3(RPS6KA3):c.1023T>C (p.His341=) rs150848826 0.00100
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00100
NM_006015.6(ARID1A):c.4152C>T (p.His1384=) rs149908828 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=) rs201418175 0.00099
NM_013275.6(ANKRD11):c.4440T>C (p.His1480=) rs139429949 0.00099
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_001371727.1(GABRB2):c.423C>G (p.Arg141=) rs147449850 0.00098
NM_001111125.3(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118 0.00097
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_001330574.2(ZNF711):c.2106A>G (p.Thr702=) rs138675194 0.00097
NM_002397.5(MEF2C):c.834+15C>T rs140447603 0.00097
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=) rs558301893 0.00097
NM_152564.5(VPS13B):c.11495+19G>A rs370575091 0.00097
NM_001371928.1(AHDC1):c.2976C>T (p.Cys992=) rs145774336 0.00096
NM_006772.3(SYNGAP1):c.296-8C>T rs201145910 0.00096
NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg) rs145415643 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_001110556.2(FLNA):c.1881C>T (p.Gly627=) rs188138322 0.00093
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_001429.4(EP300):c.6675G>A (p.Gln2225=) rs147880144 0.00092
NM_013275.6(ANKRD11):c.172C>A (p.Arg58=) rs144364610 0.00092
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_006015.6(ARID1A):c.3716-7C>T rs150792057 0.00090
NM_001110556.2(FLNA):c.1066-19C>T rs369196285 0.00089
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_006516.4(SLC2A1):c.680-12C>T rs150960456 0.00088
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) rs144434753 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_153252.5(BRWD3):c.*5264G>T rs760065405 0.00087
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu) rs202216051 0.00086
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_016219.5(MAN1B1):c.1229G>A (p.Arg410His) rs145477274 0.00085
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_001110792.2(MECP2):c.*554G>A rs267608353 0.00083
NM_001429.4(EP300):c.2998-14dup rs560058125 0.00083
NM_001429.4(EP300):c.3143-9T>C rs199773872 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00083
NM_004586.3(RPS6KA3):c.244-5T>C rs192189478 0.00083
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu) rs200351209 0.00083
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala) rs201401760 0.00083
NM_018026.4(PACS1):c.2581C>T (p.Leu861=) rs201326960 0.00083
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00082
NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=) rs149016890 0.00082
NM_000834.5(GRIN2B):c.1569C>T (p.Val523=) rs148573953 0.00081
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly) rs149841055 0.00081
NM_006516.4(SLC2A1):c.*22G>A rs2229683 0.00081
NM_006516.4(SLC2A1):c.1170C>T (p.Ile390=) rs2236574 0.00081
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) rs143041800 0.00081
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn) rs138971201 0.00079
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) rs146425236 0.00079
NM_005334.3(HCFC1):c.3492C>T (p.Ser1164=) rs376049260 0.00078
NM_007327.4(GRIN1):c.570+10G>A rs200924771 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_001110556.2(FLNA):c.720+12C>T rs367894653 0.00076
NM_001244008.2(KIF1A):c.3749+13G>T rs373544465 0.00076
NM_001347721.2(DYRK1A):c.1071+15G>A rs374505179 0.00076
NM_005334.3(HCFC1):c.5601C>T (p.Ala1867=) rs144160012 0.00076
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) rs536658556 0.00076
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=) rs144721281 0.00076
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00076
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_005359.6(SMAD4):c.*2914C>T rs147352474 0.00075
NM_001371928.1(AHDC1):c.726C>T (p.Ala242=) rs142598186 0.00074
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_001110556.2(FLNA):c.2310C>A (p.Asn770Lys) rs202109957 0.00073
NM_001110792.2(MECP2):c.*487G>C rs267608325 0.00073
NM_001371928.1(AHDC1):c.489A>G (p.Leu163=) rs142502245 0.00073
NM_003070.5(SMARCA2):c.4440G>A (p.Thr1480=) rs184913034 0.00073
NM_004586.3(RPS6KA3):c.1884A>T (p.Glu628Asp) rs150107747 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_014271.4(IL1RAPL1):c.-20C>T rs200878713 0.00072
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123 0.00071
NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile) rs147744268 0.00071
NM_152641.4(ARID2):c.1472C>G (p.Thr491Ser) rs149755754 0.00071
NM_000834.5(GRIN2B):c.228C>T (p.Thr76=) rs77299791 0.00070
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001172509.2(SATB2):c.210C>T (p.Asp70=) rs34311963 0.00070
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_004380.3(CREBBP):c.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_005359.6(SMAD4):c.*6009G>C rs181250637 0.00070
NM_006516.4(SLC2A1):c.1372C>A (p.Arg458=) rs13306758 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_001110556.2(FLNA):c.753C>T (p.Asn251=) rs377507152 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) rs201280462 0.00069
NM_000834.5(GRIN2B):c.1780+8C>T rs199986080 0.00068
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00068
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu) rs144110632 0.00068
NM_005334.3(HCFC1):c.503+14C>G rs371163886 0.00068
NM_006015.6(ARID1A):c.162C>T (p.Ala54=) rs1001634270 0.00068
NM_013275.6(ANKRD11):c.1842C>T (p.Ser614=) rs764479350 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_001110556.2(FLNA):c.4142+5_4142+14dup rs782735723 0.00067
NM_001172509.2(SATB2):c.2121C>T (p.Ser707=) rs141424911 0.00067
NM_001371928.1(AHDC1):c.480C>T (p.Pro160=) rs147707628 0.00067
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=) rs148749268 0.00067
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_020699.4(GATAD2B):c.852T>C (p.Leu284=) rs149608942 0.00067
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_014271.4(IL1RAPL1):c.83-6C>T rs180930821 0.00066
NM_018026.4(PACS1):c.1731+18G>A rs560600114 0.00066
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001172509.2(SATB2):c.195C>T (p.Val65=) rs147613731 0.00065
NM_001347721.2(DYRK1A):c.1213-7C>T rs199867876 0.00065
NM_007327.4(GRIN1):c.1632+14G>A rs200337681 0.00065
NM_024665.7(TBL1XR1):c.1251-8T>A rs148654942 0.00065
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=) rs184815562 0.00064
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=) rs149626938 0.00064
NM_016219.5(MAN1B1):c.1765-17C>T rs569907992 0.00064
NM_000834.5(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137 0.00063
NM_003619.4(PRSS12):c.2535C>T (p.Ser845=) rs145964630 0.00063
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_005334.3(HCFC1):c.4696G>A (p.Val1566Met) rs368279501 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_001110556.2(FLNA):c.651C>T (p.Asp217=) rs34644500 0.00062
NM_001110792.2(MECP2):c.*371G>C rs187851059 0.00062
NM_001111125.3(IQSEC2):c.343G>T (p.Gly115Cys) rs781984542 0.00062
NM_001429.4(EP300):c.94+13A>G rs201124490 0.00062
NM_005249.5(FOXG1):c.489C>T (p.Gly163=) rs375378714 0.00062
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_001371928.1(AHDC1):c.1008C>A (p.Pro336=) rs369467920 0.00061
NM_002578.5(PAK3):c.483A>G (p.Ala161=) rs146801179 0.00061
NM_005359.6(SMAD4):c.*2361A>G rs143842829 0.00061
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=) rs142429183 0.00061
NM_006516.4(SLC2A1):c.275+17C>T rs761669510 0.00061
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161 0.00061
NM_013275.6(ANKRD11):c.6791C>T (p.Pro2264Leu) rs565435346 0.00061
NM_001110556.2(FLNA):c.3876C>T (p.His1292=) rs199917719 0.00060
NM_001111125.3(IQSEC2):c.1592G>C (p.Arg531Pro) rs149027201 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_001371928.1(AHDC1):c.4533G>A (p.Thr1511=) rs139569820 0.00060
NM_003070.5(SMARCA2):c.4737+13G>A rs149380449 0.00060
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile) rs140137262 0.00060
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_001110792.2(MECP2):c.*1237T>C rs267608365 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001244008.2(KIF1A):c.618G>A (p.Ala206=) rs137913879 0.00059
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu) rs140169338 0.00059
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=) rs145406441 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_007327.4(GRIN1):c.768G>C (p.Gly256=) rs141473515 0.00059
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333 0.00059
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) rs140896392 0.00059
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) rs151212782 0.00058
NM_005334.3(HCFC1):c.3930A>T (p.Ala1310=) rs200399318 0.00058
NM_013275.6(ANKRD11):c.227-10C>T rs201226457 0.00058
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001371928.1(AHDC1):c.1608C>T (p.Pro536=) rs143794200 0.00057
NM_005249.5(FOXG1):c.206C>A (p.Pro69Gln) rs727503933 0.00057
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_001371928.1(AHDC1):c.4384A>C (p.Lys1462Gln) rs145080672 0.00056
NM_013275.6(ANKRD11):c.7311C>T (p.Pro2437=) rs377547565 0.00056
NM_001184880.2(PCDH19):c.717C>T (p.Ser239=) rs199628956 0.00055
NM_001330574.2(ZNF711):c.*272G>A rs187954106 0.00055
NM_005334.3(HCFC1):c.2974G>A (p.Ala992Thr) rs200997332 0.00055
NM_005359.6(SMAD4):c.*5627G>A rs185010226 0.00055
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=) rs147554664 0.00055
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562 0.00054
NM_001244008.2(KIF1A):c.3672G>A (p.Arg1224=) rs371024769 0.00053
NM_001244008.2(KIF1A):c.849C>T (p.Ser283=) rs187442951 0.00053
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=) rs190789698 0.00053
NM_001371928.1(AHDC1):c.3572G>A (p.Ser1191Asn) rs146401682 0.00052
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00052
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val) rs145812868 0.00052
NM_001110556.2(FLNA):c.6907+14G>T rs199934017 0.00051
NM_001371928.1(AHDC1):c.4329C>G (p.His1443Gln) rs199527867 0.00051
NM_001371928.1(AHDC1):c.870G>A (p.Pro290=) rs369838366 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_007327.4(GRIN1):c.1513C>T (p.Leu505=) rs139637382 0.00051
NM_013275.6(ANKRD11):c.3009C>T (p.His1003=) rs140023344 0.00051
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212 0.00051
NM_171998.4(RAB39B):c.*1079A>C rs147409916 0.00051
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00050
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) rs139237825 0.00050
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833 0.00050
NM_001371928.1(AHDC1):c.2827A>C (p.Thr943Pro) rs150289747 0.00050
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_005334.3(HCFC1):c.5496A>G (p.Pro1832=) rs376756703 0.00050
NM_005359.6(SMAD4):c.*4378T>G rs540039847 0.00050
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu) rs202034147 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00050
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536 0.00049
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_005359.6(SMAD4):c.*6492A>T rs569819237 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_153252.5(BRWD3):c.*2723A>G rs756899423 0.00049
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_005249.5(FOXG1):c.503G>C (p.Gly168Ala) rs148157138 0.00048
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729 0.00048
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768 0.00047
NM_003072.5(SMARCA4):c.2817C>T (p.Phe939=) rs147791182 0.00047
NM_003072.5(SMARCA4):c.4171-13A>G rs201298366 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_013275.6(ANKRD11):c.6201C>T (p.Ser2067=) rs753589168 0.00047
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001371727.1(GABRB2):c.1227C>T (p.Leu409=) rs146425610 0.00046
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=) rs150497848 0.00046
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NM_000834.5(GRIN2B):c.1851C>T (p.Ser617=) rs147373250 0.00045
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_005359.6(SMAD4):c.*4862A>G rs139595540 0.00045
NM_013275.6(ANKRD11):c.-158G>T rs1048978329 0.00045
NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=) rs376468392 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00044
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_000834.5(GRIN2B):c.4101C>T (p.Pro1367=) rs112932810 0.00043
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 0.00043
NM_024989.4(PGAP1):c.1220+19T>C rs142559942 0.00043
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885 0.00042
NM_015338.6(ASXL1):c.1923C>T (p.Ile641=) rs551524526 0.00042
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000834.5(GRIN2B):c.4230G>A (p.Thr1410=) rs149655315 0.00041
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr) rs139239852 0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_024989.4(PGAP1):c.2734C>T (p.Pro912Ser) rs147312612 0.00041
NM_001110556.2(FLNA):c.5055G>A (p.Thr1685=) rs372863999 0.00040
NM_001378120.1(MBD5):c.2254A>G (p.Ile752Val) rs147455836 0.00040
NM_005334.3(HCFC1):c.1986C>T (p.Thr662=) rs377463848 0.00040
NM_005334.3(HCFC1):c.5276A>G (p.Asn1759Ser) rs782384589 0.00040
NM_001353921.2(ARHGEF9):c.675G>A (p.Gln225=) rs140777637 0.00039
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044 0.00039
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00039
NM_006015.6(ARID1A):c.393G>C (p.Gly131=) rs768590350 0.00039
NM_007327.4(GRIN1):c.1864+17C>T rs199730840 0.00039
NM_001110792.2(MECP2):c.*3662A>G rs267608366 0.00038
NM_001184880.2(PCDH19):c.3400A>C (p.Asn1134His) rs141816797 0.00038
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222 0.00038
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_005120.3(MED12):c.5400+7G>A rs201254124 0.00038
NM_005334.3(HCFC1):c.2604C>T (p.Ala868=) rs369241538 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474 0.00038
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) rs767529359 0.00038
NM_024665.7(TBL1XR1):c.1251-13C>G rs764679582 0.00038
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001371928.1(AHDC1):c.2532C>T (p.Leu844=) rs149713889 0.00037
NM_013275.6(ANKRD11):c.1258G>A (p.Val420Met) rs147180412 0.00037
NM_015100.4(POGZ):c.945T>C (p.Asn315=) rs144073313 0.00037
NM_001110556.2(FLNA):c.6870C>T (p.Asp2290=) rs782651736 0.00036
NM_001244008.2(KIF1A):c.405C>T (p.Asn135=) rs151212200 0.00036
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) rs202136878 0.00036
NM_005120.3(MED12):c.397-12A>T rs192515277 0.00036
NM_005359.6(SMAD4):c.*412A>G rs28403611 0.00036
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser) rs144516367 0.00036
NM_014271.4(IL1RAPL1):c.1136A>G (p.Lys379Arg) rs138267399 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) rs111380592 0.00035
NM_005334.3(HCFC1):c.2626G>A (p.Gly876Ser) rs200053475 0.00035
NM_005334.3(HCFC1):c.3211G>A (p.Val1071Met) rs190844812 0.00035
NM_005334.3(HCFC1):c.4943-11C>T rs375388306 0.00035
NM_016032.4(ZDHHC9):c.291G>A (p.Ala97=) rs77513704 0.00035
NM_018026.4(PACS1):c.631T>C (p.Leu211=) rs151082834 0.00035
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) rs145635937 0.00034
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_005334.3(HCFC1):c.3381C>T (p.Val1127=) rs200577062 0.00034
NM_013275.6(ANKRD11):c.5766C>T (p.Ala1922=) rs373393326 0.00034
NM_018026.4(PACS1):c.1838+9T>C rs145783184 0.00034
NM_024665.7(TBL1XR1):c.865-19C>T rs375720678 0.00034
NM_024989.4(PGAP1):c.2100G>A (p.Leu700=) rs139927561 0.00034
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=) rs140978841 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_015338.6(ASXL1):c.2337T>G (p.Pro779=) rs143613684 0.00033
NM_001110556.2(FLNA):c.1716C>T (p.Thr572=) rs201550267 0.00032
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729 0.00032
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala) rs151074395 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) rs143779557 0.00032
NM_024989.4(PGAP1):c.2630+15T>C rs375452864 0.00032
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001111125.3(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394 0.00031
NM_001371928.1(AHDC1):c.1536C>T (p.Arg512=) rs370692975 0.00031
NM_003619.4(PRSS12):c.1144C>T (p.Leu382=) rs146677360 0.00031
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=) rs144649776 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_005334.3(HCFC1):c.717C>G (p.Thr239=) rs372516617 0.00031
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_000834.5(GRIN2B):c.45G>A (p.Val15=) rs374735893 0.00030
NM_001110556.2(FLNA):c.1328G>A (p.Arg443His) rs782282149 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001110556.2(FLNA):c.861C>T (p.Tyr287=) rs375503410 0.00030
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_000489.6(ATRX):c.4957-20T>C rs373789026 0.00029
NM_000834.5(GRIN2B):c.3799G>T (p.Ala1267Ser) rs141844705 0.00029
NM_000834.5(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012 0.00029
NM_001110556.2(FLNA):c.2023-8C>T rs587780335 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268 0.00029
NM_001172509.2(SATB2):c.1386+18C>T rs199984701 0.00029
NM_001371928.1(AHDC1):c.225A>G (p.Pro75=) rs377231405 0.00029
NM_001371928.1(AHDC1):c.657G>A (p.Thr219=) rs148311907 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_005249.5(FOXG1):c.201G>T (p.Pro67=) rs587780944 0.00029
NM_005334.3(HCFC1):c.3963A>G (p.Pro1321=) rs377467572 0.00029
NM_005334.3(HCFC1):c.4017C>T (p.Asn1339=) rs373690520 0.00029
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser) rs139576809 0.00029
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=) rs139369265 0.00029
NM_018026.4(PACS1):c.2294-7_2294-6del rs534796219 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662 0.00028
NM_001371928.1(AHDC1):c.4603G>A (p.Ala1535Thr) rs193153262 0.00028
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_005334.3(HCFC1):c.4896C>T (p.Ala1632=) rs781955031 0.00028
NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys) rs137920574 0.00028
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=) rs144272459 0.00027
NM_006772.3(SYNGAP1):c.1136C>T (p.Ser379Leu) rs371883908 0.00027
NM_018026.4(PACS1):c.1881T>C (p.Ala627=) rs550567165 0.00027
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys) rs139646537 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_000834.5(GRIN2B):c.2703G>A (p.Leu901=) rs145005918 0.00026
NM_001110556.2(FLNA):c.2656+18A>G rs375154492 0.00026
NM_001111125.3(IQSEC2):c.188A>G (p.Glu63Gly) rs782051125 0.00026
NM_005120.3(MED12):c.4528-19T>C rs370859385 0.00026
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633 0.00026
NM_005359.6(SMAD4):c.*1659C>A rs574896468 0.00026
NM_006015.6(ARID1A):c.1131C>T (p.Thr377=) rs532591067 0.00026
NM_007327.4(GRIN1):c.1044C>T (p.Phe348=) rs143483243 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala) rs140593583 0.00026
NM_015100.4(POGZ):c.2235-10T>C rs557225984 0.00026
NM_018026.4(PACS1):c.1839-19C>T rs201219981 0.00026
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) rs369118921 0.00026
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001172509.2(SATB2):c.151G>A (p.Val51Met) rs540871216 0.00025
NM_001353921.2(ARHGEF9):c.939C>G (p.Asp313Glu) rs143490560 0.00025
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val) rs138482029 0.00025
NM_005120.3(MED12):c.736-14C>G rs373707149 0.00025
NM_006765.4(TUSC3):c.1028+11T>C rs187670751 0.00025
NM_007327.4(GRIN1):c.693A>C (p.Val231=) rs201818201 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_001371928.1(AHDC1):c.782C>T (p.Ala261Val) rs144941412 0.00024
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00024
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_013275.6(ANKRD11):c.5553C>T (p.Tyr1851=) rs372041087 0.00024
NM_016219.5(MAN1B1):c.1445+19C>T rs374413288 0.00024
NM_018026.4(PACS1):c.1617C>T (p.His539=) rs113972076 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
NM_001244008.2(KIF1A):c.3053A>C (p.His1018Pro) rs201846946 0.00023
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_002578.5(PAK3):c.-63A>G rs192192146 0.00023
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=) rs779283100 0.00023
NM_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_015100.4(POGZ):c.3024A>G (p.Arg1008=) rs147095604 0.00023
NM_139058.3(ARX):c.1247C>G (p.Ala416Gly) rs778734352 0.00023
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00022
NM_001110792.2(MECP2):c.*363G>C rs62621675 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_001127178.3(PIGG):c.2279G>A (p.Arg760His) rs200170221 0.00022
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile) rs149152296 0.00022
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457 0.00022
NM_015338.6(ASXL1):c.2526T>C (p.Asn842=) rs144841799 0.00022
NM_016032.4(ZDHHC9):c.978+15C>T rs367975001 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_031206.7(LAS1L):c.1893A>C (p.Gly631=) rs200815004 0.00022
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=) rs199996308 0.00021
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) rs189595164 0.00021
NM_001371928.1(AHDC1):c.2538G>A (p.Ser846=) rs202137607 0.00021
NM_001378120.1(MBD5):c.2162C>T (p.Pro721Leu) rs138639760 0.00021
NM_001429.4(EP300):c.6043A>G (p.Met2015Val) rs1351718424 0.00021
NM_003070.5(SMARCA2):c.3685-6C>A rs201731141 0.00021
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp) rs145808703 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_005249.5(FOXG1):c.181C>T (p.Pro61Ser) rs762634382 0.00021
NM_005359.6(SMAD4):c.*5801T>C rs577928234 0.00021
NM_006950.3(SYN1):c.1055+12G>A rs373071109 0.00021
NM_007327.4(GRIN1):c.394-19G>A rs371244693 0.00021
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=) rs142850229 0.00021
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001127178.3(PIGG):c.588G>A (p.Thr196=) rs149455987 0.00020
NM_001353921.2(ARHGEF9):c.946-4C>A rs56398019 0.00020
NM_001378120.1(MBD5):c.1535C>T (p.Ser512Phe) rs201695275 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_005334.3(HCFC1):c.5952C>T (p.Ala1984=) rs200345511 0.00020
NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=) rs57365292 0.00020
NM_013275.6(ANKRD11):c.275G>A (p.Arg92Gln) rs143894223 0.00020
NM_013275.6(ANKRD11):c.5073G>A (p.Ala1691=) rs192176841 0.00020
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=) rs200783129 0.00020
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=) rs201735478 0.00020
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601 0.00019
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001172509.2(SATB2):c.1035C>A (p.Ile345=) rs150824088 0.00019
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser) rs142988030 0.00019
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_005334.3(HCFC1):c.4942+11G>A rs782730900 0.00019
NM_006950.3(SYN1):c.999G>T (p.Gly333=) rs752926074 0.00019
NM_013275.6(ANKRD11):c.280G>C (p.Ala94Pro) rs190143218 0.00019
NM_013275.6(ANKRD11):c.838G>T (p.Val280Leu) rs199778705 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) rs398124212 0.00018
NM_001110556.2(FLNA):c.2103C>T (p.His701=) rs200227077 0.00018
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile) rs201656372 0.00018
NM_001110556.2(FLNA):c.2954T>C (p.Val985Ala) rs782804253 0.00018
NM_001110556.2(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848 0.00018
NM_001110556.2(FLNA):c.6847A>C (p.Ile2283Leu) rs373037983 0.00018
NM_001110556.2(FLNA):c.958G>A (p.Val320Met) rs781889196 0.00018
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001172509.2(SATB2):c.1386+19G>A rs374300066 0.00018
NM_001244008.2(KIF1A):c.2582+4G>A rs572013653 0.00018
NM_001244008.2(KIF1A):c.3202+8G>A rs371620074 0.00018
NM_001244008.2(KIF1A):c.364-14C>G rs376290711 0.00018
NM_001244008.2(KIF1A):c.3681G>A (p.Pro1227=) rs370913170 0.00018
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=) rs775395101 0.00018
NM_001353921.2(ARHGEF9):c.1330A>G (p.Ile444Val) rs141815718 0.00018
NM_001371727.1(GABRB2):c.1213T>C (p.Leu405=) rs142424271 0.00018
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_006765.4(TUSC3):c.568-15A>G rs186717319 0.00018
NM_013275.6(ANKRD11):c.4272T>C (p.Ser1424=) rs373066750 0.00018
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_000834.5(GRIN2B):c.1780+9G>A rs201461091 0.00017
NM_000834.5(GRIN2B):c.2599-19C>A rs3751258 0.00017
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001371727.1(GABRB2):c.77+18T>C rs200524787 0.00017
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_004586.3(RPS6KA3):c.2073C>T (p.Asn691=) rs766164918 0.00017
NM_006015.6(ARID1A):c.759C>G (p.Pro253=) rs747694475 0.00017
NM_013275.6(ANKRD11):c.3423C>T (p.Ser1141=) rs142005632 0.00017
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866 0.00016
NM_001110556.2(FLNA):c.5534G>A (p.Arg1845His) rs782193125 0.00016
NM_001184880.2(PCDH19):c.513C>T (p.Asn171=) rs749602848 0.00016
NM_001244008.2(KIF1A):c.4249T>A (p.Ser1417Thr) rs200855792 0.00016
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) rs139951165 0.00016
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg) rs140300789 0.00016
NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) rs140296303 0.00016
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=) rs370597423 0.00016
NM_013275.6(ANKRD11):c.3780G>A (p.Ser1260=) rs139288405 0.00016
NM_013275.6(ANKRD11):c.5625C>T (p.Val1875=) rs201082380 0.00016
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) rs147895689 0.00016
NM_024989.4(PGAP1):c.2467C>G (p.Leu823Val) rs138036688 0.00016
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) rs375418085 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001368397.1(FRMPD4):c.2599A>G (p.Asn867Asp) rs144170600 0.00015
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001429.4(EP300):c.5565A>G (p.Pro1855=) rs150532830 0.00015
NM_003070.5(SMARCA2):c.677A>C (p.Gln226Pro) rs147609454 0.00015
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=) rs746415437 0.00015
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=) rs117115765 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00015
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00015
NM_005334.3(HCFC1):c.5160C>T (p.Ala1720=) rs370379881 0.00015
NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu) rs570265865 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_016219.5(MAN1B1):c.587G>A (p.Arg196His) rs200410163 0.00015
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380 0.00015
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001110556.2(FLNA):c.4506C>T (p.Asn1502=) rs200857989 0.00014
NM_001110556.2(FLNA):c.4711G>A (p.Asp1571Asn) rs190415098 0.00014
NM_001110556.2(FLNA):c.7568G>A (p.Ser2523Asn) rs782555930 0.00014
NM_001110792.2(MECP2):c.*2556T>A rs267608356 0.00014
NM_001110792.2(MECP2):c.*359G>C rs62621674 0.00014
NM_001110792.2(MECP2):c.*55C>G rs267608344 0.00014
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001111125.3(IQSEC2):c.2007C>T (p.Gly669=) rs782769823 0.00014
NM_001172509.2(SATB2):c.405C>T (p.Pro135=) rs150990155 0.00014
NM_001244008.2(KIF1A):c.258T>C (p.Phe86=) rs183284555 0.00014
NM_001244008.2(KIF1A):c.3094A>T (p.Met1032Leu) rs370378060 0.00014
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) rs76458950 0.00014
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His) rs756785454 0.00014
NM_001371727.1(GABRB2):c.1159C>T (p.Arg387Trp) rs140795978 0.00014
NM_001371928.1(AHDC1):c.4797C>T (p.Thr1599=) rs149147457 0.00014
NM_001429.4(EP300):c.2916T>C (p.Pro972=) rs142769483 0.00014
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro) rs748747684 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00014
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_005334.3(HCFC1):c.6069-5C>T rs782321258 0.00014
NM_006516.4(SLC2A1):c.138G>C (p.Gln46His) rs149998596 0.00014
NM_006950.3(SYN1):c.980+20C>A rs777705880 0.00014
NM_007327.4(GRIN1):c.1340C>A (p.Pro447His) rs587780348 0.00014
NM_013275.6(ANKRD11):c.4391A>G (p.Lys1464Arg) rs147285830 0.00014
NM_013275.6(ANKRD11):c.6375C>T (p.Ala2125=) rs75629150 0.00014
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=) rs144835963 0.00014
NM_014795.4(ZEB2):c.2457A>G (p.Ser819=) rs144184948 0.00014
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=) rs572507342 0.00014
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val) rs199951665 0.00014
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555 0.00014
NM_020699.4(GATAD2B):c.1530+14T>C rs574345181 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_001110556.2(FLNA):c.2725G>A (p.Val909Ile) rs199911951 0.00013
NM_001110556.2(FLNA):c.3522C>T (p.Thr1174=) rs373625856 0.00013
NM_001374828.1(ARID1B):c.1881G>A (p.Pro627=) rs142939952 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_002578.5(PAK3):c.918G>A (p.Lys306=) rs151056810 0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu) rs149016283 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895 0.00013
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005334.3(HCFC1):c.1119A>G (p.Val373=) rs782547175 0.00013
NM_005334.3(HCFC1):c.6005-18C>G rs781820710 0.00013
NM_006516.4(SLC2A1):c.517-18G>A rs372553463 0.00013
NM_013275.6(ANKRD11):c.5038C>T (p.Leu1680=) rs142473716 0.00013
NM_017755.6(NSUN2):c.*563C>T rs374769713 0.00013
NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=) rs561869177 0.00013
NM_024989.4(PGAP1):c.1848T>C (p.Ser616=) rs374678391 0.00013
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) rs181034787 0.00013
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_000489.6(ATRX):c.4317+13T>C rs201710363 0.00012
NM_000489.6(ATRX):c.662+11T>C rs375372323 0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_001110556.2(FLNA):c.1933G>A (p.Val645Ile) rs373286506 0.00012
NM_001110556.2(FLNA):c.5715G>A (p.Pro1905=) rs367674709 0.00012
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001111125.3(IQSEC2):c.2952A>C (p.Pro984=) rs782760727 0.00012
NM_001127178.3(PIGG):c.1594G>C (p.Gly532Arg) rs781714196 0.00012
NM_001127178.3(PIGG):c.2769C>T (p.Tyr923=) rs148579497 0.00012
NM_001172509.2(SATB2):c.862G>A (p.Ala288Thr) rs142825652 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_005334.3(HCFC1):c.3853G>A (p.Val1285Met) rs199611189 0.00012
NM_005334.3(HCFC1):c.3987C>T (p.Thr1329=) rs370113081 0.00012
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu) rs374369335 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_018026.4(PACS1):c.698G>A (p.Gly233Asp) rs201067492 0.00012
NM_024989.4(PGAP1):c.2287-11A>G rs369759909 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_000489.6(ATRX):c.1032C>T (p.Ser344=) rs143491422 0.00011
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507 0.00011
NM_000834.5(GRIN2B):c.1328+17A>G rs201560542 0.00011
NM_000834.5(GRIN2B):c.190G>A (p.Val64Met) rs150070901 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299 0.00011
NM_001110556.2(FLNA):c.1310G>A (p.Arg437Gln) rs782320818 0.00011
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001111125.3(IQSEC2):c.2931G>A (p.Gln977=) rs140023181 0.00011
NM_001111125.3(IQSEC2):c.3116-19G>A rs782264682 0.00011
NM_001172509.2(SATB2):c.2034G>C (p.Glu678Asp) rs147191297 0.00011
NM_001244008.2(KIF1A):c.3671G>A (p.Arg1224Gln) rs375993206 0.00011
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr) rs745861253 0.00011
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser) rs370090236 0.00011
NM_001353921.2(ARHGEF9):c.946-16C>T rs781867369 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378120.1(MBD5):c.3793A>T (p.Ile1265Leu) rs774513612 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.3502-13G>A rs547213630 0.00011
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644 0.00011
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001429.4(EP300):c.5461C>A (p.Arg1821=) rs780579609 0.00011
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_005334.3(HCFC1):c.4626G>A (p.Glu1542=) rs372900932 0.00011
NM_005359.6(SMAD4):c.*2353C>T rs550660083 0.00011
NM_006015.6(ARID1A):c.2988+36G>A rs372175005 0.00011
NM_007327.4(GRIN1):c.1632+8G>C rs762558895 0.00011
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met) rs150810048 0.00011
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=) rs145201706 0.00011
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=) rs140203774 0.00011
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 0.00010
NM_000489.6(ATRX):c.4214+6A>G rs782562759 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000834.5(GRIN2B):c.1781-3C>T rs201520798 0.00010
NM_000834.5(GRIN2B):c.771C>T (p.Ile257=) rs142203984 0.00010
NM_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00010
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00010
NM_001110556.2(FLNA):c.6227-7C>T rs370491691 0.00010
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) rs781881872 0.00010
NM_001110556.2(FLNA):c.7221C>T (p.Asn2407=) rs782129907 0.00010
NM_001110792.2(MECP2):c.*3658C>T rs267608359 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_001111125.3(IQSEC2):c.596C>T (p.Pro199Leu) rs782439813 0.00010
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450 0.00010
NM_001429.4(EP300):c.2925A>G (p.Glu975=) rs75752076 0.00010
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_005120.3(MED12):c.321A>C (p.Ala107=) rs748627661 0.00010
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_005359.6(SMAD4):c.*12G>A rs148687037 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_013275.6(ANKRD11):c.1725C>T (p.Ser575=) rs151124308 0.00010
NM_013275.6(ANKRD11):c.69G>A (p.Glu23=) rs533051571 0.00010
NM_014795.4(ZEB2):c.1587G>A (p.Thr529=) rs148709333 0.00010
NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=) rs148597247 0.00010
NM_016032.4(ZDHHC9):c.984C>G (p.Pro328=) rs146317883 0.00010
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_153252.5(BRWD3):c.*575G>T rs776687351 0.00010
NM_000489.6(ATRX):c.189+7A>G rs781842591 0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.798C>T (p.Tyr266=) rs376341197 0.00009
NM_001110556.2(FLNA):c.2123G>A (p.Arg708Gln) rs371707134 0.00009
NM_001110556.2(FLNA):c.2181C>T (p.Gly727=) rs376972653 0.00009
NM_001110556.2(FLNA):c.4075C>T (p.Arg1359Cys) rs369768801 0.00009
NM_001110556.2(FLNA):c.423C>T (p.Ile141=) rs782198156 0.00009
NM_001110556.2(FLNA):c.4533T>C (p.Tyr1511=) rs191786597 0.00009
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_001110556.2(FLNA):c.5658C>T (p.Phe1886=) rs182894587 0.00009
NM_001110556.2(FLNA):c.7023+10C>T rs782777494 0.00009
NM_001110556.2(FLNA):c.7066A>C (p.Ser2356Arg) rs781823700 0.00009
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001110556.2(FLNA):c.7596A>G (p.Ser2532=) rs200694807 0.00009
NM_001110556.2(FLNA):c.7756+20G>A rs782395246 0.00009
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001244008.2(KIF1A):c.2925C>T (p.Ser975=) rs556611351 0.00009
NM_001244008.2(KIF1A):c.3465C>T (p.Asn1155=) rs371782922 0.00009
NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=) rs375309925 0.00009
NM_001371928.1(AHDC1):c.1447G>A (p.Val483Ile) rs140548603 0.00009
NM_001378120.1(MBD5):c.2275G>A (p.Val759Met) rs377604964 0.00009
NM_001378120.1(MBD5):c.4189G>A (p.Ala1397Thr) rs534413662 0.00009
NM_001429.4(EP300):c.1443G>A (p.Pro481=) rs374768898 0.00009
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629 0.00009
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00009
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu) rs760953290 0.00009
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=) rs377023934 0.00009
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=) rs772392148 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_005120.3(MED12):c.2721G>A (p.Leu907=) rs757010467 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_005334.3(HCFC1):c.2589C>T (p.Ser863=) rs375755315 0.00009
NM_005334.3(HCFC1):c.3757C>T (p.Arg1253Cys) rs199554411 0.00009
NM_005334.3(HCFC1):c.5490G>A (p.Leu1830=) rs376294666 0.00009
NM_006516.4(SLC2A1):c.-26G>C rs375001117 0.00009
NM_007327.4(GRIN1):c.1865-13C>T rs201908310 0.00009
NM_013275.6(ANKRD11):c.7324C>T (p.Leu2442=) rs373934412 0.00009
NM_016032.4(ZDHHC9):c.144A>T (p.Thr48=) rs145877196 0.00009
NM_016032.4(ZDHHC9):c.674+9C>T rs376385410 0.00009
NM_018026.4(PACS1):c.2413G>A (p.Ala805Thr) rs184092629 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=) rs201359736 0.00009
NM_080632.3(UPF3B):c.1302+8T>C rs776786838 0.00009
NM_080632.3(UPF3B):c.470-19T>C rs779967826 0.00009
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala) rs142601264 0.00008
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=) rs782633224 0.00008
NM_000834.5(GRIN2B):c.140A>G (p.Glu47Gly) rs199526748 0.00008
NM_001015877.2(PHF6):c.714C>T (p.Ala238=) rs761180935 0.00008
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_001110556.2(FLNA):c.2313G>A (p.Lys771=) rs782741007 0.00008
NM_001110556.2(FLNA):c.2614G>A (p.Ala872Thr) rs185503240 0.00008
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936 0.00008
NM_001110556.2(FLNA):c.3877G>A (p.Val1293Ile) rs782265007 0.00008
NM_001110556.2(FLNA):c.5318C>T (p.Pro1773Leu) rs377576796 0.00008
NM_001111125.3(IQSEC2):c.2297+4C>T rs781794155 0.00008
NM_001172509.2(SATB2):c.306G>A (p.Leu102=) rs201405384 0.00008
NM_001244008.2(KIF1A):c.1596C>T (p.Gly532=) rs754916421 0.00008
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) rs201104498 0.00008
NM_001353921.2(ARHGEF9):c.1433C>T (p.Pro478Leu) rs371605184 0.00008
NM_001353921.2(ARHGEF9):c.582C>T (p.His194=) rs150129110 0.00008
NM_001371727.1(GABRB2):c.1191G>A (p.Thr397=) rs373911261 0.00008
NM_001378120.1(MBD5):c.3677A>C (p.Gln1226Pro) rs761395486 0.00008
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro) rs200499648 0.00008
NM_001429.4(EP300):c.45G>A (p.Arg15=) rs752119517 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_002578.5(PAK3):c.665C>A (p.Pro222Gln) rs778585528 0.00008
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=) rs200087760 0.00008
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro) rs747413033 0.00008
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
NM_005334.3(HCFC1):c.5904C>T (p.Asn1968=) rs782684668 0.00008
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg) rs558739370 0.00008
NM_006772.3(SYNGAP1):c.3364G>A (p.Gly1122Ser) rs755386745 0.00008
NM_007327.4(GRIN1):c.2328C>T (p.Ile776=) rs200088954 0.00008
NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=) rs544199816 0.00008
NM_013275.6(ANKRD11):c.2610C>T (p.Ser870=) rs142560514 0.00008
NM_014271.4(IL1RAPL1):c.550-4A>G rs368301683 0.00008
NM_014795.4(ZEB2):c.73+6A>C rs756924190 0.00008
NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg) rs752770575 0.00008
NM_016032.4(ZDHHC9):c.1033G>A (p.Glu345Lys) rs185917523 0.00008
NM_016032.4(ZDHHC9):c.168-18A>G rs753763200 0.00008
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser) rs775715153 0.00008
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn) rs151273832 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000834.5(GRIN2B):c.2628G>A (p.Ala876=) rs199710029 0.00007
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00007
NM_001110556.2(FLNA):c.2522G>A (p.Arg841Gln) rs201451383 0.00007
NM_001110556.2(FLNA):c.2657-19G>A rs782352062 0.00007
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) rs781844419 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001110556.2(FLNA):c.3801C>T (p.Gly1267=) rs1324902589 0.00007
NM_001110556.2(FLNA):c.4577G>A (p.Gly1526Glu) rs782649462 0.00007
NM_001110556.2(FLNA):c.5190C>T (p.His1730=) rs781793192 0.00007
NM_001110556.2(FLNA):c.6227-10C>T rs782748718 0.00007
NM_001110556.2(FLNA):c.6651G>A (p.Lys2217=) rs782053982 0.00007
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00007
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964 0.00007
NM_001111125.3(IQSEC2):c.214C>T (p.Leu72=) rs782434593 0.00007
NM_001111125.3(IQSEC2):c.2157C>G (p.Asp719Glu) rs142545002 0.00007
NM_001111125.3(IQSEC2):c.2262G>A (p.Arg754=) rs1408670208 0.00007
NM_001111125.3(IQSEC2):c.2816G>A (p.Arg939His) rs782727618 0.00007
NM_001111125.3(IQSEC2):c.3015+9A>G rs781956154 0.00007
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser) rs782101524 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001172509.2(SATB2):c.1776G>A (p.Glu592=) rs375553887 0.00007
NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His) rs756912340 0.00007
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser) rs147973077 0.00007
NM_001353921.2(ARHGEF9):c.447C>T (p.Asp149=) rs782313473 0.00007
NM_001371928.1(AHDC1):c.4178G>A (p.Gly1393Asp) rs148277570 0.00007
NM_001378120.1(MBD5):c.4294G>A (p.Gly1432Arg) rs201334086 0.00007
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=) rs371544356 0.00007
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.3111G>A (p.Thr1037=) rs185658730 0.00007
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 0.00007
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028 0.00007
NM_005334.3(HCFC1):c.1085-16C>G rs201181843 0.00007
NM_005334.3(HCFC1):c.1398G>A (p.Thr466=) rs782754046 0.00007
NM_005334.3(HCFC1):c.2029-9C>G rs374910917 0.00007
NM_005334.3(HCFC1):c.2352G>A (p.Thr784=) rs782058954 0.00007
NM_005334.3(HCFC1):c.380C>T (p.Thr127Met) rs183246703 0.00007
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006950.3(SYN1):c.981-19C>T rs375349005 0.00007
NM_007327.4(GRIN1):c.1131G>A (p.Arg377=) rs778284712 0.00007
NM_013275.6(ANKRD11):c.4382A>G (p.Lys1461Arg) rs769926682 0.00007
NM_014795.4(ZEB2):c.297C>T (p.Asn99=) rs147603619 0.00007
NM_014795.4(ZEB2):c.3285G>A (p.Ala1095=) rs201630448 0.00007
NM_018026.4(PACS1):c.1993+18C>T rs543655686 0.00007
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00007
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=) rs766767923 0.00007
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.12G>A (p.Glu4=) rs782765957 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn) rs782253706 0.00006
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074 0.00006
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn) rs782512381 0.00006
NM_000489.6(ATRX):c.370+8G>A rs782746673 0.00006
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=) rs782638271 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.485-18G>A rs782461396 0.00006
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=) rs202114901 0.00006
NM_000834.5(GRIN2B):c.1768G>A (p.Ala590Thr) rs145021339 0.00006
NM_000834.5(GRIN2B):c.270T>C (p.Ser90=) rs540429850 0.00006
NM_000834.5(GRIN2B):c.3047G>A (p.Arg1016Lys) rs141109968 0.00006
NM_000834.5(GRIN2B):c.3797C>T (p.Pro1266Leu) rs201947553 0.00006
NM_000834.5(GRIN2B):c.3818C>A (p.Thr1273Lys) rs531747728 0.00006
NM_000834.5(GRIN2B):c.4270C>T (p.Leu1424Phe) rs748128078 0.00006
NM_001110556.2(FLNA):c.1030G>A (p.Val344Ile) rs782007408 0.00006
NM_001110556.2(FLNA):c.13C>T (p.His5Tyr) rs781866647 0.00006
NM_001110556.2(FLNA):c.2220G>A (p.Pro740=) rs202055800 0.00006
NM_001110556.2(FLNA):c.2451C>T (p.Pro817=) rs782192587 0.00006
NM_001110556.2(FLNA):c.2843A>G (p.Asn948Ser) rs372718245 0.00006
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518 0.00006
NM_001110556.2(FLNA):c.5492G>A (p.Arg1831Gln) rs781882457 0.00006
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300 0.00006
NM_001110556.2(FLNA):c.6230A>G (p.Tyr2077Cys) rs781860863 0.00006
NM_001110556.2(FLNA):c.6303G>A (p.Thr2101=) rs372978023 0.00006
NM_001110556.2(FLNA):c.66C>T (p.Asp22=) rs782358007 0.00006
NM_001110556.2(FLNA):c.6936C>T (p.Asn2312=) rs201203814 0.00006
NM_001110556.2(FLNA):c.768T>C (p.Ser256=) rs782357419 0.00006
NM_001110556.2(FLNA):c.7927C>T (p.Arg2643Cys) rs200836471 0.00006
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.414-20C>G rs368684221 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
NM_001111125.3(IQSEC2):c.2582+11C>A rs782764289 0.00006
NM_001111125.3(IQSEC2):c.3015+16G>A rs184771608 0.00006
NM_001111125.3(IQSEC2):c.3895C>T (p.Pro1299Ser) rs782355048 0.00006
NM_001244008.2(KIF1A):c.2078C>T (p.Pro693Leu) rs756842462 0.00006
NM_001244008.2(KIF1A):c.3213A>C (p.Pro1071=) rs201232478 0.00006
NM_001244008.2(KIF1A):c.4601C>T (p.Ser1534Leu) rs371486580 0.00006
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00006
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly) rs143498500 0.00006
NM_001347721.2(DYRK1A):c.925-8T>C rs199804785 0.00006
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His) rs371217448 0.00006
NM_001371727.1(GABRB2):c.1190C>T (p.Thr397Met) rs375083192 0.00006
NM_001371727.1(GABRB2):c.542-8T>C rs546965842 0.00006
NM_001371928.1(AHDC1):c.3367G>A (p.Ala1123Thr) rs534403874 0.00006
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_001378120.1(MBD5):c.3919G>A (p.Gly1307Ser) rs150972614 0.00006
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179 0.00006
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu) rs749702423 0.00006
NM_001429.4(EP300):c.3750C>T (p.Cys1250=) rs747187417 0.00006
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204 0.00006
NM_001429.4(EP300):c.7114A>G (p.Met2372Val) rs768061933 0.00006
NM_003072.5(SMARCA4):c.761-5T>C rs543702763 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=) rs539366777 0.00006
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622 0.00006
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_005249.5(FOXG1):c.376G>A (p.Gly126Ser) rs796052455 0.00006
NM_005334.3(HCFC1):c.1803+13C>T rs368179780 0.00006
NM_005334.3(HCFC1):c.3504C>G (p.Thr1168=) rs782207714 0.00006
NM_005334.3(HCFC1):c.5949C>T (p.Ile1983=) rs372071273 0.00006
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_006516.4(SLC2A1):c.19-12G>A rs372344816 0.00006
NM_006516.4(SLC2A1):c.19-5C>T rs376653618 0.00006
NM_006772.3(SYNGAP1):c.1532-5C>G rs928381854 0.00006
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00006
NM_006772.3(SYNGAP1):c.3583-7C>T rs748161838 0.00006
NM_007327.4(GRIN1):c.1198-7C>T rs202163066 0.00006
NM_007327.4(GRIN1):c.2333+9C>A rs201316377 0.00006
NM_013275.6(ANKRD11):c.-18C>T rs373447058 0.00006
NM_013275.6(ANKRD11):c.192G>A (p.Ala64=) rs200665093 0.00006
NM_013275.6(ANKRD11):c.477T>C (p.Asp159=) rs201813034 0.00006
NM_013275.6(ANKRD11):c.5586C>T (p.Val1862=) rs772818159 0.00006
NM_014271.4(IL1RAPL1):c.1443C>T (p.Tyr481=) rs777536426 0.00006
NM_014271.4(IL1RAPL1):c.726C>A (p.Pro242=) rs748193306 0.00006
NM_014795.4(ZEB2):c.1221C>T (p.His407=) rs144613207 0.00006
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=) rs201567433 0.00006
NM_018026.4(PACS1):c.1233C>T (p.Ser411=) rs201671985 0.00006
NM_018026.4(PACS1):c.2514C>T (p.Gly838=) rs199684328 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_153252.5(BRWD3):c.*5741G>T rs139358289 0.00006
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala) rs781836912 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=) rs782097254 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 0.00005
NM_000489.6(ATRX):c.6018T>A (p.Val2006=) rs781802180 0.00005
NM_000489.6(ATRX):c.6110+15A>G rs1309299805 0.00005
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met) rs192057045 0.00005
NM_000834.5(GRIN2B):c.3473G>A (p.Arg1158Gln) rs143955920 0.00005
NM_000834.5(GRIN2B):c.412-20T>C rs779719544 0.00005
NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) rs139730174 0.00005
NM_001081550.2(THOC2):c.2481+42A>G rs780461608 0.00005
NM_001110556.2(FLNA):c.1806C>T (p.Ile602=) rs782543203 0.00005
NM_001110556.2(FLNA):c.1807G>A (p.Gly603Arg) rs200116438 0.00005
NM_001110556.2(FLNA):c.1850C>T (p.Ser617Leu) rs782193139 0.00005
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695 0.00005
NM_001110556.2(FLNA):c.4551G>C (p.Gly1517=) rs370476531 0.00005
NM_001110556.2(FLNA):c.4893G>A (p.Pro1631=) rs1984380 0.00005
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643 0.00005
NM_001110556.2(FLNA):c.6048G>A (p.Thr2016=) rs782745205 0.00005
NM_001110556.2(FLNA):c.6964G>A (p.Val2322Met) rs782084497 0.00005
NM_001110556.2(FLNA):c.6991G>A (p.Asp2331Asn) rs371689052 0.00005
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn) rs782739586 0.00005
NM_001110556.2(FLNA):c.968C>T (p.Pro323Leu) rs371830740 0.00005
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00005
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) rs62915962 0.00005
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_001111125.3(IQSEC2):c.1449G>A (p.Pro483=) rs200629644 0.00005
NM_001111125.3(IQSEC2):c.1496G>T (p.Arg499Leu) rs782243346 0.00005
NM_001111125.3(IQSEC2):c.1625G>A (p.Arg542Gln) rs782420335 0.00005
NM_001111125.3(IQSEC2):c.2052C>T (p.Cys684=) rs782132072 0.00005
NM_001111125.3(IQSEC2):c.3115+11T>G rs782704136 0.00005
NM_001111125.3(IQSEC2):c.569C>T (p.Ala190Val) rs1003745171 0.00005
NM_001172509.2(SATB2):c.1173+4C>A rs376920785 0.00005
NM_001172509.2(SATB2):c.1828A>G (p.Ser610Gly) rs1048433974 0.00005
NM_001172509.2(SATB2):c.1843C>T (p.Pro615Ser) rs1394335364 0.00005
NM_001184880.2(PCDH19):c.888C>T (p.Gly296=) rs368963363 0.00005
NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu) rs779578515 0.00005
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn) rs199574770 0.00005
NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln) rs760970824 0.00005
NM_001353921.2(ARHGEF9):c.1183A>G (p.Met395Val) rs781988728 0.00005
NM_001353921.2(ARHGEF9):c.1402G>T (p.Ala468Ser) rs781870482 0.00005
NM_001353921.2(ARHGEF9):c.729T>C (p.Asp243=) rs781930227 0.00005
NM_001353921.2(ARHGEF9):c.747A>C (p.Pro249=) rs369716500 0.00005
NM_001371727.1(GABRB2):c.1222A>C (p.Thr408Pro) rs200591388 0.00005
NM_001371727.1(GABRB2):c.1358G>A (p.Arg453Gln) rs371728438 0.00005
NM_001371928.1(AHDC1):c.1146C>T (p.Tyr382=) rs200228240 0.00005
NM_001378120.1(MBD5):c.2314A>C (p.Asn772His) rs200151142 0.00005
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00005
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273 0.00005
NM_002578.5(PAK3):c.-15T>C rs758607736 0.00005
NM_002578.5(PAK3):c.9C>T (p.Asp3=) rs745645606 0.00005
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=) rs751166438 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004380.3(CREBBP):c.414C>T (p.Ala138=) rs542552676 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004586.3(RPS6KA3):c.1242C>T (p.Asn414=) rs142680221 0.00005
NM_004586.3(RPS6KA3):c.1246A>G (p.Ile416Val) rs148050184 0.00005
NM_005120.3(MED12):c.2685+17G>T rs767584131 0.00005
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680 0.00005
NM_005120.3(MED12):c.5109C>T (p.Gly1703=) rs781134410 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.6003G>A (p.Gln2001=) rs1226474526 0.00005
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 0.00005
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603 0.00005
NM_005120.3(MED12):c.906A>G (p.Thr302=) rs1458066906 0.00005
NM_005334.3(HCFC1):c.1407C>T (p.Gly469=) rs200268397 0.00005
NM_005334.3(HCFC1):c.1560C>T (p.Pro520=) rs201117046 0.00005
NM_005334.3(HCFC1):c.1606-13G>A rs782300809 0.00005
NM_005334.3(HCFC1):c.1716G>A (p.Ala572=) rs371233332 0.00005
NM_005334.3(HCFC1):c.1804-18C>T rs1057522797 0.00005
NM_005334.3(HCFC1):c.2134-20C>A rs368718262 0.00005
NM_005334.3(HCFC1):c.3960G>A (p.Pro1320=) rs782045987 0.00005
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) rs782413424 0.00005
NM_005334.3(HCFC1):c.4296G>A (p.Thr1432=) rs781804858 0.00005
NM_005334.3(HCFC1):c.722C>T (p.Thr241Met) rs782354655 0.00005
NM_005765.3(ATP6AP2):c.357G>A (p.Glu119=) rs138952430 0.00005
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser) rs187631645 0.00005
NM_006516.4(SLC2A1):c.276-9C>T rs529579952 0.00005
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_007327.4(GRIN1):c.570+13G>A rs200081727 0.00005
NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg) rs1003478010 0.00005
NM_013275.6(ANKRD11):c.824A>G (p.Asn275Ser) rs138723232 0.00005
NM_013275.6(ANKRD11):c.868A>G (p.Thr290Ala) rs776494318 0.00005
NM_014271.4(IL1RAPL1):c.-25+14A>C rs146138116 0.00005
NM_014795.4(ZEB2):c.375G>A (p.Thr125=) rs138389836 0.00005
NM_015338.6(ASXL1):c.2802T>C (p.Ala934=) rs571165637 0.00005
NM_018026.4(PACS1):c.1626+20A>G rs200284391 0.00005
NM_018026.4(PACS1):c.2250+12C>T rs760895616 0.00005
NM_018026.4(PACS1):c.563A>G (p.Asn188Ser) rs200950761 0.00005
NM_031206.7(LAS1L):c.1269C>T (p.Thr423=) rs188766357 0.00005
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482 0.00005
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met) rs199780997 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1448A>C (p.Gln483Pro) rs781820428 0.00004
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys) rs782446684 0.00004
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly) rs781804632 0.00004
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr) rs782171296 0.00004
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly) rs368980616 0.00004
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00004
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg) rs782593341 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn) rs373581602 0.00004
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu) rs1557138704 0.00004
NM_000489.6(ATRX):c.2922C>T (p.Ser974=) rs1476227727 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=) rs782472957 0.00004
NM_000489.6(ATRX):c.3737-6C>T rs373071937 0.00004
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu) rs782302000 0.00004
NM_000489.6(ATRX):c.4214+17T>C rs782525895 0.00004
NM_000489.6(ATRX):c.4557+15T>C rs782672265 0.00004
NM_000489.6(ATRX):c.5272+16T>C rs377679337 0.00004
NM_000489.6(ATRX):c.5448+20T>G rs782183661 0.00004
NM_000489.6(ATRX):c.5567-18C>T rs782747817 0.00004
NM_000489.6(ATRX):c.5956+16G>A rs782016890 0.00004
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=) rs782527659 0.00004
NM_000834.5(GRIN2B):c.2648T>C (p.Val883Ala) rs770464893 0.00004
NM_000834.5(GRIN2B):c.275G>A (p.Arg92Gln) rs201966022 0.00004
NM_000834.5(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225 0.00004
NM_000834.5(GRIN2B):c.4041C>A (p.Ser1347Arg) rs769147604 0.00004
NM_001110556.2(FLNA):c.1092C>T (p.His364=) rs782530005 0.00004
NM_001110556.2(FLNA):c.1327C>T (p.Arg443Cys) rs782673341 0.00004
NM_001110556.2(FLNA):c.1451G>A (p.Arg484Gln) rs782371735 0.00004
NM_001110556.2(FLNA):c.1749C>T (p.Gly583=) rs782155641 0.00004
NM_001110556.2(FLNA):c.1854G>C (p.Gln618His) rs782495413 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001110556.2(FLNA):c.2023-6C>T rs372021340 0.00004
NM_001110556.2(FLNA):c.2479A>G (p.Ile827Val) rs371361696 0.00004
NM_001110556.2(FLNA):c.29A>G (p.Gln10Arg) rs781988041 0.00004
NM_001110556.2(FLNA):c.3036G>A (p.Ser1012=) rs373908435 0.00004
NM_001110556.2(FLNA):c.3330G>A (p.Ala1110=) rs781917512 0.00004
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283 0.00004
NM_001110556.2(FLNA):c.4981G>A (p.Gly1661Ser) rs1402204338 0.00004
NM_001110556.2(FLNA):c.5218-4G>A rs370196495 0.00004
NM_001110556.2(FLNA):c.5870C>G (p.Ser1957Cys) rs781962741 0.00004
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys) rs782779958 0.00004
NM_001110556.2(FLNA):c.6314C>G (p.Thr2105Ser) rs200200745 0.00004
NM_001110556.2(FLNA):c.63C>T (p.Val21=) rs782306951 0.00004
NM_001110556.2(FLNA):c.720+9G>A rs781887001 0.00004
NM_001110792.2(MECP2):c.1021G>A (p.Gly341Ser) rs201871183 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140 0.00004
NM_001111125.3(IQSEC2):c.1401+7A>G rs782164403 0.00004
NM_001111125.3(IQSEC2):c.18G>A (p.Gly6=) rs781828922 0.00004
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206 0.00004
NM_001111125.3(IQSEC2):c.2451C>T (p.Asp817=) rs782668223 0.00004
NM_001111125.3(IQSEC2):c.2937C>T (p.Tyr979=) rs191305900 0.00004
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001111125.3(IQSEC2):c.3502-19C>T rs782166410 0.00004
NM_001127178.3(PIGG):c.361-8G>T rs575862015 0.00004
NM_001127178.3(PIGG):c.883G>T (p.Ala295Ser) rs201853289 0.00004
NM_001172509.2(SATB2):c.1140T>A (p.Ala380=) rs771044415 0.00004
NM_001172509.2(SATB2):c.169+11G>T rs779817342 0.00004
NM_001244008.2(KIF1A):c.4520G>A (p.Arg1507Gln) rs750045020 0.00004
NM_001244008.2(KIF1A):c.4626G>A (p.Leu1542=) rs759679465 0.00004
NM_001244008.2(KIF1A):c.850G>A (p.Ala284Thr) rs756136593 0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala) rs759183785 0.00004
NM_001353921.2(ARHGEF9):c.555C>T (p.Ser185=) rs782520132 0.00004
NM_001371928.1(AHDC1):c.3630G>T (p.Glu1210Asp) rs371337420 0.00004
NM_001378120.1(MBD5):c.2399G>A (p.Gly800Asp) rs201668347 0.00004
NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile) rs199626531 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569 0.00004
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln) rs201798443 0.00004
NM_003072.5(SMARCA4):c.1209G>A (p.Glu403=) rs200159174 0.00004
NM_003072.5(SMARCA4):c.2199C>T (p.Ala733=) rs538629432 0.00004
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=) rs183060137 0.00004
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu) rs143180774 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004586.3(RPS6KA3):c.846-6A>G rs375177835 0.00004
NM_005120.3(MED12):c.1348+18G>A rs776024292 0.00004
NM_005120.3(MED12):c.1975-5C>T rs200891932 0.00004
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00004
NM_005120.3(MED12):c.4863+15C>T rs778076528 0.00004
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369 0.00004
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995 0.00004
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile) rs762612521 0.00004
NM_005249.5(FOXG1):c.251C>A (p.Pro84His) rs866815665 0.00004
NM_005249.5(FOXG1):c.455G>C (p.Gly152Ala) rs796052460 0.00004
NM_005334.3(HCFC1):c.3126G>A (p.Gln1042=) rs782501125 0.00004
NM_005334.3(HCFC1):c.4117G>A (p.Val1373Met) rs782410390 0.00004
NM_005334.3(HCFC1):c.5751C>T (p.Ser1917=) rs782064674 0.00004
NM_005334.3(HCFC1):c.5808C>T (p.Gly1936=) rs782369645 0.00004
NM_005334.3(HCFC1):c.6004+14G>A rs371228352 0.00004
NM_005359.6(SMAD4):c.-401C>T rs555375675 0.00004
NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=) rs753683399 0.00004
NM_006516.4(SLC2A1):c.276-19C>T rs74945664 0.00004
NM_006772.3(SYNGAP1):c.1198G>C (p.Val400Leu) rs201020155 0.00004
NM_006772.3(SYNGAP1):c.1604G>C (p.Ser535Thr) rs750770222 0.00004
NM_006772.3(SYNGAP1):c.2409A>G (p.Lys803=) rs770750501 0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396 0.00004
NM_006772.3(SYNGAP1):c.773G>A (p.Arg258His) rs538281267 0.00004
NM_007327.4(GRIN1):c.1113C>T (p.His371=) rs150508714 0.00004
NM_007327.4(GRIN1):c.246C>T (p.Leu82=) rs192006771 0.00004
NM_007327.4(GRIN1):c.507C>T (p.Asp169=) rs199720207 0.00004
NM_007327.4(GRIN1):c.570+12C>T rs201869639 0.00004
NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=) rs202126162 0.00004
NM_013275.6(ANKRD11):c.6434C>T (p.Thr2145Ile) rs761862402 0.00004
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu) rs1283976400 0.00004
NM_013275.6(ANKRD11):c.651G>A (p.Ala217=) rs768461388 0.00004
NM_013275.6(ANKRD11):c.6781G>A (p.Glu2261Lys) rs770262960 0.00004
NM_013275.6(ANKRD11):c.745-20C>T rs371708631 0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met) rs727504227 0.00004
NM_014795.4(ZEB2):c.395A>G (p.Asn132Ser) rs369622877 0.00004
NM_014795.4(ZEB2):c.768C>T (p.Leu256=) rs370751674 0.00004
NM_016032.4(ZDHHC9):c.369G>A (p.Pro123=) rs763192908 0.00004
NM_016032.4(ZDHHC9):c.674+20T>C rs45555436 0.00004
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_031206.7(LAS1L):c.1185G>A (p.Thr395=) rs373278066 0.00004
NM_080632.3(UPF3B):c.807+19T>C rs750984351 0.00004
NM_139058.3(ARX):c.99G>A (p.Leu33=) rs756804509 0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile) rs781797239 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.227C>T (p.Ser76Leu) rs782664370 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn) rs782629714 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.3888A>G (p.Pro1296=) rs139540415 0.00003
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly) rs782464685 0.00003
NM_000489.6(ATRX):c.4557+19C>T rs781857296 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000489.6(ATRX):c.5786+20G>A rs782150691 0.00003
NM_000489.6(ATRX):c.595-17C>G rs782473887 0.00003
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=) rs782159753 0.00003
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=) rs782078102 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 0.00003
NM_000834.5(GRIN2B):c.2845T>C (p.Tyr949His) rs201982602 0.00003
NM_000834.5(GRIN2B):c.2861G>A (p.Cys954Tyr) rs376328340 0.00003
NM_000834.5(GRIN2B):c.3837T>G (p.Thr1279=) rs1806200 0.00003
NM_000834.5(GRIN2B):c.4107C>T (p.Gly1369=) rs201732760 0.00003
NM_000834.5(GRIN2B):c.4321C>T (p.Arg1441Cys) rs773648473 0.00003
NM_001032382.2(PQBP1):c.*3C>T rs781944808 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.1110C>T (p.Phe370=) rs886044869 0.00003
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=) rs782598234 0.00003
NM_001110556.2(FLNA):c.1249G>A (p.Glu417Lys) rs367639317 0.00003
NM_001110556.2(FLNA):c.1291G>C (p.Glu431Gln) rs781915319 0.00003
NM_001110556.2(FLNA):c.1386C>T (p.Gly462=) rs781977506 0.00003
NM_001110556.2(FLNA):c.1542G>C (p.Glu514Asp) rs782765195 0.00003
NM_001110556.2(FLNA):c.1693C>T (p.Pro565Ser) rs782580317 0.00003
NM_001110556.2(FLNA):c.1713C>T (p.Gly571=) rs782122510 0.00003
NM_001110556.2(FLNA):c.1798G>C (p.Glu600Gln) rs781861830 0.00003
NM_001110556.2(FLNA):c.2077G>A (p.Ala693Thr) rs782158357 0.00003
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919 0.00003
NM_001110556.2(FLNA):c.2735C>T (p.Ser912Leu) rs782140888 0.00003
NM_001110556.2(FLNA):c.2925G>C (p.Lys975Asn) rs375495397 0.00003
NM_001110556.2(FLNA):c.2993C>T (p.Ala998Val) rs782099443 0.00003
NM_001110556.2(FLNA):c.3107G>A (p.Arg1036His) rs782758177 0.00003
NM_001110556.2(FLNA):c.3173C>T (p.Pro1058Leu) rs782614645 0.00003
NM_001110556.2(FLNA):c.3242G>A (p.Ser1081Asn) rs782561908 0.00003
NM_001110556.2(FLNA):c.3309G>A (p.Thr1103=) rs782374592 0.00003
NM_001110556.2(FLNA):c.3367T>G (p.Ser1123Ala) rs368441729 0.00003
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395 0.00003
NM_001110556.2(FLNA):c.3935G>A (p.Arg1312His) rs377505188 0.00003
NM_001110556.2(FLNA):c.3947T>C (p.Met1316Thr) rs782610314 0.00003
NM_001110556.2(FLNA):c.3985C>T (p.His1329Tyr) rs782746289 0.00003
NM_001110556.2(FLNA):c.4260C>T (p.Gly1420=) rs782653215 0.00003
NM_001110556.2(FLNA):c.4499T>C (p.Val1500Ala) rs781972123 0.00003
NM_001110556.2(FLNA):c.4579G>A (p.Asp1527Asn) rs782537273 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.4786A>G (p.Ile1596Val) rs781870374 0.00003
NM_001110556.2(FLNA):c.5059A>G (p.Thr1687Ala) rs782469665 0.00003
NM_001110556.2(FLNA):c.5139G>A (p.Thr1713=) rs782460018 0.00003
NM_001110556.2(FLNA):c.5426G>A (p.Arg1809Gln) rs782134110 0.00003
NM_001110556.2(FLNA):c.5587G>A (p.Val1863Ile) rs781809353 0.00003
NM_001110556.2(FLNA):c.5827G>A (p.Val1943Ile) rs373682131 0.00003
NM_001110556.2(FLNA):c.5958T>C (p.Thr1986=) rs782787843 0.00003
NM_001110556.2(FLNA):c.5977C>T (p.Arg1993Trp) rs371616686 0.00003
NM_001110556.2(FLNA):c.6001C>T (p.Arg2001Trp) rs782160183 0.00003
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=) rs782221205 0.00003
NM_001110556.2(FLNA):c.6380-17G>A rs200764111 0.00003
NM_001110556.2(FLNA):c.6446G>A (p.Arg2149Gln) rs201932105 0.00003
NM_001110556.2(FLNA):c.6466G>A (p.Val2156Ile) rs367655833 0.00003
NM_001110556.2(FLNA):c.6602G>A (p.Arg2201His) rs368547421 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110556.2(FLNA):c.6871G>A (p.Gly2291Ser) rs797044739 0.00003
NM_001110556.2(FLNA):c.6997C>T (p.Arg2333Cys) rs781984348 0.00003
NM_001110556.2(FLNA):c.7350C>T (p.Phe2450=) rs782225826 0.00003
NM_001110556.2(FLNA):c.7553-10T>C rs782156724 0.00003
NM_001110556.2(FLNA):c.759C>T (p.Asp253=) rs782701643 0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) rs782805738 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001111125.3(IQSEC2):c.1176C>T (p.Phe392=) rs374511542 0.00003
NM_001111125.3(IQSEC2):c.1866G>A (p.Glu622=) rs782547252 0.00003
NM_001111125.3(IQSEC2):c.248C>T (p.Pro83Leu) rs1057518272 0.00003
NM_001111125.3(IQSEC2):c.2847C>T (p.Ser949=) rs377545286 0.00003
NM_001111125.3(IQSEC2):c.3159G>A (p.Gly1053=) rs199643273 0.00003
NM_001111125.3(IQSEC2):c.3592G>A (p.Val1198Ile) rs1193003776 0.00003
NM_001111125.3(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629 0.00003
NM_001172509.2(SATB2):c.1439A>G (p.Asn480Ser) rs201864116 0.00003
NM_001172509.2(SATB2):c.700+6C>T rs755400212 0.00003
NM_001244008.2(KIF1A):c.4977G>T (p.Glu1659Asp) rs992259915 0.00003
NM_001244008.2(KIF1A):c.4984C>T (p.Arg1662Cys) rs372226807 0.00003
NM_001347721.2(DYRK1A):c.1247A>C (p.Asn416Thr) rs777063595 0.00003
NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln) rs761460441 0.00003
NM_001347721.2(DYRK1A):c.638-3C>T rs779620187 0.00003
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn) rs758888181 0.00003
NM_001353921.2(ARHGEF9):c.564A>T (p.Gly188=) rs782187939 0.00003
NM_001371727.1(GABRB2):c.1118G>A (p.Arg373Gln) rs202183786 0.00003
NM_001378120.1(MBD5):c.2521G>A (p.Gly841Ser) rs752445724 0.00003
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345 0.00003
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001429.4(EP300):c.2744G>A (p.Arg915His) rs748820220 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_003070.5(SMARCA2):c.2907C>T (p.Asp969=) rs761701446 0.00003
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala) rs3793510 0.00003
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=) rs547998868 0.00003
NM_003072.5(SMARCA4):c.2974-4G>A rs766593089 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=) rs138353979 0.00003
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu) rs766086544 0.00003
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser) rs779479811 0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004586.3(RPS6KA3):c.1212A>G (p.Val404=) rs773807871 0.00003
NM_004586.3(RPS6KA3):c.987G>A (p.Thr329=) rs750203223 0.00003
NM_005120.3(MED12):c.1794G>A (p.Leu598=) rs776762599 0.00003
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2484T>C (p.Asp828=) rs781733323 0.00003
NM_005120.3(MED12):c.2748C>A (p.Gly916=) rs768686458 0.00003
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00003
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser) rs1195178209 0.00003
NM_005334.3(HCFC1):c.4026G>A (p.Thr1342=) rs201491358 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=) rs371874117 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_005334.3(HCFC1):c.5379+20G>A rs371712410 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_006772.3(SYNGAP1):c.2381C>T (p.Pro794Leu) rs375837477 0.00003
NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met) rs751157497 0.00003
NM_006772.3(SYNGAP1):c.3355G>A (p.Gly1119Arg) rs927915520 0.00003
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969 0.00003
NM_007327.4(GRIN1):c.614C>T (p.Thr205Met) rs201592328 0.00003
NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met) rs777070083 0.00003
NM_013275.6(ANKRD11):c.4533C>T (p.Pro1511=) rs769180959 0.00003
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr) rs777123332 0.00003
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile) rs199785661 0.00003
NM_014795.4(ZEB2):c.1533C>T (p.Val511=) rs587780994 0.00003
NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro) rs61750440 0.00003
NM_014795.4(ZEB2):c.1836G>A (p.Ala612=) rs754916469 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_014795.4(ZEB2):c.2541C>T (p.Asn847=) rs759097498 0.00003
NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu) rs373126831 0.00003
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) rs772452614 0.00003
NM_016032.4(ZDHHC9):c.1014G>A (p.Pro338=) rs774643586 0.00003
NM_016032.4(ZDHHC9):c.1032C>T (p.Pro344=) rs755391148 0.00003
NM_016032.4(ZDHHC9):c.167+9C>T rs746318308 0.00003
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_018026.4(PACS1):c.2549A>G (p.Lys850Arg) rs772469681 0.00003
NM_031206.7(LAS1L):c.707C>T (p.Thr236Met) rs145338657 0.00003
NM_080632.3(UPF3B):c.105G>A (p.Lys35=) rs143487370 0.00003
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) rs201833722 0.00003
NM_080632.3(UPF3B):c.883T>C (p.Leu295=) rs755087452 0.00003
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_000489.6(ATRX):c.114T>G (p.Leu38=) rs201353033 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln) rs782128777 0.00002
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp) rs886044778 0.00002
NM_000489.6(ATRX):c.1666G>A (p.Val556Met) rs782001042 0.00002
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr) rs781967738 0.00002
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala) rs960922907 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu) rs782016225 0.00002
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=) rs782427169 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser) rs201588422 0.00002
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser) rs782293614 0.00002
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser) rs1440336962 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.4699+9C>T rs782140505 0.00002
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=) rs145036475 0.00002
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=) rs782211965 0.00002
NM_000489.6(ATRX):c.5493C>T (p.His1831=) rs782508028 0.00002
NM_000489.6(ATRX):c.6327-18C>T rs372246179 0.00002
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=) rs139457986 0.00002
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=) rs3027525 0.00002
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr) rs147341551 0.00002
NM_000489.6(ATRX):c.7200+15G>A rs372742045 0.00002
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr) rs782388992 0.00002
NM_000834.5(GRIN2B):c.2172-9C>G rs1555103671 0.00002
NM_000834.5(GRIN2B):c.3338C>T (p.Pro1113Leu) rs766946947 0.00002
NM_000834.5(GRIN2B):c.3499G>A (p.Val1167Ile) rs1042339 0.00002
NM_000834.5(GRIN2B):c.3514C>T (p.Pro1172Ser) rs757924519 0.00002
NM_000834.5(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262 0.00002
NM_000834.5(GRIN2B):c.52G>A (p.Val18Ile) rs201094029 0.00002
NM_000834.5(GRIN2B):c.598G>C (p.Glu200Gln) rs1196117849 0.00002
NM_001110556.2(FLNA):c.1180A>G (p.Ser394Gly) rs371936356 0.00002
NM_001110556.2(FLNA):c.1224G>A (p.Thr408=) rs1221446175 0.00002
NM_001110556.2(FLNA):c.1309C>T (p.Arg437Trp) rs863223644 0.00002
NM_001110556.2(FLNA):c.1528G>A (p.Ala510Thr) rs782698277 0.00002
NM_001110556.2(FLNA):c.1603G>A (p.Asp535Asn) rs782321294 0.00002
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val) rs1443563081 0.00002
NM_001110556.2(FLNA):c.1767C>T (p.Gly589=) rs371909600 0.00002
NM_001110556.2(FLNA):c.1824G>A (p.Thr608=) rs782114616 0.00002
NM_001110556.2(FLNA):c.1938C>T (p.His646=) rs369037499 0.00002
NM_001110556.2(FLNA):c.1954G>A (p.Glu652Lys) rs782043699 0.00002
NM_001110556.2(FLNA):c.2032C>T (p.Arg678Cys) rs1380007907 0.00002
NM_001110556.2(FLNA):c.2065G>A (p.Val689Ile) rs782116160 0.00002
NM_001110556.2(FLNA):c.2219C>T (p.Pro740Leu) rs782278974 0.00002
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00002
NM_001110556.2(FLNA):c.2661C>T (p.Val887=) rs781794634 0.00002
NM_001110556.2(FLNA):c.2662G>A (p.Glu888Lys) rs782580568 0.00002
NM_001110556.2(FLNA):c.2953G>A (p.Val985Ile) rs781884864 0.00002
NM_001110556.2(FLNA):c.3251C>T (p.Ser1084Phe) rs1557177797 0.00002
NM_001110556.2(FLNA):c.3369C>T (p.Ser1123=) rs782475258 0.00002
NM_001110556.2(FLNA):c.3546A>G (p.Gln1182=) rs782119340 0.00002
NM_001110556.2(FLNA):c.3755C>T (p.Ala1252Val) rs782538253 0.00002
NM_001110556.2(FLNA):c.3940G>A (p.Asp1314Asn) rs1557177584 0.00002
NM_001110556.2(FLNA):c.4044C>T (p.Pro1348=) rs782525345 0.00002
NM_001110556.2(FLNA):c.4051G>A (p.Glu1351Lys) rs782269355 0.00002
NM_001110556.2(FLNA):c.4158C>T (p.Gly1386=) rs781868130 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001110556.2(FLNA):c.4903C>T (p.Arg1635Cys) rs1400230946 0.00002
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met) rs782352193 0.00002
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127 0.00002
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val) rs12395634 0.00002
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=) rs782253233 0.00002
NM_001110556.2(FLNA):c.5763C>T (p.Ser1921=) rs781929535 0.00002
NM_001110556.2(FLNA):c.5965C>T (p.Pro1989Ser) rs1557176194 0.00002
NM_001110556.2(FLNA):c.6002G>A (p.Arg2001Gln) rs1483960506 0.00002
NM_001110556.2(FLNA):c.6125C>T (p.Ser2042Leu) rs782666380 0.00002
NM_001110556.2(FLNA):c.6503-9A>G rs781919390 0.00002
NM_001110556.2(FLNA):c.652G>A (p.Ala218Thr) rs782580503 0.00002
NM_001110556.2(FLNA):c.6908-14C>G rs782486602 0.00002
NM_001110556.2(FLNA):c.7322G>A (p.Gly2441Asp) rs1281469151 0.00002
NM_001110556.2(FLNA):c.7558C>T (p.Arg2520Cys) rs782244918 0.00002
NM_001110556.2(FLNA):c.7559G>A (p.Arg2520His) rs781959191 0.00002
NM_001110556.2(FLNA):c.7650G>A (p.Pro2550=) rs781905890 0.00002
NM_001110556.2(FLNA):c.7714G>A (p.Val2572Ile) rs782291033 0.00002
NM_001110556.2(FLNA):c.7796C>A (p.Thr2599Asn) rs782593788 0.00002
NM_001110556.2(FLNA):c.7862A>G (p.Lys2621Arg) rs782302420 0.00002
NM_001110556.2(FLNA):c.7928G>A (p.Arg2643His) rs782641074 0.00002
NM_001110792.2(MECP2):c.1117C>G (p.Pro373Ala) rs61752373 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001111125.3(IQSEC2):c.1498G>C (p.Glu500Gln) rs202076203 0.00002
NM_001111125.3(IQSEC2):c.2088C>T (p.Asn696=) rs1405711349 0.00002
NM_001111125.3(IQSEC2):c.2174C>T (p.Pro725Leu) rs782745696 0.00002
NM_001111125.3(IQSEC2):c.2175G>A (p.Pro725=) rs781979737 0.00002
NM_001111125.3(IQSEC2):c.2333G>A (p.Arg778Gln) rs192071369 0.00002
NM_001111125.3(IQSEC2):c.2334G>A (p.Arg778=) rs782564038 0.00002
NM_001111125.3(IQSEC2):c.2355G>A (p.Pro785=) rs1327209801 0.00002
NM_001111125.3(IQSEC2):c.2811G>A (p.Gln937=) rs781835138 0.00002
NM_001111125.3(IQSEC2):c.2831A>G (p.Asn944Ser) rs781808414 0.00002
NM_001111125.3(IQSEC2):c.3278-13G>C rs782674949 0.00002
NM_001111125.3(IQSEC2):c.3387C>T (p.Tyr1129=) rs374220843 0.00002
NM_001111125.3(IQSEC2):c.3668C>T (p.Pro1223Leu) rs1161354303 0.00002
NM_001111125.3(IQSEC2):c.3730C>T (p.His1244Tyr) rs1290683569 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001111125.3(IQSEC2):c.4418C>T (p.Pro1473Leu) rs1556858927 0.00002
NM_001172509.2(SATB2):c.121A>G (p.Met41Val) rs919635073 0.00002
NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val) rs1451743452 0.00002
NM_001172509.2(SATB2):c.2135A>G (p.Lys712Arg) rs999561200 0.00002
NM_001172509.2(SATB2):c.568A>T (p.Thr190Ser) rs1333077167 0.00002
NM_001172509.2(SATB2):c.695T>C (p.Ile232Thr) rs773467832 0.00002
NM_001244008.2(KIF1A):c.2344A>G (p.Lys782Glu) rs569071678 0.00002
NM_001244008.2(KIF1A):c.3721G>A (p.Glu1241Lys) rs770190085 0.00002
NM_001244008.2(KIF1A):c.3816+9C>T rs527731125 0.00002
NM_001244008.2(KIF1A):c.4142C>T (p.Pro1381Leu) rs766841187 0.00002
NM_001244008.2(KIF1A):c.423C>T (p.Ser141=) rs565992344 0.00002
NM_001257291.2(SLC9A7):c.1059A>G (p.Lys353=) rs750488234 0.00002
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met) rs759524625 0.00002
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser) rs757603372 0.00002
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu) rs771373401 0.00002
NM_001347721.2(DYRK1A):c.1852C>T (p.Arg618Trp) rs758367401 0.00002
NM_001347721.2(DYRK1A):c.241A>G (p.Thr81Ala) rs767489712 0.00002
NM_001347721.2(DYRK1A):c.300+9T>C rs187183665 0.00002
NM_001353921.2(ARHGEF9):c.105A>G (p.Ala35=) rs782666474 0.00002
NM_001371727.1(GABRB2):c.1160G>A (p.Arg387Gln) rs369113102 0.00002
NM_001378120.1(MBD5):c.1377A>G (p.Arg459=) rs762047019 0.00002
NM_001378120.1(MBD5):c.4084T>C (p.Ser1362Pro) rs200395037 0.00002
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 0.00002
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=) rs745662991 0.00002
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His) rs138760068 0.00002
NM_003072.5(SMARCA4):c.2617-4G>A rs201020451 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val) rs190153828 0.00002
NM_004586.3(RPS6KA3):c.1086T>C (p.Thr362=) rs778140223 0.00002
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn) rs773615925 0.00002
NM_005120.3(MED12):c.1170C>T (p.Thr390=) rs772236514 0.00002
NM_005120.3(MED12):c.1332C>T (p.Cys444=) rs746205041 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.2202C>T (p.Tyr734=) rs1366328614 0.00002
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005120.3(MED12):c.2686-15C>T rs200842589 0.00002
NM_005120.3(MED12):c.3355-16C>G rs201933970 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.380C>T (p.Thr127Met) rs775072642 0.00002
NM_005120.3(MED12):c.4077T>G (p.Ser1359=) rs902073429 0.00002
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.4253+16G>A rs185066241 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.4380T>C (p.Ser1460=) rs377119772 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.4863+16G>A rs745396813 0.00002
NM_005120.3(MED12):c.5561G>A (p.Arg1854His) rs759125296 0.00002
NM_005120.3(MED12):c.981G>A (p.Thr327=) rs769757456 0.00002
NM_005249.5(FOXG1):c.418G>A (p.Val140Ile) rs1400545711 0.00002
NM_005334.3(HCFC1):c.1200T>C (p.Tyr400=) rs398124206 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_005334.3(HCFC1):c.2463T>A (p.Ile821=) rs371411952 0.00002
NM_005334.3(HCFC1):c.3270C>T (p.Thr1090=) rs782332238 0.00002
NM_005334.3(HCFC1):c.4275C>T (p.His1425=) rs782707963 0.00002
NM_005334.3(HCFC1):c.4426G>A (p.Val1476Met) rs781961897 0.00002
NM_005334.3(HCFC1):c.4497+4A>G rs782206577 0.00002
NM_005334.3(HCFC1):c.5261-17A>G rs782143370 0.00002
NM_005334.3(HCFC1):c.5517C>T (p.Asp1839=) rs782063013 0.00002
NM_005359.6(SMAD4):c.*5080A>G rs532965680 0.00002
NM_006516.4(SLC2A1):c.1278+9C>G rs550156548 0.00002
NM_006772.3(SYNGAP1):c.2830G>A (p.Gly944Ser) rs765718674 0.00002
NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln) rs557096495 0.00002
NM_006772.3(SYNGAP1):c.3160G>A (p.Gly1054Ser) rs774066129 0.00002
NM_006772.3(SYNGAP1):c.3181G>T (p.Gly1061Cys) rs753645263 0.00002
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala) rs777482147 0.00002
NM_006772.3(SYNGAP1):c.3397A>G (p.Ile1133Val) rs746524469 0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln) rs747376669 0.00002
NM_013275.6(ANKRD11):c.4404A>G (p.Lys1468=) rs745469592 0.00002
NM_013275.6(ANKRD11):c.7569+14C>A rs758994547 0.00002
NM_014795.4(ZEB2):c.1336C>T (p.Pro446Ser) rs1435380197 0.00002
NM_014795.4(ZEB2):c.1354A>G (p.Thr452Ala) rs781770369 0.00002
NM_014795.4(ZEB2):c.220G>A (p.Val74Met) rs767169568 0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val) rs730881178 0.00002
NM_014795.4(ZEB2):c.2248A>G (p.Ser750Gly) rs730881196 0.00002
NM_014795.4(ZEB2):c.2479C>T (p.Pro827Ser) rs780045123 0.00002
NM_014795.4(ZEB2):c.2993T>C (p.Met998Thr) rs553833674 0.00002
NM_014795.4(ZEB2):c.357T>G (p.Thr119=) rs776250942 0.00002
NM_014795.4(ZEB2):c.55A>T (p.Asn19Tyr) rs967864705 0.00002
NM_014795.4(ZEB2):c.981G>A (p.Ser327=) rs201579452 0.00002
NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=) rs377353179 0.00002
NM_016032.4(ZDHHC9):c.674+11C>T rs370687569 0.00002
NM_018026.4(PACS1):c.1457G>A (p.Ser486Asn) rs770126115 0.00002
NM_018026.4(PACS1):c.1838+3A>G rs775980710 0.00002
NM_018026.4(PACS1):c.684C>T (p.Gly228=) rs548594376 0.00002
NM_021120.4(DLG3):c.1280G>A (p.Arg427His) rs775293712 0.00002
NM_031206.7(LAS1L):c.1927+9del rs774312008 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_139058.3(ARX):c.1524G>A (p.Val508=) rs1056460685 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139058.3(ARX):c.361C>A (p.Pro121Thr) rs1308958274 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=) rs765601278 0.00002
NM_153252.5(BRWD3):c.957C>A (p.Val319=) rs746783547 0.00002
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu) rs1557142408 0.00001
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile) rs782751824 0.00001
NM_000489.6(ATRX):c.177C>T (p.Asn59=) rs782250182 0.00001
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn) rs897147546 0.00001
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497 0.00001
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr) rs782057275 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val) rs781916347 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3687G>A (p.Val1229=) rs1051682 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=) rs782303976 0.00001
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=) rs782707742 0.00001
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg) rs782115900 0.00001
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.5273-19A>G rs1278007263 0.00001
NM_000489.6(ATRX):c.5566+14C>T rs1003519094 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=) rs1557079262 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000489.6(ATRX):c.7072-3T>C rs782686541 0.00001
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile) rs782416494 0.00001
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser) rs782367711 0.00001
NM_000834.5(GRIN2B):c.1010+3G>A rs771246986 0.00001
NM_000834.5(GRIN2B):c.1125+9T>C rs764590430 0.00001
NM_000834.5(GRIN2B):c.1318A>G (p.Ile440Val) rs765062440 0.00001
NM_000834.5(GRIN2B):c.2325G>C (p.Gln775His) rs774981179 0.00001
NM_000834.5(GRIN2B):c.2700C>A (p.Arg900=) rs531269037 0.00001
NM_000834.5(GRIN2B):c.2938G>A (p.Val980Met) rs778202551 0.00001
NM_000834.5(GRIN2B):c.3049T>G (p.Ser1017Ala) rs1948601205 0.00001
NM_000834.5(GRIN2B):c.3148A>G (p.Ser1050Gly) rs1157190922 0.00001
NM_000834.5(GRIN2B):c.3402G>A (p.Leu1134=) rs1227988479 0.00001
NM_000834.5(GRIN2B):c.3588T>C (p.Pro1196=) rs200884387 0.00001
NM_000834.5(GRIN2B):c.3660C>G (p.Ser1220=) rs201983807 0.00001
NM_000834.5(GRIN2B):c.3685G>A (p.Val1229Met) rs1948582128 0.00001
NM_000834.5(GRIN2B):c.4035C>T (p.Gly1345=) rs776247380 0.00001
NM_000834.5(GRIN2B):c.4049C>T (p.Ala1350Val) rs763372245 0.00001
NM_000834.5(GRIN2B):c.4093A>C (p.Asn1365His) rs1330186615 0.00001
NM_000834.5(GRIN2B):c.4102G>A (p.Gly1368Ser) rs1043559346 0.00001
NM_000834.5(GRIN2B):c.4148C>T (p.Thr1383Met) rs775838374 0.00001
NM_000834.5(GRIN2B):c.4205A>G (p.Lys1402Arg) rs1349506481 0.00001
NM_000834.5(GRIN2B):c.4229C>T (p.Thr1410Met) rs779830552 0.00001
NM_000834.5(GRIN2B):c.4235C>A (p.Ala1412Glu) rs1314346300 0.00001
NM_000834.5(GRIN2B):c.425T>C (p.Met142Thr) rs1184168879 0.00001
NM_000834.5(GRIN2B):c.4265G>A (p.Arg1422Gln) rs75269586 0.00001
NM_000834.5(GRIN2B):c.4286C>T (p.Pro1429Leu) rs1261054497 0.00001
NM_000834.5(GRIN2B):c.4322G>A (p.Arg1441His) rs200903876 0.00001
NM_000834.5(GRIN2B):c.4355C>T (p.Ser1452Phe) rs756790727 0.00001
NM_000834.5(GRIN2B):c.4375A>G (p.Asn1459Asp) rs1384338205 0.00001
NM_000834.5(GRIN2B):c.619A>G (p.Met207Val) rs747790101 0.00001
NM_000834.5(GRIN2B):c.679A>G (p.Ile227Val) rs201672517 0.00001
NM_000834.5(GRIN2B):c.871G>A (p.Ala291Thr) rs1246772896 0.00001
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser) rs748965398 0.00001
NM_001015877.2(PHF6):c.240+10T>C rs750243844 0.00001
NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) rs143156492 0.00001
NM_001079872.2(CUL4B):c.2266+4T>A rs747816205 0.00001
NM_001110556.2(FLNA):c.1009G>A (p.Asp337Asn) rs782696220 0.00001
NM_001110556.2(FLNA):c.1288G>A (p.Val430Ile) rs1557179208 0.00001
NM_001110556.2(FLNA):c.1372G>A (p.Val458Ile) rs782791907 0.00001
NM_001110556.2(FLNA):c.1424G>A (p.Gly475Asp) rs1557179125 0.00001
NM_001110556.2(FLNA):c.1439C>T (p.Pro480Leu) rs782168634 0.00001
NM_001110556.2(FLNA):c.1455G>A (p.Ala485=) rs782650242 0.00001
NM_001110556.2(FLNA):c.1568-19G>A rs782606152 0.00001
NM_001110556.2(FLNA):c.1654G>A (p.Val552Ile) rs863223619 0.00001
NM_001110556.2(FLNA):c.1684G>A (p.Gly562Arg) rs781806203 0.00001
NM_001110556.2(FLNA):c.1686G>A (p.Gly562=) rs782730676 0.00001
NM_001110556.2(FLNA):c.1692-10G>A rs199740539 0.00001
NM_001110556.2(FLNA):c.1717G>A (p.Glu573Lys) rs1399359867 0.00001
NM_001110556.2(FLNA):c.17C>T (p.Ser6Phe) rs782780394 0.00001
NM_001110556.2(FLNA):c.1873G>A (p.Asp625Asn) rs1557178769 0.00001
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311 0.00001
NM_001110556.2(FLNA):c.2104G>A (p.Gly702Ser) rs781988346 0.00001
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) rs782287086 0.00001
NM_001110556.2(FLNA):c.2206G>A (p.Val736Met) rs1409855324 0.00001
NM_001110556.2(FLNA):c.2221G>A (p.Val741Met) rs782439081 0.00001
NM_001110556.2(FLNA):c.2361C>G (p.His787Gln) rs863223620 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2452G>A (p.Ala818Thr) rs782591945 0.00001
NM_001110556.2(FLNA):c.2467G>A (p.Asp823Asn) rs1557178278 0.00001
NM_001110556.2(FLNA):c.2473G>A (p.Asp825Asn) rs782555729 0.00001
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp) rs782772998 0.00001
NM_001110556.2(FLNA):c.2527G>A (p.Ala843Thr) rs782402900 0.00001
NM_001110556.2(FLNA):c.2762G>A (p.Arg921Gln) rs782334371 0.00001
NM_001110556.2(FLNA):c.2783A>G (p.His928Arg) rs1209463656 0.00001
NM_001110556.2(FLNA):c.2791A>G (p.Asn931Asp) rs190437842 0.00001
NM_001110556.2(FLNA):c.2831C>T (p.Pro944Leu) rs782451202 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3023T>C (p.Ile1008Thr) rs1557178033 0.00001
NM_001110556.2(FLNA):c.3112G>A (p.Glu1038Lys) rs1187268269 0.00001
NM_001110556.2(FLNA):c.3283G>A (p.Ala1095Thr) rs781864297 0.00001
NM_001110556.2(FLNA):c.3370G>A (p.Val1124Met) rs781842942 0.00001
NM_001110556.2(FLNA):c.3412A>G (p.Ile1138Val) rs782318545 0.00001
NM_001110556.2(FLNA):c.3420C>T (p.Phe1140=) rs782219300 0.00001
NM_001110556.2(FLNA):c.3460G>A (p.Val1154Met) rs1557177750 0.00001
NM_001110556.2(FLNA):c.3592T>C (p.Cys1198Arg) rs781924230 0.00001
NM_001110556.2(FLNA):c.3602C>T (p.Ala1201Val) rs201810442 0.00001
NM_001110556.2(FLNA):c.3618G>A (p.Glu1206=) rs1557177714 0.00001
NM_001110556.2(FLNA):c.3769G>A (p.Gly1257Ser) rs781896277 0.00001
NM_001110556.2(FLNA):c.4076G>A (p.Arg1359His) rs1557177520 0.00001
NM_001110556.2(FLNA):c.4082A>G (p.His1361Arg) rs782774182 0.00001
NM_001110556.2(FLNA):c.4207A>G (p.Met1403Val) rs781976719 0.00001
NM_001110556.2(FLNA):c.4276G>A (p.Val1426Ile) rs782073521 0.00001
NM_001110556.2(FLNA):c.4432G>T (p.Ala1478Ser) rs781855364 0.00001
NM_001110556.2(FLNA):c.4772C>T (p.Pro1591Leu) rs372729831 0.00001
NM_001110556.2(FLNA):c.4803C>T (p.Asp1601=) rs1557177102 0.00001
NM_001110556.2(FLNA):c.4997T>C (p.Ile1666Thr) rs863223639 0.00001
NM_001110556.2(FLNA):c.5054C>T (p.Thr1685Met) rs781783107 0.00001
NM_001110556.2(FLNA):c.5095G>A (p.Asp1699Asn) rs782048198 0.00001
NM_001110556.2(FLNA):c.5098G>A (p.Val1700Met) rs782351877 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001110556.2(FLNA):c.5161G>A (p.Val1721Ile) rs187497365 0.00001
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu) rs1557176526 0.00001
NM_001110556.2(FLNA):c.5281T>C (p.Tyr1761His) rs1293701269 0.00001
NM_001110556.2(FLNA):c.5299G>A (p.Gly1767Ser) rs1557176498 0.00001
NM_001110556.2(FLNA):c.5319G>A (p.Pro1773=) rs782127738 0.00001
NM_001110556.2(FLNA):c.5476G>A (p.Gly1826Ser) rs782269425 0.00001
NM_001110556.2(FLNA):c.5482G>A (p.Val1828Met) rs782448596 0.00001
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys) rs782307604 0.00001
NM_001110556.2(FLNA):c.5537A>G (p.Tyr1846Cys) rs782771039 0.00001
NM_001110556.2(FLNA):c.5591A>G (p.Asn1864Ser) rs782095418 0.00001
NM_001110556.2(FLNA):c.5866G>A (p.Asp1956Asn) rs930325486 0.00001
NM_001110556.2(FLNA):c.587G>A (p.Arg196Gln) rs1569551872 0.00001
NM_001110556.2(FLNA):c.5908G>A (p.Asp1970Asn) rs1304255474 0.00001
NM_001110556.2(FLNA):c.5966C>T (p.Pro1989Leu) rs992772682 0.00001
NM_001110556.2(FLNA):c.6019G>A (p.Val2007Met) rs200956777 0.00001
NM_001110556.2(FLNA):c.6050G>A (p.Gly2017Glu) rs1557176160 0.00001
NM_001110556.2(FLNA):c.6140C>G (p.Ala2047Gly) rs781802209 0.00001
NM_001110556.2(FLNA):c.6209T>C (p.Ile2070Thr) rs782693894 0.00001
NM_001110556.2(FLNA):c.6286G>A (p.Asp2096Asn) rs781962577 0.00001
NM_001110556.2(FLNA):c.6297C>T (p.Asp2099=) rs377571943 0.00001
NM_001110556.2(FLNA):c.6373G>A (p.Val2125Met) rs1557176038 0.00001
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341 0.00001
NM_001110556.2(FLNA):c.6506T>C (p.Ile2169Thr) rs1222551110 0.00001
NM_001110556.2(FLNA):c.6601C>T (p.Arg2201Cys) rs782621818 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001110556.2(FLNA):c.6817A>G (p.Ile2273Val) rs1004772663 0.00001
NM_001110556.2(FLNA):c.6990C>T (p.Gly2330=) rs782377203 0.00001
NM_001110556.2(FLNA):c.7000C>T (p.Arg2334Cys) rs782689584 0.00001
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646 0.00001
NM_001110556.2(FLNA):c.7051G>A (p.Ala2351Thr) rs1557175653 0.00001
NM_001110556.2(FLNA):c.7055C>T (p.Ser2352Phe) rs1557175646 0.00001
NM_001110556.2(FLNA):c.7167T>G (p.Ala2389=) rs782541746 0.00001
NM_001110556.2(FLNA):c.71G>T (p.Arg24Leu) rs1350949025 0.00001
NM_001110556.2(FLNA):c.7324G>A (p.Gly2442Ser) rs782189345 0.00001
NM_001110556.2(FLNA):c.7361C>T (p.Thr2454Met) rs781788290 0.00001
NM_001110556.2(FLNA):c.7381G>T (p.Ala2461Ser) rs1557175387 0.00001
NM_001110556.2(FLNA):c.7468A>G (p.Met2490Val) rs782563616 0.00001
NM_001110556.2(FLNA):c.7544A>G (p.Lys2515Arg) rs782442409 0.00001
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala) rs886039104 0.00001
NM_001110556.2(FLNA):c.7651G>C (p.Gly2551Arg) rs1557175285 0.00001
NM_001110556.2(FLNA):c.7710C>G (p.Ala2570=) rs782709737 0.00001
NM_001110556.2(FLNA):c.902G>T (p.Arg301Leu) rs371600068 0.00001
NM_001110556.2(FLNA):c.969G>A (p.Pro323=) rs782178449 0.00001
NM_001110556.2(FLNA):c.972C>T (p.Ala324=) rs781806385 0.00001
NM_001110556.2(FLNA):c.973G>A (p.Gly325Arg) rs782724892 0.00001
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) rs782619288 0.00001
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) rs267608527 0.00001
NM_001111125.3(IQSEC2):c.1620G>A (p.Gln540=) rs376149648 0.00001
NM_001111125.3(IQSEC2):c.1656G>A (p.Pro552=) rs200411197 0.00001
NM_001111125.3(IQSEC2):c.1944C>T (p.Tyr648=) rs781942714 0.00001
NM_001111125.3(IQSEC2):c.2618G>A (p.Arg873His) rs370830356 0.00001
NM_001111125.3(IQSEC2):c.2627G>A (p.Arg876Gln) rs376739885 0.00001
NM_001111125.3(IQSEC2):c.3015+13T>G rs782124794 0.00001
NM_001111125.3(IQSEC2):c.3081C>T (p.Leu1027=) rs781862515 0.00001
NM_001111125.3(IQSEC2):c.3396C>T (p.Gly1132=) rs782725826 0.00001
NM_001111125.3(IQSEC2):c.385G>A (p.Val129Met) rs1347714754 0.00001
NM_001111125.3(IQSEC2):c.669C>T (p.Thr223=) rs782083256 0.00001
NM_001111125.3(IQSEC2):c.803C>G (p.Pro268Arg) rs368559547 0.00001
NM_001172509.2(SATB2):c.1072G>A (p.Val358Met) rs765504446 0.00001
NM_001172509.2(SATB2):c.1397C>T (p.Ser466Leu) rs780366664 0.00001
NM_001172509.2(SATB2):c.1445A>G (p.Asn482Ser) rs1302645769 0.00001
NM_001172509.2(SATB2):c.1543-6C>G rs1328592029 0.00001
NM_001172509.2(SATB2):c.1627C>T (p.Arg543Cys) rs756719862 0.00001
NM_001172509.2(SATB2):c.1704G>A (p.Met568Ile) rs1042085577 0.00001
NM_001172509.2(SATB2):c.1749T>C (p.His583=) rs199854906 0.00001
NM_001172509.2(SATB2):c.2172G>C (p.Lys724Asn) rs915648697 0.00001
NM_001172509.2(SATB2):c.2176G>A (p.Ala726Thr) rs551624897 0.00001
NM_001172509.2(SATB2):c.482A>G (p.Lys161Arg) rs1360355424 0.00001
NM_001172509.2(SATB2):c.597+4A>G rs777983427 0.00001
NM_001172509.2(SATB2):c.732C>A (p.Asp244Glu) rs766855879 0.00001
NM_001172509.2(SATB2):c.771T>G (p.Asn257Lys) rs1000649173 0.00001
NM_001172509.2(SATB2):c.894T>A (p.Leu298=) rs199530574 0.00001
NM_001172509.2(SATB2):c.94G>A (p.Ala32Thr) rs1461281024 0.00001
NM_001244008.2(KIF1A):c.231C>T (p.Ile77=) rs530669240 0.00001
NM_001244008.2(KIF1A):c.2582+7G>A rs781439626 0.00001
NM_001244008.2(KIF1A):c.4519C>T (p.Arg1507Trp) rs755721997 0.00001
NM_001244008.2(KIF1A):c.4952C>T (p.Ala1651Val) rs369475699 0.00001
NM_001330574.2(ZNF711):c.*47A>G rs755503652 0.00001
NM_001330574.2(ZNF711):c.2109C>T (p.Ser703=) rs150030676 0.00001
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys) rs367984873 0.00001
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His) rs750600368 0.00001
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp) rs1448604709 0.00001
NM_001347721.2(DYRK1A):c.1607C>T (p.Ala536Val) rs188293397 0.00001
NM_001347721.2(DYRK1A):c.1648C>T (p.Arg550Cys) rs757222616 0.00001
NM_001347721.2(DYRK1A):c.1658T>A (p.Phe553Tyr) rs745713557 0.00001
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp) rs760957728 0.00001
NM_001347721.2(DYRK1A):c.1915G>A (p.Val639Ile) rs201421931 0.00001
NM_001347721.2(DYRK1A):c.2003A>G (p.Asn668Ser) rs543826218 0.00001
NM_001347721.2(DYRK1A):c.2071G>A (p.Val691Ile) rs540559440 0.00001
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala) rs763795503 0.00001
NM_001347721.2(DYRK1A):c.2128A>G (p.Thr710Ala) rs774450081 0.00001
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys) rs1462221945 0.00001
NM_001347721.2(DYRK1A):c.650G>A (p.Arg217His) rs758727805 0.00001
NM_001353921.2(ARHGEF9):c.1077+13C>G rs782189949 0.00001
NM_001353921.2(ARHGEF9):c.29T>C (p.Met10Thr) rs1421919089 0.00001
NM_001353921.2(ARHGEF9):c.31-16C>T rs782420279 0.00001
NM_001353921.2(ARHGEF9):c.403-19G>A rs782062229 0.00001
NM_001353921.2(ARHGEF9):c.639G>A (p.Met213Ile) rs1384182085 0.00001
NM_001371727.1(GABRB2):c.1077+6T>C rs993294374 0.00001
NM_001371727.1(GABRB2):c.1144C>T (p.Leu382Phe) rs756481987 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.1382C>T (p.Ala461Val) rs952831120 0.00001
NM_001371727.1(GABRB2):c.1430C>T (p.Thr477Ile) rs781122974 0.00001
NM_001371727.1(GABRB2):c.46C>G (p.Pro16Ala) rs775021096 0.00001
NM_001371727.1(GABRB2):c.662A>G (p.Lys221Arg) rs1273884286 0.00001
NM_001371727.1(GABRB2):c.77+16G>T rs778830538 0.00001
NM_001371727.1(GABRB2):c.9A>T (p.Arg3Ser) rs967225542 0.00001
NM_001371928.1(AHDC1):c.984G>T (p.Leu328=) rs749199491 0.00001
NM_001378120.1(MBD5):c.109G>A (p.Val37Ile) rs747911147 0.00001
NM_001378120.1(MBD5):c.1111C>G (p.Gln371Glu) rs536900412 0.00001
NM_001378120.1(MBD5):c.1963G>A (p.Ala655Thr) rs576930680 0.00001
NM_001378120.1(MBD5):c.2524T>C (p.Ser842Pro) rs144805912 0.00001
NM_001378120.1(MBD5):c.3925G>A (p.Val1309Ile) rs973326943 0.00001
NM_001378120.1(MBD5):c.396A>G (p.Thr132=) rs778891789 0.00001
NM_001378120.1(MBD5):c.398-12C>T rs556768118 0.00001
NM_001378120.1(MBD5):c.4121G>A (p.Ser1374Asn) rs763106823 0.00001
NM_001378120.1(MBD5):c.4199C>T (p.Pro1400Leu) rs1057522316 0.00001
NM_001378120.1(MBD5):c.4438A>G (p.Ile1480Val) rs746105686 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378120.1(MBD5):c.785A>G (p.Asn262Ser) rs772659870 0.00001
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256 0.00001
NM_001429.4(EP300):c.206G>A (p.Gly69Asp) rs370355846 0.00001
NM_001429.4(EP300):c.271C>T (p.Pro91Ser) rs138538553 0.00001
NM_001429.4(EP300):c.2997+12G>A rs372770495 0.00001
NM_001429.4(EP300):c.469C>A (p.Pro157Thr) rs748538778 0.00001
NM_001429.4(EP300):c.471A>G (p.Pro157=) rs770598337 0.00001
NM_001429.4(EP300):c.5709C>T (p.Gly1903=) rs200728751 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 0.00001
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser) rs201369756 0.00001
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259 0.00001
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser) rs1322552264 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.963C>T (p.Thr321=) rs1363064582 0.00001
NM_003070.5(SMARCA2):c.1675A>C (p.Arg559=) rs753721830 0.00001
NM_003070.5(SMARCA2):c.1877+9T>A rs760917036 0.00001
NM_003070.5(SMARCA2):c.4679G>A (p.Arg1560Gln) rs537631853 0.00001
NM_003070.5(SMARCA2):c.597C>T (p.Pro199=) rs747247552 0.00001
NM_003070.5(SMARCA2):c.791-7C>T rs558585794 0.00001
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=) rs762449855 0.00001
NM_003072.5(SMARCA4):c.2637T>C (p.Ile879=) rs369795542 0.00001
NM_003072.5(SMARCA4):c.4251C>T (p.Ser1417=) rs377057304 0.00001
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=) rs529632222 0.00001
NM_004208.4(AIFM1):c.911C>T (p.Thr304Met) rs200114054 0.00001
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) rs746902106 0.00001
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser) rs558051943 0.00001
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) rs563033919 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004586.3(RPS6KA3):c.48G>C (p.Glu16Asp) rs1327104134 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1485+5G>A rs1006276729 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.205-20G>A rs780403920 0.00001
NM_005120.3(MED12):c.2194G>A (p.Val732Met) rs750304793 0.00001
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr) rs756039521 0.00001
NM_005120.3(MED12):c.2265C>T (p.Val755=) rs750186446 0.00001
NM_005120.3(MED12):c.2280G>A (p.Val760=) rs753948557 0.00001
NM_005120.3(MED12):c.2422+16C>A rs774516868 0.00001
NM_005120.3(MED12):c.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032 0.00001
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser) rs1444442163 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985 0.00001
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val) rs1046757174 0.00001
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser) rs781638379 0.00001
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro) rs777453338 0.00001
NM_005249.5(FOXG1):c.107G>A (p.Ser36Asn) rs1881775466 0.00001
NM_005249.5(FOXG1):c.1384A>G (p.Ser462Gly) rs752379833 0.00001
NM_005249.5(FOXG1):c.256C>A (p.Gln86Lys) rs398124202 0.00001
NM_005249.5(FOXG1):c.275C>T (p.Ala92Val) rs1057520147 0.00001
NM_005249.5(FOXG1):c.308T>A (p.Leu103Gln) rs1276635464 0.00001
NM_005249.5(FOXG1):c.378C>T (p.Gly126=) rs572031458 0.00001
NM_005249.5(FOXG1):c.382G>T (p.Gly128Cys) rs1029176730 0.00001
NM_005249.5(FOXG1):c.457G>T (p.Gly153Trp) rs1881797133 0.00001
NM_005334.3(HCFC1):c.2667C>T (p.Thr889=) rs782558280 0.00001
NM_005334.3(HCFC1):c.2685C>T (p.Ala895=) rs782774910 0.00001
NM_005334.3(HCFC1):c.3228G>A (p.Ser1076=) rs375223452 0.00001
NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) rs782473277 0.00001
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) rs782322654 0.00001
NM_005334.3(HCFC1):c.4195G>A (p.Val1399Ile) rs371594842 0.00001
NM_005359.6(SMAD4):c.*30A>C rs767288576 0.00001
NM_005359.6(SMAD4):c.*334C>T rs534790830 0.00001
NM_005359.6(SMAD4):c.*4643T>C rs369040052 0.00001
NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr) rs746165075 0.00001
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.1350A>G (p.Ala450=) rs751331097 0.00001
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) rs559061651 0.00001
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) rs761691865 0.00001
NM_006772.3(SYNGAP1):c.2668C>T (p.Arg890Cys) rs1761097804 0.00001
NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=) rs769826724 0.00001
NM_006772.3(SYNGAP1):c.2760A>G (p.Gln920=) rs1466615976 0.00001
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) rs752316341 0.00001
NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr) rs756181133 0.00001
NM_006772.3(SYNGAP1):c.3179G>T (p.Gly1060Val) rs1422793438 0.00001
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His) rs764952741 0.00001
NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg) rs748702892 0.00001
NM_006772.3(SYNGAP1):c.3582+4C>T rs376752755 0.00001
NM_006772.3(SYNGAP1):c.3582+6A>C rs768094841 0.00001
NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln) rs906055922 0.00001
NM_006772.3(SYNGAP1):c.3848C>T (p.Pro1283Leu) rs1396355432 0.00001
NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys) rs1226494061 0.00001
NM_006772.3(SYNGAP1):c.603T>G (p.Asp201Glu) rs768682743 0.00001
NM_006772.3(SYNGAP1):c.76G>A (p.Gly26Arg) rs1554304652 0.00001
NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys) rs1760889495 0.00001
NM_007327.4(GRIN1):c.1108A>G (p.Thr370Ala) rs746527135 0.00001
NM_007327.4(GRIN1):c.1149C>T (p.Gly383=) rs138398771 0.00001
NM_007327.4(GRIN1):c.1335C>T (p.Gly445=) rs370360183 0.00001
NM_007327.4(GRIN1):c.1468-8C>A rs1588729972 0.00001
NM_007327.4(GRIN1):c.1516C>T (p.Leu506Phe) rs778079350 0.00001
NM_007327.4(GRIN1):c.154C>G (p.Arg52Gly) rs950054021 0.00001
NM_007327.4(GRIN1):c.1716G>A (p.Val572=) rs151030252 0.00001
NM_007327.4(GRIN1):c.2172-18C>G rs759465840 0.00001
NM_007327.4(GRIN1):c.2334G>A (p.Lys778=) rs1176826197 0.00001
NM_007327.4(GRIN1):c.237C>T (p.Cys79=) rs200529044 0.00001
NM_007327.4(GRIN1):c.264C>T (p.Tyr88=) rs199679287 0.00001
NM_007327.4(GRIN1):c.700G>A (p.Ala234Thr) rs1464941427 0.00001
NM_007327.4(GRIN1):c.864G>A (p.Val288=) rs770852927 0.00001
NM_007327.4(GRIN1):c.969-3T>C rs771650497 0.00001
NM_007327.4(GRIN1):c.992C>T (p.Ala331Val) rs201324316 0.00001
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_013275.6(ANKRD11):c.2889C>T (p.Asp963=) rs139955323 0.00001
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg) rs764356904 0.00001
NM_013275.6(ANKRD11):c.389A>G (p.Asn130Ser) rs745320027 0.00001
NM_013275.6(ANKRD11):c.5167A>C (p.Arg1723=) rs200482809 0.00001
NM_013275.6(ANKRD11):c.5196C>T (p.Tyr1732=) rs567432230 0.00001
NM_013275.6(ANKRD11):c.5412C>T (p.Ser1804=) rs768481687 0.00001
NM_013275.6(ANKRD11):c.5415C>T (p.Val1805=) rs549029103 0.00001
NM_013275.6(ANKRD11):c.5998C>T (p.Leu2000Phe) rs777086823 0.00001
NM_013275.6(ANKRD11):c.6622T>G (p.Ser2208Ala) rs778171762 0.00001
NM_013275.6(ANKRD11):c.7368C>T (p.Cys2456=) rs139103143 0.00001
NM_013275.6(ANKRD11):c.7731A>C (p.Ser2577=) rs564437715 0.00001
NM_014271.4(IL1RAPL1):c.1089C>T (p.Gly363=) rs201215945 0.00001
NM_014795.4(ZEB2):c.1327A>G (p.Met443Val) rs763297068 0.00001
NM_014795.4(ZEB2):c.139G>T (p.Ala47Ser) rs730881184 0.00001
NM_014795.4(ZEB2):c.150C>T (p.Asp50=) rs587780996 0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met) rs780890592 0.00001
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087 0.00001
NM_014795.4(ZEB2):c.2043G>A (p.Val681=) rs769391382 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala) rs1490526407 0.00001
NM_014795.4(ZEB2):c.2565C>G (p.Asn855Lys) rs904620951 0.00001
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp) rs1242134764 0.00001
NM_014795.4(ZEB2):c.2804T>C (p.Met935Thr) rs201902790 0.00001
NM_014795.4(ZEB2):c.28C>T (p.Pro10Ser) rs1451219938 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_014795.4(ZEB2):c.467G>A (p.Arg156His) rs1250217464 0.00001
NM_014795.4(ZEB2):c.593-8G>A rs772118840 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_016032.4(ZDHHC9):c.487+17G>A rs572453121 0.00001
NM_016032.4(ZDHHC9):c.979-18A>G rs202246689 0.00001
NM_018026.4(PACS1):c.1491-4G>C rs1000498364 0.00001
NM_018026.4(PACS1):c.2378C>T (p.Thr793Met) rs763210681 0.00001
NM_018026.4(PACS1):c.2776+5G>A rs371976817 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_018026.4(PACS1):c.691G>C (p.Val231Leu) rs754155683 0.00001
NM_020717.5(SHROOM4):c.3942+48T>C rs781925536 0.00001
NM_031206.7(LAS1L):c.763C>T (p.His255Tyr) rs1367442721 0.00001
NM_080632.3(UPF3B):c.265T>C (p.Leu89=) rs761622396 0.00001
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729 0.00001
NM_139058.3(ARX):c.738C>T (p.Asp246=) rs750465338 0.00001
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) rs779782582 0.00001
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_152641.4(ARID2):c.4769C>T (p.Pro1590Leu) rs765441891 0.00001
NC_000002.11:g.(?_241656761)_(241709143_?)del
NC_000002.11:g.(?_241656781)_(241709133_?)dup
NC_000002.11:g.(?_241656781)_(241709143_?)dup
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu) rs898727479
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro) rs201503118
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
NM_000489.6(ATRX):c.180C>T (p.Ser60=) rs2072319089
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
NM_000489.6(ATRX):c.20+12C>T
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn) rs2148598084
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
NM_000489.6(ATRX):c.3737-9dup
NM_000489.6(ATRX):c.3810-20del
NM_000489.6(ATRX):c.3810-20dup
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr) rs930261155
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
NM_000489.6(ATRX):c.4558-8del
NM_000489.6(ATRX):c.4956+12del
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5698-19G>A
NM_000489.6(ATRX):c.5698-7del rs781820607
NM_000489.6(ATRX):c.5698-7dup rs781820607
NM_000489.6(ATRX):c.5786+19C>T
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.5957-15A>G
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly) rs1557082359
NM_000489.6(ATRX):c.6110+12A>G
NM_000489.6(ATRX):c.6111-9dup rs1557079294
NM_000489.6(ATRX):c.6504+17C>A
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=) rs781823496
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
NM_000489.6(ATRX):c.6850-9dup
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
NM_000489.6(ATRX):c.7071+16A>G
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys) rs2147648778
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser) rs199543136
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
NM_000834.5(GRIN2B):c.1103A>C (p.Asn368Thr) rs1314805334
NM_000834.5(GRIN2B):c.1146G>C (p.Lys382Asn)
NM_000834.5(GRIN2B):c.1147T>A (p.Ser383Thr) rs199671864
NM_000834.5(GRIN2B):c.1288A>C (p.Met430Leu)
NM_000834.5(GRIN2B):c.1479C>G (p.Thr493=) rs202139349
NM_000834.5(GRIN2B):c.1655-12dup rs768388356
NM_000834.5(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.5(GRIN2B):c.188C>T (p.Ser63Phe) rs1865821627
NM_000834.5(GRIN2B):c.189C>A (p.Ser63=) rs199707487
NM_000834.5(GRIN2B):c.2172-10del rs761900678
NM_000834.5(GRIN2B):c.2172-15dup rs761900678
NM_000834.5(GRIN2B):c.2202A>G (p.Ala734=) rs148185805
NM_000834.5(GRIN2B):c.2552T>C (p.Met851Thr)
NM_000834.5(GRIN2B):c.2665G>A (p.Ala889Thr) rs756224637
NM_000834.5(GRIN2B):c.2717A>G (p.Lys906Arg)
NM_000834.5(GRIN2B):c.2745T>A (p.Asn915Lys)
NM_000834.5(GRIN2B):c.274C>A (p.Arg92=) rs1436757161
NM_000834.5(GRIN2B):c.278A>G (p.Lys93Arg) rs1865819544
NM_000834.5(GRIN2B):c.2810A>G (p.His937Arg) rs1168893427
NM_000834.5(GRIN2B):c.2960A>G (p.His987Arg) rs765183831
NM_000834.5(GRIN2B):c.2975A>G (p.His992Arg) rs1555102461
NM_000834.5(GRIN2B):c.3028C>T (p.Pro1010Ser)
NM_000834.5(GRIN2B):c.3082C>T (p.Pro1028Ser)
NM_000834.5(GRIN2B):c.3127T>G (p.Ser1043Ala) rs1251332746
NM_000834.5(GRIN2B):c.3160G>A (p.Asp1054Asn)
NM_000834.5(GRIN2B):c.3340C>T (p.Pro1114Ser) rs2136404905
NM_000834.5(GRIN2B):c.3344G>A (p.Arg1115His) rs199514711
NM_000834.5(GRIN2B):c.3389G>T (p.Arg1130Leu) rs148625092
NM_000834.5(GRIN2B):c.3413G>T (p.Arg1138Leu) rs187979330
NM_000834.5(GRIN2B):c.3473G>T (p.Arg1158Leu) rs143955920
NM_000834.5(GRIN2B):c.3497C>G (p.Ser1166Cys)
NM_000834.5(GRIN2B):c.3543C>A (p.His1181Gln) rs866476716
NM_000834.5(GRIN2B):c.3550G>A (p.Gly1184Ser)
NM_000834.5(GRIN2B):c.362C>T (p.Thr121Ile)
NM_000834.5(GRIN2B):c.3641T>C (p.Phe1214Ser)
NM_000834.5(GRIN2B):c.3673T>A (p.Tyr1225Asn) rs1591605873
NM_000834.5(GRIN2B):c.3703G>A (p.Gly1235Ser) rs886049099
NM_000834.5(GRIN2B):c.3722G>A (p.Arg1241Gln) rs2136403871
NM_000834.5(GRIN2B):c.3886A>C (p.Asn1296His) rs1555101871
NM_000834.5(GRIN2B):c.38G>T (p.Trp13Leu) rs765133670
NM_000834.5(GRIN2B):c.3943G>A (p.Ala1315Thr)
NM_000834.5(GRIN2B):c.3950T>C (p.Leu1317Pro) rs2136403363
NM_000834.5(GRIN2B):c.3964G>T (p.Val1322Leu)
NM_000834.5(GRIN2B):c.3991A>C (p.Met1331Leu) rs1338505023
NM_000834.5(GRIN2B):c.4021G>C (p.Glu1341Gln)
NM_000834.5(GRIN2B):c.4031C>T (p.Ala1344Val) rs759438353
NM_000834.5(GRIN2B):c.4075G>T (p.Ala1359Ser) rs2136403015
NM_000834.5(GRIN2B):c.4102G>T (p.Gly1368Cys)
NM_000834.5(GRIN2B):c.4114A>G (p.Met1372Val)
NM_000834.5(GRIN2B):c.4162A>G (p.Ile1388Val)
NM_000834.5(GRIN2B):c.4229C>G (p.Thr1410Arg) rs779830552
NM_000834.5(GRIN2B):c.4289T>C (p.Val1430Ala)
NM_000834.5(GRIN2B):c.4300C>T (p.Leu1434Phe) rs1002108827
NM_000834.5(GRIN2B):c.4307G>C (p.Gly1436Ala) rs1565452616
NM_000834.5(GRIN2B):c.4312G>A (p.Val1438Met) rs763699668
NM_000834.5(GRIN2B):c.4337T>A (p.Ile1446Asn)
NM_000834.5(GRIN2B):c.465C>A (p.Ser155=) rs115189840
NM_000834.5(GRIN2B):c.511A>G (p.Ile171Val)
NM_000834.5(GRIN2B):c.627G>A (p.Leu209=)
NM_000834.5(GRIN2B):c.76G>A (p.Ala26Thr) rs79962661
NM_000834.5(GRIN2B):c.80G>T (p.Arg27Leu) rs200727145
NM_000834.5(GRIN2B):c.856G>C (p.Asp286His)
NM_000834.5(GRIN2B):c.868C>T (p.Pro290Ser) rs1863522709
NM_000834.5(GRIN2B):c.92G>C (p.Ser31Thr) rs746004289
NM_000834.5(GRIN2B):c.94C>A (p.Pro32Thr)
NM_000834.5(GRIN2B):c.959G>C (p.Ser320Thr) rs931791422
NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg) rs1555132930
NM_001015877.2(PHF6):c.138+10C>T rs778255925
NM_001015877.2(PHF6):c.139-11_139-7del rs781657256
NM_001015877.2(PHF6):c.241-17T>C
NM_001015877.2(PHF6):c.274A>G (p.Ile92Val)
NM_001015877.2(PHF6):c.374+16_374+20del
NM_001015877.2(PHF6):c.399A>G (p.Lys133=) rs780193840
NM_001015877.2(PHF6):c.407A>G (p.His136Arg)
NM_001015877.2(PHF6):c.537C>G (p.Thr179=)
NM_001015877.2(PHF6):c.585+14dup
NM_001015877.2(PHF6):c.586-18T>C
NM_001015877.2(PHF6):c.648T>C (p.His216=)
NM_001020658.2(PUM1):c.364G>A (p.Val122Met) rs1643312973
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)
NM_001079872.2(CUL4B):c.1257-9del rs746854249
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)
NM_001079872.2(CUL4B):c.1636+11C>T
NM_001079872.2(CUL4B):c.1853-19G>A
NM_001079872.2(CUL4B):c.1939-19T>C
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
NM_001079872.2(CUL4B):c.2046+6A>C
NM_001079872.2(CUL4B):c.2161-15T>C rs183114462
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)
NM_001079872.2(CUL4B):c.776+7dup rs200461872
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001080397.3(SLC45A1):c.1335G>A (p.Pro445=)
NM_001080397.3(SLC45A1):c.1507G>T (p.Ala503Ser) rs7535752
NM_001081550.2(THOC2):c.769-20dup rs201356571
NM_001110556.2(FLNA):c.1018C>T (p.Arg340Cys)
NM_001110556.2(FLNA):c.1039G>A (p.Val347Ile) rs782234539
NM_001110556.2(FLNA):c.1093A>G (p.Ile365Val)
NM_001110556.2(FLNA):c.1095C>T (p.Ile365=) rs373366243
NM_001110556.2(FLNA):c.1243G>A (p.Glu415Lys)
NM_001110556.2(FLNA):c.1315G>A (p.Asp439Asn)
NM_001110556.2(FLNA):c.1366G>T (p.Val456Leu) rs782495199
NM_001110556.2(FLNA):c.1400G>A (p.Arg467His)
NM_001110556.2(FLNA):c.1430-16del rs782361173
NM_001110556.2(FLNA):c.1456G>A (p.Val486Ile) rs1557179006
NM_001110556.2(FLNA):c.1482T>C (p.Gly494=)
NM_001110556.2(FLNA):c.1601G>T (p.Gly534Val)
NM_001110556.2(FLNA):c.1623G>T (p.Glu541Asp)
NM_001110556.2(FLNA):c.1664C>T (p.Thr555Met) rs782611953
NM_001110556.2(FLNA):c.1691+11dup
NM_001110556.2(FLNA):c.1720T>C (p.Cys574Arg)
NM_001110556.2(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001110556.2(FLNA):c.1900C>T (p.Arg634Cys)
NM_001110556.2(FLNA):c.19C>T (p.Arg7Trp) rs941318584
NM_001110556.2(FLNA):c.2281-13del
NM_001110556.2(FLNA):c.2291G>C (p.Gly764Ala)
NM_001110556.2(FLNA):c.2358C>T (p.Ala786=)
NM_001110556.2(FLNA):c.2405-8_2405-5dup rs782040815
NM_001110556.2(FLNA):c.2515A>G (p.Thr839Ala)
NM_001110556.2(FLNA):c.2585T>C (p.Ile862Thr)
NM_001110556.2(FLNA):c.25G>T (p.Gly9Cys) rs782292045
NM_001110556.2(FLNA):c.2629G>A (p.Ala877Thr)
NM_001110556.2(FLNA):c.2650C>A (p.Arg884Ser)
NM_001110556.2(FLNA):c.2665C>T (p.Leu889Phe)
NM_001110556.2(FLNA):c.2826+7A>G rs782545599
NM_001110556.2(FLNA):c.2910C>G (p.Asp970Glu)
NM_001110556.2(FLNA):c.2952C>G (p.Asp984Glu) rs782513930
NM_001110556.2(FLNA):c.3144C>T (p.Asp1048=)
NM_001110556.2(FLNA):c.3253C>T (p.Pro1085Ser)
NM_001110556.2(FLNA):c.3387C>G (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3388G>A (p.Glu1130Lys)
NM_001110556.2(FLNA):c.33C>T (p.Ser11=)
NM_001110556.2(FLNA):c.3406A>T (p.Ile1136Phe)
NM_001110556.2(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001110556.2(FLNA):c.3491A>G (p.Lys1164Arg)
NM_001110556.2(FLNA):c.3514C>T (p.Arg1172Trp)
NM_001110556.2(FLNA):c.3537C>A (p.Gly1179=)
NM_001110556.2(FLNA):c.3561C>T (p.Ser1187=) rs1396701849
NM_001110556.2(FLNA):c.374-17C>T
NM_001110556.2(FLNA):c.3805+15C>T rs144968452
NM_001110556.2(FLNA):c.3881A>C (p.Lys1294Thr)
NM_001110556.2(FLNA):c.3979+8_3979+11del rs781854538
NM_001110556.2(FLNA):c.4070G>A (p.Arg1357Gln) rs782490288
NM_001110556.2(FLNA):c.4083C>T (p.His1361=)
NM_001110556.2(FLNA):c.4332T>C (p.Asp1444=)
NM_001110556.2(FLNA):c.4391G>A (p.Arg1464His)
NM_001110556.2(FLNA):c.4428C>T (p.Ser1476=)
NM_001110556.2(FLNA):c.4441G>A (p.Ala1481Thr)
NM_001110556.2(FLNA):c.4462C>G (p.Gln1488Glu)
NM_001110556.2(FLNA):c.4488A>G (p.Pro1496=)
NM_001110556.2(FLNA):c.4669A>G (p.Thr1557Ala) rs782484503
NM_001110556.2(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001110556.2(FLNA):c.4746C>T (p.Val1582=)
NM_001110556.2(FLNA):c.4785C>T (p.His1595=)
NM_001110556.2(FLNA):c.4808C>T (p.Thr1603Met)
NM_001110556.2(FLNA):c.495G>A (p.Lys165=)
NM_001110556.2(FLNA):c.5100G>A (p.Val1700=)
NM_001110556.2(FLNA):c.5217+13G>A rs370737630
NM_001110556.2(FLNA):c.5217+18del
NM_001110556.2(FLNA):c.5258G>A (p.Arg1753Gln)
NM_001110556.2(FLNA):c.5472A>C (p.Lys1824Asn)
NM_001110556.2(FLNA):c.5592C>T (p.Asn1864=) rs782315233
NM_001110556.2(FLNA):c.58G>T (p.Gly20Cys)
NM_001110556.2(FLNA):c.5907C>T (p.Ala1969=) rs375906241
NM_001110556.2(FLNA):c.6034G>A (p.Val2012Met)
NM_001110556.2(FLNA):c.6144T>A (p.Ser2048Arg)
NM_001110556.2(FLNA):c.6153G>A (p.Arg2051=)
NM_001110556.2(FLNA):c.6174C>T (p.His2058=)
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup) rs782721874
NM_001110556.2(FLNA):c.6302C>G (p.Thr2101Arg)
NM_001110556.2(FLNA):c.6306C>T (p.Cys2102=)
NM_001110556.2(FLNA):c.6372C>T (p.His2124=)
NM_001110556.2(FLNA):c.6409G>A (p.Glu2137Lys) rs782142395
NM_001110556.2(FLNA):c.6442C>T (p.Arg2148Cys)
NM_001110556.2(FLNA):c.6502+7G>A rs782202978
NM_001110556.2(FLNA):c.6546G>A (p.Ser2182=)
NM_001110556.2(FLNA):c.6564C>T (p.Ala2188=)
NM_001110556.2(FLNA):c.6571G>A (p.Val2191Met)
NM_001110556.2(FLNA):c.6687C>T (p.Thr2229=)
NM_001110556.2(FLNA):c.6708G>A (p.Gly2236=)
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001110556.2(FLNA):c.7131G>A (p.Glu2377=)
NM_001110556.2(FLNA):c.7256G>A (p.Arg2419Gln)
NM_001110556.2(FLNA):c.7323C>T (p.Gly2441=)
NM_001110556.2(FLNA):c.7333+18G>A
NM_001110556.2(FLNA):c.7365C>T (p.Ser2455=)
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr)
NM_001110556.2(FLNA):c.7633C>G (p.Pro2545Ala)
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) rs782308141
NM_001110556.2(FLNA):c.7715T>C (p.Val2572Ala)
NM_001110556.2(FLNA):c.7756+11= rs7063300
NM_001110556.2(FLNA):c.7756+20G>T rs782395246
NM_001110556.2(FLNA):c.7803C>T (p.Cys2601=)
NM_001110556.2(FLNA):c.7822C>T (p.His2608Tyr) rs781993962
NM_001110556.2(FLNA):c.7880C>G (p.Thr2627Arg)
NM_001110556.2(FLNA):c.902G>A (p.Arg301Gln)
NM_001110792.2(MECP2):c.*156G>T
NM_001110792.2(MECP2):c.*2706G>A rs267608357
NM_001110792.2(MECP2):c.*529G>T rs267608362
NM_001110792.2(MECP2):c.*5478AT[6] rs202139104
NM_001110792.2(MECP2):c.*8503del rs267608360
NM_001110792.2(MECP2):c.*8503dup rs267608360
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.1097G>A (p.Arg366His) rs61748387
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) rs61752381
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-65C>G
NM_001110792.2(MECP2):c.62+5503del rs372915987
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001111125.3(IQSEC2):c.1402-10C>A rs183644900
NM_001111125.3(IQSEC2):c.1402-10C>G rs183644900
NM_001111125.3(IQSEC2):c.1402-11C>A rs187186062
NM_001111125.3(IQSEC2):c.1402-11C>G rs187186062
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.1402-9del rs781861463
NM_001111125.3(IQSEC2):c.1454G>A (p.Gly485Glu)
NM_001111125.3(IQSEC2):c.1611C>G (p.Pro537=)
NM_001111125.3(IQSEC2):c.1658C>A (p.Pro553Gln) rs782165719
NM_001111125.3(IQSEC2):c.1696G>A (p.Gly566Ser)
NM_001111125.3(IQSEC2):c.1728C>T (p.Pro576=)
NM_001111125.3(IQSEC2):c.1764T>C (p.Ala588=)
NM_001111125.3(IQSEC2):c.1848C>T (p.His616=)
NM_001111125.3(IQSEC2):c.1869T>G (p.Ala623=)
NM_001111125.3(IQSEC2):c.2265G>T (p.Arg755=)
NM_001111125.3(IQSEC2):c.226C>T (p.Pro76Ser)
NM_001111125.3(IQSEC2):c.2562G>A (p.Glu854=)
NM_001111125.3(IQSEC2):c.2571C>T (p.Ile857=)
NM_001111125.3(IQSEC2):c.2582+19_2582+29delinsGTGTGCTGGACCCTTCAGTGACTGTGACTAAGCTCTTTCTAGGTGCCTGGTCTTCTGCCAGGTG rs2147085327
NM_001111125.3(IQSEC2):c.2582+4T>G
NM_001111125.3(IQSEC2):c.2583-14dup
NM_001111125.3(IQSEC2):c.2684T>C (p.Met895Thr) rs2147080510
NM_001111125.3(IQSEC2):c.2832C>T (p.Asn944=) rs782519675
NM_001111125.3(IQSEC2):c.303G>A (p.Glu101=)
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) rs782748833
NM_001111125.3(IQSEC2):c.3193A>G (p.Ser1065Gly) rs367700660
NM_001111125.3(IQSEC2):c.3229C>A (p.Arg1077Ser) rs782569979
NM_001111125.3(IQSEC2):c.3356C>T (p.Thr1119Met) rs782558010
NM_001111125.3(IQSEC2):c.3365G>A (p.Arg1122His) rs868984872
NM_001111125.3(IQSEC2):c.3414C>T (p.Gly1138=)
NM_001111125.3(IQSEC2):c.3552C>G (p.Pro1184=) rs1556859344
NM_001111125.3(IQSEC2):c.3591C>G (p.Pro1197=)
NM_001111125.3(IQSEC2):c.3662C>A (p.Pro1221Gln)
NM_001111125.3(IQSEC2):c.3717CCA[8] (p.His1247dup) rs782189881
NM_001111125.3(IQSEC2):c.3753C>T (p.His1251=) rs782399288
NM_001111125.3(IQSEC2):c.3864C>G (p.Pro1288=)
NM_001111125.3(IQSEC2):c.4081C>T (p.Leu1361=)
NM_001111125.3(IQSEC2):c.4205C>T (p.Ala1402Val)
NM_001111125.3(IQSEC2):c.4226G>A (p.Arg1409Gln)
NM_001111125.3(IQSEC2):c.619C>A (p.Arg207Ser) rs1295281780
NM_001111125.3(IQSEC2):c.643C>T (p.Pro215Ser) rs1037744173
NM_001111125.3(IQSEC2):c.708-18dup rs782120447
NM_001111125.3(IQSEC2):c.708-19_708-18del
NM_001111125.3(IQSEC2):c.74A>G (p.Glu25Gly) rs2075427734
NM_001111125.3(IQSEC2):c.756A>G (p.Pro252=)
NM_001111125.3(IQSEC2):c.999+12G>A
NM_001127178.3(PIGG):c.154+11dup rs782776784
NM_001127178.3(PIGG):c.1614+9G>A rs188737876
NM_001127178.3(PIGG):c.1614+9G>C rs188737876
NM_001127178.3(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127178.3(PIGG):c.2069+9G>T rs149305291
NM_001127178.3(PIGG):c.759+13G>A rs201035016
NM_001136035.4(TRMT1):c.1106+26G>C rs35601737
NM_001145358.2(SIN3A):c.3592-20T>A rs4886696
NM_001160372.4(TRAPPC9):c.731-31_731-11del rs11267571
NM_001172509.2(SATB2):c.1174-16del rs555268633
NM_001172509.2(SATB2):c.1174-16dup
NM_001172509.2(SATB2):c.118C>A (p.Pro40Thr)
NM_001172509.2(SATB2):c.1331A>G (p.Asn444Ser)
NM_001172509.2(SATB2):c.1346C>T (p.Ser449Phe) rs1323623166
NM_001172509.2(SATB2):c.1405A>C (p.Thr469Pro)
NM_001172509.2(SATB2):c.1432G>A (p.Gly478Ser) rs1043250716
NM_001172509.2(SATB2):c.1441A>G (p.Ile481Val) rs1559161533
NM_001172509.2(SATB2):c.1453G>C (p.Ala485Pro)
NM_001172509.2(SATB2):c.1459A>G (p.Ile487Val)
NM_001172509.2(SATB2):c.148G>T (p.Ala50Ser)
NM_001172509.2(SATB2):c.15C>A (p.Ser5Arg)
NM_001172509.2(SATB2):c.1711G>A (p.Val571Met) rs188013011
NM_001172509.2(SATB2):c.1732C>A (p.Pro578Thr)
NM_001172509.2(SATB2):c.1741G>C (p.Val581Leu) rs1692196446
NM_001172509.2(SATB2):c.1771A>C (p.Lys591Gln) rs2105707537
NM_001172509.2(SATB2):c.1817C>T (p.Pro606Leu)
NM_001172509.2(SATB2):c.1844C>T (p.Pro615Leu) rs1692191333
NM_001172509.2(SATB2):c.1970A>G (p.His657Arg) rs2105707013
NM_001172509.2(SATB2):c.2031A>C (p.Lys677Asn)
NM_001172509.2(SATB2):c.2105A>G (p.Asp702Gly)
NM_001172509.2(SATB2):c.2177C>T (p.Ala726Val) rs2105706426
NM_001172509.2(SATB2):c.233G>A (p.Arg78Lys) rs767582582
NM_001172509.2(SATB2):c.275T>C (p.Leu92Pro)
NM_001172509.2(SATB2):c.346+16_346+17delinsAA
NM_001172509.2(SATB2):c.365G>A (p.Arg122Lys)
NM_001172509.2(SATB2):c.376C>T (p.Leu126Phe) rs1574568704
NM_001172509.2(SATB2):c.426G>A (p.Met142Ile) rs764205432
NM_001172509.2(SATB2):c.598-13dup rs199978702
NM_001172509.2(SATB2):c.701-12A>C rs116585116
NM_001172509.2(SATB2):c.724C>T (p.Leu242Phe)
NM_001172509.2(SATB2):c.732C>G (p.Asp244Glu) rs766855879
NM_001172509.2(SATB2):c.74G>C (p.Gly25Ala)
NM_001172509.2(SATB2):c.752G>A (p.Arg251His) rs2105823583
NM_001172509.2(SATB2):c.803A>G (p.Asn268Ser) rs375141410
NM_001172509.2(SATB2):c.844A>G (p.Ile282Val) rs1688735770
NM_001172509.2(SATB2):c.91G>A (p.Val31Met)
NM_001172509.2(SATB2):c.982G>T (p.Ala328Ser)
NM_001184880.2(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.2(PCDH19):c.661A>T (p.Thr221Ser)
NM_001190274.2(FBXO11):c.2083+20dup rs77079615
NM_001220.5(CAMK2B):c.*2+103dup rs149624128
NM_001220.5(CAMK2B):c.1791G>A (p.Pro597=) rs1127065
NM_001220.5(CAMK2B):c.582T>C (p.Pro194=) rs11542228
NM_001244008.2(KIF1A):c.1421+9C>T rs372601809
NM_001244008.2(KIF1A):c.1506C>T (p.His502=)
NM_001244008.2(KIF1A):c.1950-7del rs2125904899
NM_001244008.2(KIF1A):c.2022+17del
NM_001244008.2(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=) rs73102625
NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=) rs373045276
NM_001244008.2(KIF1A):c.3327G>A (p.Gln1109=) rs752843807
NM_001244008.2(KIF1A):c.363+15del
NM_001244008.2(KIF1A):c.363+16C>G rs7594569
NM_001244008.2(KIF1A):c.363+20C>G rs199804274
NM_001244008.2(KIF1A):c.364-11del
NM_001244008.2(KIF1A):c.364-11dup
NM_001244008.2(KIF1A):c.3915C>T (p.Asn1305=)
NM_001244008.2(KIF1A):c.4447C>T (p.Leu1483=)
NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln) rs537893174
NM_001244008.2(KIF1A):c.4783A>G (p.Met1595Val)
NM_001244008.2(KIF1A):c.4788C>T (p.Ser1596=)
NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp) rs202072706
NM_001244008.2(KIF1A):c.865-24CT[2] rs140674901
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110
NM_001303052.2(MYT1L):c.2775-37G>A rs7425544
NM_001303052.2(MYT1L):c.3033A>G (p.Gly1011=) rs6728368
NM_001321075.3(DLG4):c.30+18G>A
NM_001330574.2(ZNF711):c.-473GGC[10] rs758475553
NM_001330574.2(ZNF711):c.1368G>A (p.Met456Ile) rs200444579
NM_001347721.2(DYRK1A):c.10+5C>T
NM_001347721.2(DYRK1A):c.1012C>T (p.Leu338Phe)
NM_001347721.2(DYRK1A):c.1121A>G (p.His374Arg)
NM_001347721.2(DYRK1A):c.1508C>G (p.Ser503Trp) rs1555991126
NM_001347721.2(DYRK1A):c.1565C>T (p.Pro522Leu) rs2148651660
NM_001347721.2(DYRK1A):c.1645-3C>A
NM_001347721.2(DYRK1A):c.1645-7C>A rs1198926046
NM_001347721.2(DYRK1A):c.1693C>T (p.Pro565Ser) rs768231661
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys) rs1041691170
NM_001347721.2(DYRK1A):c.1803CCA[4] (p.His610del) rs760576043
NM_001347721.2(DYRK1A):c.1864A>G (p.Arg622Gly)
NM_001347721.2(DYRK1A):c.187C>A (p.Gln63Lys)
NM_001347721.2(DYRK1A):c.1898C>T (p.Thr633Ile)
NM_001347721.2(DYRK1A):c.1958C>T (p.Thr653Met)
NM_001347721.2(DYRK1A):c.2027T>A (p.Val676Glu)
NM_001347721.2(DYRK1A):c.208-34A>G rs201001986
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val) rs1601336491
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val) rs201958918
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu) rs201958918
NM_001347721.2(DYRK1A):c.2200G>C (p.Ala734Pro) rs1413667922
NM_001347721.2(DYRK1A):c.348C>G (p.Asp116Glu) rs150200258
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile) rs1297803457
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile) rs780200883
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln) rs1057175147
NM_001347721.2(DYRK1A):c.509G>A (p.Arg170His)
NM_001347721.2(DYRK1A):c.578T>C (p.Ile193Thr)
NM_001347721.2(DYRK1A):c.737G>A (p.Arg246Gln) rs2148612639
NM_001347721.2(DYRK1A):c.7A>G (p.Thr3Ala) rs2148427299
NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val) rs762466544
NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)
NM_001348323.3(TRIP12):c.1133+21del rs11373804
NM_001353921.2(ARHGEF9):c.1321+16G>T
NM_001353921.2(ARHGEF9):c.1322-10del
NM_001353921.2(ARHGEF9):c.1473C>A (p.Asp491Glu) rs374753195
NM_001353921.2(ARHGEF9):c.1548C>T (p.Ser516=)
NM_001353921.2(ARHGEF9):c.270C>T (p.His90=)
NM_001353921.2(ARHGEF9):c.30+10T>C
NM_001353921.2(ARHGEF9):c.583-13del
NM_001353921.2(ARHGEF9):c.781G>T (p.Ala261Ser) rs782497496
NM_001353921.2(ARHGEF9):c.816-12_816-11del rs781845457
NM_001356.5(DDX3X):c.42G>C (p.Gln14His) rs2147332861
NM_001367534.1(CAMK2G):c.696+49del rs67135801
NM_001371727.1(GABRB2):c.1040G>A (p.Ser347Asn) rs1753820203
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.1168A>C (p.Asn390His) rs1026621473
NM_001371727.1(GABRB2):c.1178T>C (p.Phe393Ser) rs2113389282
NM_001371727.1(GABRB2):c.1192-3C>T
NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)
NM_001371727.1(GABRB2):c.1386A>T (p.Gln462His) rs2113333435
NM_001371727.1(GABRB2):c.1501T>A (p.Phe501Ile) rs2113333244
NM_001371727.1(GABRB2):c.169+5T>C
NM_001371727.1(GABRB2):c.190A>G (p.Met64Val) rs2113486772
NM_001371727.1(GABRB2):c.238-14del rs539366743
NM_001371727.1(GABRB2):c.238-14dup rs539366743
NM_001371727.1(GABRB2):c.458+3C>T rs2113263600
NM_001371727.1(GABRB2):c.459A>G (p.Arg153=) rs2113114646
NM_001371727.1(GABRB2):c.542-32GT[7] rs141330383
NM_001371727.1(GABRB2):c.680-3T>C rs763357499
NM_001371727.1(GABRB2):c.70G>A (p.Ala24Thr)
NM_001371727.1(GABRB2):c.77+6T>A rs1760991511
NM_001371727.1(GABRB2):c.833-4del rs777633076
NM_001371727.1(GABRB2):c.833-4dup
NM_001371928.1(AHDC1):c.2726C>G (p.Pro909Arg) rs776465786
NM_001371928.1(AHDC1):c.2850G>A (p.Pro950=) rs151218177
NM_001371928.1(AHDC1):c.3104CCT[1] (p.Ser1036del) rs111827498
NM_001371928.1(AHDC1):c.3234_3242del (p.Thr1079_Ala1081del) rs754444655
NM_001371928.1(AHDC1):c.4254G>A (p.Lys1418=) rs547570973
NM_001374828.1(ARID1B):c.2137-3dup rs541477699
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=) rs752231248
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup) rs587779743
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=) rs745740327
NM_001376.5(DYNC1H1):c.962-15dup rs3830914
NM_001377265.1(MAPT):c.*3078=
NM_001378120.1(MBD5):c.1249A>G (p.Met417Val) rs1250224277
NM_001378120.1(MBD5):c.156A>G (p.Thr52=) rs796958008
NM_001378120.1(MBD5):c.1911G>T (p.Gly637=) rs772127604
NM_001378120.1(MBD5):c.2285A>G (p.His762Arg) rs2105641515
NM_001378120.1(MBD5):c.2416T>G (p.Ser806Ala) rs894958571
NM_001378120.1(MBD5):c.2519-10_2519-9del rs5835195
NM_001378120.1(MBD5):c.2519-9del rs5835195
NM_001378120.1(MBD5):c.2859C>A (p.Ile953=)
NM_001378120.1(MBD5):c.4358G>A (p.Gly1453Asp) rs1197271060
NM_001378120.1(MBD5):c.5113-6T>G rs2105294854
NM_001378120.1(MBD5):c.871A>G (p.Met291Val) rs1680681539
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1283-19dup
NM_001429.4(EP300):c.1283-6C>G
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
NM_001429.4(EP300):c.156A>G (p.Glu52=)
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn) rs547550163
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
NM_001429.4(EP300):c.1878+19dup
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
NM_001429.4(EP300):c.2053+18T>C
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.208A>G (p.Met70Val)
NM_001429.4(EP300):c.2131+24dup rs766192274
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
NM_001429.4(EP300):c.2505A>G (p.Val835=)
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3143-5_3143-4dup rs757931697
NM_001429.4(EP300):c.3143-6_3143-4dup
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.33T>A (p.Pro11=)
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.3996C>T (p.Thr1332=) rs142288817
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
NM_001429.4(EP300):c.63G>C (p.Pro21=)
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.750C>T (p.Pro250=)
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
NM_001429.4(EP300):c.963A>G (p.Gln321=)
NM_001543.5(NDST1):c.1846+23G>C rs2304063
NM_001543.5(NDST1):c.750A>G (p.Pro250=) rs2273234
NM_002025.4(AFF2):c.1558-78G>C rs16994868
NM_002139.4(RBMX):c.-1C>A rs2011584
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe) rs2152207244
NM_002397.5(MEF2C):c.1100+6C>G rs1759908843
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala) rs1194300256
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu) rs2152673396
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) rs1561821810
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.638-14dup rs754587449
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val) rs2152280607
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146
NM_002578.5(PAK3):c.*515del
NM_002578.5(PAK3):c.-492G>A rs751584564
NM_003070.5(SMARCA2):c.*324G>C rs550337302
NM_003070.5(SMARCA2):c.2991+10G>A rs17712152
NM_003070.5(SMARCA2):c.3079-25T>A rs10738570
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4199+46C>T rs2274095
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=) rs543880790
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.517C>T (p.Pro173Ser) rs768229159
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=) rs776649185
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=) rs574844383
NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=) rs550796495
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=) rs567283924
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_003620.4(PPM1D):c.1262C>A (p.Ser421Ter)
NM_003754.3(EIF3F):c.*24C>T rs15879
NM_004068.4(AP2M1):c.340+56G>A rs2231217
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
NM_004380.3(CREBBP):c.1941+18G>A
NM_004380.3(CREBBP):c.1942-17A>G
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser) rs886042430
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.4890+16G>A
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
NM_004586.3(RPS6KA3):c.1000-10del rs748680802
NM_004586.3(RPS6KA3):c.1000-19dup rs748680802
NM_004586.3(RPS6KA3):c.1026G>A (p.Pro342=)
NM_004586.3(RPS6KA3):c.1029A>G (p.Pro343=)
NM_004586.3(RPS6KA3):c.1103-10C>T
NM_004586.3(RPS6KA3):c.1219A>G (p.Ile407Val)
NM_004586.3(RPS6KA3):c.1248T>G (p.Ile416Met)
NM_004586.3(RPS6KA3):c.126+13T>C
NM_004586.3(RPS6KA3):c.1296C>T (p.Ser432=)
NM_004586.3(RPS6KA3):c.1353+13dup rs766402947
NM_004586.3(RPS6KA3):c.1353+5A>T
NM_004586.3(RPS6KA3):c.1446A>C (p.Val482=)
NM_004586.3(RPS6KA3):c.1483C>A (p.Leu495Ile)
NM_004586.3(RPS6KA3):c.1593C>T (p.His531=)
NM_004586.3(RPS6KA3):c.1662G>A (p.Pro554=)
NM_004586.3(RPS6KA3):c.1710G>A (p.Ala570=)
NM_004586.3(RPS6KA3):c.1842-7A>G
NM_004586.3(RPS6KA3):c.2022C>T (p.Leu674=)
NM_004586.3(RPS6KA3):c.2142G>A (p.Gln714=)
NM_004586.3(RPS6KA3):c.304T>C (p.Leu102=)
NM_004586.3(RPS6KA3):c.406+12C>A
NM_004586.3(RPS6KA3):c.406+13C>T
NM_004586.3(RPS6KA3):c.426G>A (p.Lys142=)
NM_004586.3(RPS6KA3):c.593+16A>G
NM_004586.3(RPS6KA3):c.594-10dup rs755566588
NM_004586.3(RPS6KA3):c.618C>T (p.His206=)
NM_004586.3(RPS6KA3):c.631+12del
NM_004586.3(RPS6KA3):c.631+12dup rs751517771
NM_004586.3(RPS6KA3):c.642A>G (p.Leu214=)
NM_004586.3(RPS6KA3):c.70-20G>A
NM_004586.3(RPS6KA3):c.845+10C>T
NM_004586.3(RPS6KA3):c.885G>A (p.Ala295=)
NM_004615.3(TSPAN7):c.-33_-31CCG[6] rs398124180
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
NM_005120.3(MED12):c.1101+14G>A
NM_005120.3(MED12):c.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln)
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
NM_005120.3(MED12):c.1485+6C>T rs565198403
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr) rs370812643
NM_005120.3(MED12):c.171C>T (p.Gly57=)
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2372-9C>T
NM_005120.3(MED12):c.2423-6C>T
NM_005120.3(MED12):c.2568C>T (p.Ile856=)
NM_005120.3(MED12):c.2685+20G>A
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
NM_005120.3(MED12):c.3355-11T>C
NM_005120.3(MED12):c.3355-14G>T
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.3426C>T (p.Leu1142=)
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
NM_005120.3(MED12):c.3567G>T (p.Gln1189His) rs2147804945
NM_005120.3(MED12):c.3691+9dup rs966516434
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
NM_005120.3(MED12):c.4527+18A>G
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
NM_005120.3(MED12):c.4727+17C>T
NM_005120.3(MED12):c.4806G>A (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.5025+20C>T
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
NM_005120.3(MED12):c.5749-11del rs2147830057
NM_005120.3(MED12):c.5749-15C>T
NM_005120.3(MED12):c.5827-15C>T
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6408+22del
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
NM_005120.3(MED12):c.6491-20T>C
NM_005120.3(MED12):c.751A>C (p.Arg251=)
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
NM_005120.3(MED12):c.846+6dup
NM_005120.3(MED12):c.954T>C (p.His318=)
NM_005120.3(MED12):c.958A>G (p.Ile320Val) rs781192327
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)
NM_005249.5(FOXG1):c.1003C>T (p.Pro335Ser)
NM_005249.5(FOXG1):c.1029C>T (p.Ser343=)
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.115C>T (p.His39Tyr)
NM_005249.5(FOXG1):c.1219G>C (p.Val407Leu) rs1287203413
NM_005249.5(FOXG1):c.1221C>T (p.Val407=)
NM_005249.5(FOXG1):c.1255C>T (p.Pro419Ser) rs2138662170
NM_005249.5(FOXG1):c.1381C>G (p.Pro461Ala) rs1881826897
NM_005249.5(FOXG1):c.1390A>G (p.Thr464Ala) rs1268719113
NM_005249.5(FOXG1):c.141CCA[6] (p.His57del) rs587783630
NM_005249.5(FOXG1):c.187C>T (p.Pro63Ser) rs1288532385
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup) rs761703699
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.209_232del (p.Gln70_Pro77del) rs794726920
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.209_235dup (p.Gln70_Pro78dup) rs587783634
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005249.5(FOXG1):c.241G>A (p.Ala81Thr) rs1240859292
NM_005249.5(FOXG1):c.256C>G (p.Gln86Glu) rs398124202
NM_005249.5(FOXG1):c.263G>C (p.Arg88Pro)
NM_005249.5(FOXG1):c.268G>T (p.Ala90Ser) rs906816341
NM_005249.5(FOXG1):c.310C>G (p.Leu104Val)
NM_005249.5(FOXG1):c.322C>T (p.Pro108Ser) rs1881790056
NM_005249.5(FOXG1):c.329C>A (p.Pro110Gln)
NM_005249.5(FOXG1):c.362C>G (p.Ala121Gly) rs2138660693
NM_005249.5(FOXG1):c.443G>C (p.Gly148Ala)
NM_005249.5(FOXG1):c.453C>G (p.Ala151=)
NM_005249.5(FOXG1):c.454G>T (p.Gly152Trp)
NM_005249.5(FOXG1):c.475G>A (p.Ala159Thr)
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.933G>A (p.Ser311=)
NM_005249.5(FOXG1):c.977G>A (p.Ser326Asn) rs748001255
NM_005249.5(FOXG1):c.991A>G (p.Thr331Ala)
NM_005334.3(HCFC1):c.1084+17C>T
NM_005334.3(HCFC1):c.1104C>G (p.Ala368=)
NM_005334.3(HCFC1):c.1131C>G (p.Thr377=)
NM_005334.3(HCFC1):c.1302A>G (p.Ala434=)
NM_005334.3(HCFC1):c.1338G>A (p.Thr446=)
NM_005334.3(HCFC1):c.1356C>T (p.Ala452=)
NM_005334.3(HCFC1):c.1377C>T (p.Thr459=)
NM_005334.3(HCFC1):c.1378A>G (p.Thr460Ala)
NM_005334.3(HCFC1):c.1413C>T (p.Ser471=)
NM_005334.3(HCFC1):c.1455T>C (p.Ala485=)
NM_005334.3(HCFC1):c.1498T>C (p.Leu500=)
NM_005334.3(HCFC1):c.1563C>T (p.Ala521=)
NM_005334.3(HCFC1):c.1645C>T (p.Leu549=)
NM_005334.3(HCFC1):c.1650C>T (p.Ala550=)
NM_005334.3(HCFC1):c.1668C>T (p.Thr556=)
NM_005334.3(HCFC1):c.1770A>C (p.Pro590=)
NM_005334.3(HCFC1):c.1833G>A (p.Lys611=)
NM_005334.3(HCFC1):c.1869C>T (p.Ser623=)
NM_005334.3(HCFC1):c.1881G>A (p.Thr627=)
NM_005334.3(HCFC1):c.1932C>T (p.Ala644=)
NM_005334.3(HCFC1):c.2028+18C>T
NM_005334.3(HCFC1):c.2055G>A (p.Ser685=)
NM_005334.3(HCFC1):c.2064G>A (p.Gln688=)
NM_005334.3(HCFC1):c.2073A>G (p.Pro691=)
NM_005334.3(HCFC1):c.2103G>A (p.Ala701=)
NM_005334.3(HCFC1):c.2295G>A (p.Thr765=)
NM_005334.3(HCFC1):c.2466C>G (p.Ala822=)
NM_005334.3(HCFC1):c.2496+18G>A
NM_005334.3(HCFC1):c.2497-9G>T
NM_005334.3(HCFC1):c.2517G>A (p.Pro839=)
NM_005334.3(HCFC1):c.2532C>T (p.Thr844=)
NM_005334.3(HCFC1):c.2577C>T (p.Pro859=)
NM_005334.3(HCFC1):c.2583C>T (p.Thr861=)
NM_005334.3(HCFC1):c.2592C>T (p.Ala864=) rs782757775
NM_005334.3(HCFC1):c.261C>T (p.Phe87=)
NM_005334.3(HCFC1):c.264G>A (p.Val88=)
NM_005334.3(HCFC1):c.2688G>A (p.Gly896=)
NM_005334.3(HCFC1):c.270C>T (p.Asp90=)
NM_005334.3(HCFC1):c.2727C>T (p.Pro909=)
NM_005334.3(HCFC1):c.273G>C (p.Gly91=)
NM_005334.3(HCFC1):c.2799C>T (p.Ala933=)
NM_005334.3(HCFC1):c.2820G>A (p.Ala940=)
NM_005334.3(HCFC1):c.2857-14G>C
NM_005334.3(HCFC1):c.2877G>A (p.Gln959=)
NM_005334.3(HCFC1):c.2892G>A (p.Thr964=)
NM_005334.3(HCFC1):c.2976C>T (p.Ala992=)
NM_005334.3(HCFC1):c.297G>C (p.Gly99=)
NM_005334.3(HCFC1):c.2991C>T (p.Ala997=)
NM_005334.3(HCFC1):c.3018T>C (p.Pro1006=) rs782300483
NM_005334.3(HCFC1):c.3063C>T (p.His1021=)
NM_005334.3(HCFC1):c.3144C>T (p.Phe1048=)
NM_005334.3(HCFC1):c.3192G>T (p.Val1064=)
NM_005334.3(HCFC1):c.3240C>T (p.Cys1080=)
NM_005334.3(HCFC1):c.3260C>G (p.Thr1087Ser)
NM_005334.3(HCFC1):c.3268ACCGCCACC[1] (p.1090TAT[1])
NM_005334.3(HCFC1):c.3327C>T (p.Cys1109=)
NM_005334.3(HCFC1):c.3354C>T (p.Asn1118=)
NM_005334.3(HCFC1):c.342+11C>T
NM_005334.3(HCFC1):c.3483C>T (p.Gly1161=)
NM_005334.3(HCFC1):c.348C>T (p.Ser116=)
NM_005334.3(HCFC1):c.3518C>T (p.Ala1173Val)
NM_005334.3(HCFC1):c.3519G>A (p.Ala1173=)
NM_005334.3(HCFC1):c.351G>A (p.Arg117=)
NM_005334.3(HCFC1):c.3564G>A (p.Ser1188=)
NM_005334.3(HCFC1):c.3567C>T (p.Ala1189=)
NM_005334.3(HCFC1):c.3666C>T (p.Ser1222=)
NM_005334.3(HCFC1):c.3708G>A (p.Ala1236=)
NM_005334.3(HCFC1):c.3717C>T (p.Thr1239=)
NM_005334.3(HCFC1):c.3718G>A (p.Ala1240Thr)
NM_005334.3(HCFC1):c.3734C>G (p.Ser1245Cys)
NM_005334.3(HCFC1):c.3758G>A (p.Arg1253His)
NM_005334.3(HCFC1):c.3774C>T (p.Cys1258=)
NM_005334.3(HCFC1):c.3775G>A (p.Glu1259Lys)
NM_005334.3(HCFC1):c.3795G>A (p.Ser1265=)
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.3852C>T (p.Thr1284=)
NM_005334.3(HCFC1):c.3891C>T (p.His1297=)
NM_005334.3(HCFC1):c.390C>T (p.Asn130=)
NM_005334.3(HCFC1):c.3933C>G (p.Gly1311=)
NM_005334.3(HCFC1):c.3981G>A (p.Thr1327=)
NM_005334.3(HCFC1):c.4005C>T (p.Thr1335=)
NM_005334.3(HCFC1):c.4035C>T (p.Pro1345=)
NM_005334.3(HCFC1):c.4116C>T (p.Ser1372=)
NM_005334.3(HCFC1):c.4134C>T (p.Pro1378=)
NM_005334.3(HCFC1):c.4135G>A (p.Asp1379Asn)
NM_005334.3(HCFC1):c.4142C>T (p.Thr1381Ile)
NM_005334.3(HCFC1):c.4158C>G (p.Thr1386=) rs782136932
NM_005334.3(HCFC1):c.4212C>T (p.Gly1404=)
NM_005334.3(HCFC1):c.4221G>A (p.Leu1407=)
NM_005334.3(HCFC1):c.429C>T (p.Ser143=)
NM_005334.3(HCFC1):c.4334-10G>A
NM_005334.3(HCFC1):c.4338C>T (p.Pro1446=)
NM_005334.3(HCFC1):c.4341A>G (p.Pro1447=)
NM_005334.3(HCFC1):c.4353C>T (p.Ser1451=)
NM_005334.3(HCFC1):c.4389C>T (p.Ser1463=)
NM_005334.3(HCFC1):c.4398C>T (p.Ile1466=)
NM_005334.3(HCFC1):c.4404C>T (p.Ser1468=)
NM_005334.3(HCFC1):c.4418C>T (p.Thr1473Met)
NM_005334.3(HCFC1):c.4419G>A (p.Thr1473=)
NM_005334.3(HCFC1):c.4425C>T (p.Thr1475=)
NM_005334.3(HCFC1):c.4437A>G (p.Thr1479=)
NM_005334.3(HCFC1):c.4455C>G (p.Thr1485=)
NM_005334.3(HCFC1):c.4470C>T (p.Ser1490=)
NM_005334.3(HCFC1):c.4476G>A (p.Pro1492=)
NM_005334.3(HCFC1):c.4485C>T (p.Gly1495=)
NM_005334.3(HCFC1):c.4498-7C>T
NM_005334.3(HCFC1):c.4535A>T (p.Gln1512Leu)
NM_005334.3(HCFC1):c.4596C>T (p.Ala1532=)
NM_005334.3(HCFC1):c.4617G>A (p.Gln1539=)
NM_005334.3(HCFC1):c.4629C>T (p.Leu1543=)
NM_005334.3(HCFC1):c.4632G>A (p.Pro1544=)
NM_005334.3(HCFC1):c.4636G>A (p.Ala1546Thr)
NM_005334.3(HCFC1):c.4638C>T (p.Ala1546=)
NM_005334.3(HCFC1):c.4659G>A (p.Gly1553=)
NM_005334.3(HCFC1):c.4671G>A (p.Ser1557=)
NM_005334.3(HCFC1):c.4686C>T (p.Ala1562=)
NM_005334.3(HCFC1):c.4728_4730del (p.Pro1577del)
NM_005334.3(HCFC1):c.4740C>T (p.Ser1580=)
NM_005334.3(HCFC1):c.4935C>T (p.Ala1645=)
NM_005334.3(HCFC1):c.4983C>T (p.Thr1661=)
NM_005334.3(HCFC1):c.4995G>A (p.Ala1665=)
NM_005334.3(HCFC1):c.5037C>T (p.Ala1679=)
NM_005334.3(HCFC1):c.507C>T (p.Tyr169=)
NM_005334.3(HCFC1):c.508C>T (p.Leu170=)
NM_005334.3(HCFC1):c.5113G>A (p.Ala1705Thr)
NM_005334.3(HCFC1):c.5118G>A (p.Gln1706=)
NM_005334.3(HCFC1):c.5166T>C (p.Ser1722=)
NM_005334.3(HCFC1):c.5201A>G (p.Asn1734Ser)
NM_005334.3(HCFC1):c.5217G>A (p.Thr1739=)
NM_005334.3(HCFC1):c.5249C>T (p.Thr1750Met)
NM_005334.3(HCFC1):c.525C>T (p.Ile175=)
NM_005334.3(HCFC1):c.5260+16C>T
NM_005334.3(HCFC1):c.5261-5C>T
NM_005334.3(HCFC1):c.5329G>A (p.Ala1777Thr)
NM_005334.3(HCFC1):c.5380-20G>A
NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) rs782769309
NM_005334.3(HCFC1):c.5517+20G>C
NM_005334.3(HCFC1):c.5550G>A (p.Gln1850=)
NM_005334.3(HCFC1):c.5553G>T (p.Leu1851=)
NM_005334.3(HCFC1):c.5619C>T (p.Gly1873=)
NM_005334.3(HCFC1):c.5655G>A (p.Thr1885=)
NM_005334.3(HCFC1):c.5703+18del
NM_005334.3(HCFC1):c.5724C>T (p.Leu1908=)
NM_005334.3(HCFC1):c.5772C>T (p.Ser1924=)
NM_005334.3(HCFC1):c.5829G>A (p.Pro1943=)
NM_005334.3(HCFC1):c.585C>G (p.Val195=)
NM_005334.3(HCFC1):c.5868C>T (p.Ser1956=)
NM_005334.3(HCFC1):c.5967G>A (p.Lys1989=)
NM_005334.3(HCFC1):c.6004+14G>T
NM_005334.3(HCFC1):c.6005-12C>G rs181583112
NM_005334.3(HCFC1):c.6005-12C>T rs181583112
NM_005334.3(HCFC1):c.6068+20C>T
NM_005334.3(HCFC1):c.6069-20T>C
NM_005334.3(HCFC1):c.6069-8C>T
NM_005334.3(HCFC1):c.6096C>T (p.Ala2032=)
NM_005334.3(HCFC1):c.703C>T (p.Leu235=)
NM_005334.3(HCFC1):c.713-12G>A
NM_005334.3(HCFC1):c.713-18C>T
NM_005334.3(HCFC1):c.750G>A (p.Val250=)
NM_005334.3(HCFC1):c.777G>A (p.Ser259=)
NM_005334.3(HCFC1):c.921G>A (p.Glu307=)
NM_005334.3(HCFC1):c.978C>T (p.Cys326=)
NM_005334.3(HCFC1):c.993C>T (p.Asn331=)
NM_005359.6(SMAD4):c.*1864C>A rs561442548
NM_005359.6(SMAD4):c.*1866A>G rs4940037
NM_005359.6(SMAD4):c.*5631AC[3] rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_005359.6(SMAD4):c.*5994A>C rs3819122
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005645.4(TAF13):c.-2G>A
NM_005765.3(ATP6AP2):c.132C>T (p.Asp44=)
NM_005765.3(ATP6AP2):c.534+10G>C rs758140053
NM_005883.3(APC2):c.4384A>C (p.Arg1462=) rs265273
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup) rs587779737
NM_006015.6(ARID1A):c.2252-97A>T rs113319329
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.4994-20G>C rs113553273
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del) rs753766136
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu) rs764060744
NM_006186.4(NR4A2):c.357G>T (p.Ser119=) rs797046133
NM_006516.4(SLC2A1):c.1011C>T (p.His337=) rs2229681
NM_006516.4(SLC2A1):c.1278+12del rs368437445
NM_006516.4(SLC2A1):c.1278+31_1278+32insCTCACCATTT rs2124446051
NM_006516.4(SLC2A1):c.588G>A (p.Pro196=) rs2229682
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006516.4(SLC2A1):c.679+7G>T rs13306757
NM_006618.5(KDM5B):c.2198+25dup rs3216061
NM_006618.5(KDM5B):c.3150C>G (p.Pro1050=) rs1141109
NM_006721.4(ADK):c.727-8del rs112610475
NM_006765.4(TUSC3):c.309-15C>G
NM_006765.4(TUSC3):c.87C>T (p.Leu29=) rs78626330
NM_006772.3(SYNGAP1):c.1195G>A (p.Ala399Thr)
NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala)
NM_006772.3(SYNGAP1):c.1326A>G (p.Lys442=) rs2151170276
NM_006772.3(SYNGAP1):c.1594A>C (p.Thr532Pro) rs2151172479
NM_006772.3(SYNGAP1):c.1677-16C>T rs572784864
NM_006772.3(SYNGAP1):c.1677-3del rs1381203371
NM_006772.3(SYNGAP1):c.1677-3dup rs1381203371
NM_006772.3(SYNGAP1):c.1729G>A (p.Ala577Thr)
NM_006772.3(SYNGAP1):c.1742G>A (p.Arg581Gln) rs1761010170
NM_006772.3(SYNGAP1):c.190-12del rs2151134386
NM_006772.3(SYNGAP1):c.1913+45_1913+59del rs572578854
NM_006772.3(SYNGAP1):c.196C>T (p.Pro66Ser)
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2014A>G (p.Thr672Ala)
NM_006772.3(SYNGAP1):c.2029A>T (p.Ser677Cys)
NM_006772.3(SYNGAP1):c.2116-3C>T rs2151183616
NM_006772.3(SYNGAP1):c.2214T>G (p.Ser738Arg) rs1243545018
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg) rs886868218
NM_006772.3(SYNGAP1):c.2291A>G (p.Asn764Ser)
NM_006772.3(SYNGAP1):c.2294+3G>A
NM_006772.3(SYNGAP1):c.2324G>C (p.Arg775Pro)
NM_006772.3(SYNGAP1):c.2350G>A (p.Ala784Thr) rs768267846
NM_006772.3(SYNGAP1):c.2578G>A (p.Val860Ile) rs1060503387
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2818G>C (p.Gly940Arg)
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) rs1038956173
NM_006772.3(SYNGAP1):c.2873A>C (p.His958Pro) rs1465908298
NM_006772.3(SYNGAP1):c.2909A>G (p.Glu970Gly)
NM_006772.3(SYNGAP1):c.3020G>A (p.Ser1007Asn)
NM_006772.3(SYNGAP1):c.3100C>G (p.Pro1034Ala)
NM_006772.3(SYNGAP1):c.311G>T (p.Arg104Leu)
NM_006772.3(SYNGAP1):c.3209G>A (p.Arg1070Lys) rs1561789828
NM_006772.3(SYNGAP1):c.3237C>G (p.Ser1079Arg) rs149779350
NM_006772.3(SYNGAP1):c.3290C>T (p.Pro1097Leu)
NM_006772.3(SYNGAP1):c.3293G>A (p.Ser1098Asn) rs1761118961
NM_006772.3(SYNGAP1):c.3305C>T (p.Ala1102Val)
NM_006772.3(SYNGAP1):c.3310C>T (p.Pro1104Ser)
NM_006772.3(SYNGAP1):c.3326T>C (p.Leu1109Pro)
NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del)
NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr) rs2151191254
NM_006772.3(SYNGAP1):c.3408+3A>G
NM_006772.3(SYNGAP1):c.3583-17G>A rs768465867
NM_006772.3(SYNGAP1):c.3638A>C (p.Asn1213Thr) rs761582251
NM_006772.3(SYNGAP1):c.3638A>G (p.Asn1213Ser) rs761582251
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu) rs1374327029
NM_006772.3(SYNGAP1):c.3929C>T (p.Thr1310Met)
NM_006772.3(SYNGAP1):c.3949G>A (p.Gly1317Ser)
NM_006772.3(SYNGAP1):c.3962C>A (p.Pro1321Gln) rs1761348954
NM_006772.3(SYNGAP1):c.3964G>C (p.Ala1322Pro) rs752321873
NM_006772.3(SYNGAP1):c.502C>T (p.His168Tyr) rs1777198561
NM_006772.3(SYNGAP1):c.603T>A (p.Asp201Glu)
NM_006772.3(SYNGAP1):c.667A>T (p.Thr223Ser) rs1435943982
NM_006772.3(SYNGAP1):c.694G>A (p.Ala232Thr) rs756789403
NM_006772.3(SYNGAP1):c.707C>T (p.Ala236Val) rs1166557922
NM_006772.3(SYNGAP1):c.819G>T (p.Glu273Asp) rs1256016634
NM_006772.3(SYNGAP1):c.865A>G (p.Met289Val)
NM_006772.3(SYNGAP1):c.892C>T (p.Pro298Ser)
NM_006772.3(SYNGAP1):c.927C>T (p.Gly309=)
NM_006950.3(SYN1):c.1056-14_1056-8del rs377385507
NM_006950.3(SYN1):c.144C>G (p.Thr48=)
NM_006950.3(SYN1):c.1821G>T (p.Ala607=)
NM_007118.4(TRIO):c.8162C>T (p.Pro2721Leu)
NM_007325.5(GRIA3):c.268+16757dup rs778944548
NM_007325.5(GRIA3):c.268+16762dup rs11452643
NM_007325.5(GRIA3):c.384dup (p.Phe129fs) rs2147282654
NM_007327.4(GRIN1):c.1075C>T (p.Arg359Cys)
NM_007327.4(GRIN1):c.1098C>G (p.Ile366Met) rs778196924
NM_007327.4(GRIN1):c.1099T>C (p.Tyr367His) rs2131279971
NM_007327.4(GRIN1):c.1168C>G (p.Arg390Gly) rs927186701
NM_007327.4(GRIN1):c.1198-3del rs762423431
NM_007327.4(GRIN1):c.1339+7GCGCGGGGCAGGGCGCGGG[3] rs761110882
NM_007327.4(GRIN1):c.1340-17C>A rs555815195
NM_007327.4(GRIN1):c.139A>T (p.Asn47Tyr) rs1347150317
NM_007327.4(GRIN1):c.1458A>G (p.Thr486=)
NM_007327.4(GRIN1):c.1605C>T (p.Tyr535=)
NM_007327.4(GRIN1):c.1632+17_1632+23del rs756425137
NM_007327.4(GRIN1):c.1865-13del rs772767449
NM_007327.4(GRIN1):c.1894C>T (p.Leu632=)
NM_007327.4(GRIN1):c.22A>C (p.Thr8Pro)
NM_007327.4(GRIN1):c.23C>T (p.Thr8Met)
NM_007327.4(GRIN1):c.2586G>A (p.Leu862=)
NM_007327.4(GRIN1):c.2614C>G (p.Pro872Ala) rs1833802873
NM_007327.4(GRIN1):c.742C>T (p.Leu248=)
NM_007327.4(GRIN1):c.793+23dup
NM_007327.4(GRIN1):c.879C>G (p.His293Gln) rs746040843
NM_007347.5(AP4E1):c.1316+44_1316+54del rs144809125
NM_007347.5(AP4E1):c.3096-57dup rs3840015
NM_013275.6(ANKRD11):c.-268GCC[5] rs953053004
NM_013275.6(ANKRD11):c.1019C>T (p.Thr340Met)
NM_013275.6(ANKRD11):c.1056C>T (p.Asp352=)
NM_013275.6(ANKRD11):c.1079C>T (p.Pro360Leu)
NM_013275.6(ANKRD11):c.111C>T (p.Thr37=)
NM_013275.6(ANKRD11):c.1254C>G (p.Val418=)
NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=) rs74033734
NM_013275.6(ANKRD11):c.130C>T (p.Arg44Cys)
NM_013275.6(ANKRD11):c.135C>T (p.Gly45=)
NM_013275.6(ANKRD11):c.141C>T (p.Gly47=)
NM_013275.6(ANKRD11):c.1671G>A (p.Pro557=)
NM_013275.6(ANKRD11):c.1674T>C (p.Ala558=)
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly) rs115797011
NM_013275.6(ANKRD11):c.190G>A (p.Ala64Thr)
NM_013275.6(ANKRD11):c.191C>T (p.Ala64Val)
NM_013275.6(ANKRD11):c.245G>A (p.Arg82Gln)
NM_013275.6(ANKRD11):c.249G>A (p.Lys83=)
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu) rs137894790
NM_013275.6(ANKRD11):c.3432G>A (p.Pro1144=)
NM_013275.6(ANKRD11):c.355C>T (p.Leu119Phe)
NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=) rs62000377
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln) rs1276607391
NM_013275.6(ANKRD11):c.3825C>T (p.Asp1275=)
NM_013275.6(ANKRD11):c.3880G>C (p.Glu1294Gln)
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=) rs143428884
NM_013275.6(ANKRD11):c.401A>G (p.Asp134Gly)
NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del) rs778347369
NM_013275.6(ANKRD11):c.4367T>C (p.Leu1456Pro)
NM_013275.6(ANKRD11):c.4442C>T (p.Ala1481Val)
NM_013275.6(ANKRD11):c.450G>A (p.Thr150=)
NM_013275.6(ANKRD11):c.458C>G (p.Ser153Cys)
NM_013275.6(ANKRD11):c.4912C>G (p.Pro1638Ala) rs113527563
NM_013275.6(ANKRD11):c.525C>T (p.Ala175=)
NM_013275.6(ANKRD11):c.540C>T (p.Asp180=)
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile) rs151288302
NM_013275.6(ANKRD11):c.544C>T (p.Arg182Trp)
NM_013275.6(ANKRD11):c.5464G>A (p.Asp1822Asn)
NM_013275.6(ANKRD11):c.580G>A (p.Val194Ile)
NM_013275.6(ANKRD11):c.5877C>T (p.Ala1959=)
NM_013275.6(ANKRD11):c.5908C>A (p.Pro1970Thr)
NM_013275.6(ANKRD11):c.5964C>T (p.Pro1988=)
NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=) rs542077760
NM_013275.6(ANKRD11):c.6079C>G (p.Leu2027Val)
NM_013275.6(ANKRD11):c.609G>A (p.Thr203=)
NM_013275.6(ANKRD11):c.612G>A (p.Ala204=)
NM_013275.6(ANKRD11):c.6336C>T (p.Leu2112=)
NM_013275.6(ANKRD11):c.642C>T (p.Tyr214=)
NM_013275.6(ANKRD11):c.649G>A (p.Ala217Thr)
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=) rs762643863
NM_013275.6(ANKRD11):c.6602C>T (p.Ala2201Val)
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser) rs201957371
NM_013275.6(ANKRD11):c.6828G>A (p.Pro2276=)
NM_013275.6(ANKRD11):c.6864C>T (p.Ala2288=)
NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly) rs576742682
NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val) rs576742682
NM_013275.6(ANKRD11):c.705C>T (p.Asp235=)
NM_013275.6(ANKRD11):c.717C>T (p.His239=)
NM_013275.6(ANKRD11):c.7407C>T (p.Tyr2469=)
NM_013275.6(ANKRD11):c.745-19G>A
NM_013275.6(ANKRD11):c.7471-17T>G
NM_013275.6(ANKRD11):c.7806+11C>T rs777198327
NM_013275.6(ANKRD11):c.7806+14G>A
NM_013275.6(ANKRD11):c.7806+82G>T rs2306632
NM_013275.6(ANKRD11):c.810G>A (p.Pro270=)
NM_013275.6(ANKRD11):c.833C>T (p.Thr278Met)
NM_013275.6(ANKRD11):c.843C>T (p.Asn281=) rs912859980
NM_013275.6(ANKRD11):c.867C>T (p.Tyr289=)
NM_013275.6(ANKRD11):c.876C>T (p.Ser292=)
NM_013275.6(ANKRD11):c.914C>T (p.Ala305Val)
NM_014271.4(IL1RAPL1):c.-302del rs779869307
NM_014795.4(ZEB2):c.*4845del rs201661554
NM_014795.4(ZEB2):c.1204G>A (p.Val402Ile)
NM_014795.4(ZEB2):c.1262G>C (p.Gly421Ala) rs2149877371
NM_014795.4(ZEB2):c.1291T>A (p.Ser431Thr) rs1267201464
NM_014795.4(ZEB2):c.1361A>T (p.Asn454Ile) rs1560607170
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp) rs886043609
NM_014795.4(ZEB2):c.1447A>G (p.Ile483Val)
NM_014795.4(ZEB2):c.1491A>C (p.Gln497His) rs200378546
NM_014795.4(ZEB2):c.1534G>T (p.Gly512Cys) rs141781307
NM_014795.4(ZEB2):c.1598T>C (p.Val533Ala)
NM_014795.4(ZEB2):c.1637A>T (p.Asp546Val)
NM_014795.4(ZEB2):c.1711A>G (p.Met571Val) rs2149877101
NM_014795.4(ZEB2):c.1879G>A (p.Val627Ile) rs1703275164
NM_014795.4(ZEB2):c.1897G>T (p.Ala633Ser) rs2149876991
NM_014795.4(ZEB2):c.1958A>G (p.Lys653Arg)
NM_014795.4(ZEB2):c.1966A>G (p.Met656Val)
NM_014795.4(ZEB2):c.1993A>G (p.Met665Val) rs1388932284
NM_014795.4(ZEB2):c.2119T>A (p.Ser707Thr) rs1244099058
NM_014795.4(ZEB2):c.2204C>T (p.Pro735Leu)
NM_014795.4(ZEB2):c.224G>A (p.Ser75Asn) rs1703745750
NM_014795.4(ZEB2):c.242G>C (p.Arg81Thr) rs1703745146
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr) rs1553961536
NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn) rs730881198
NM_014795.4(ZEB2):c.2494G>A (p.Ala832Thr) rs1573715635
NM_014795.4(ZEB2):c.2519G>A (p.Ser840Asn)
NM_014795.4(ZEB2):c.2537A>G (p.His846Arg)
NM_014795.4(ZEB2):c.2538T>A (p.His846Gln) rs557767273
NM_014795.4(ZEB2):c.2863T>C (p.Tyr955His)
NM_014795.4(ZEB2):c.2896C>T (p.Leu966Phe)
NM_014795.4(ZEB2):c.2951C>T (p.Ser984Phe) rs143474223
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.3201G>A (p.Ser1067=) rs730881180
NM_014795.4(ZEB2):c.32G>A (p.Arg11Gln) rs1476193985
NM_014795.4(ZEB2):c.3327C>A (p.Asn1109Lys) rs1288140327
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val) rs1360979536
NM_014795.4(ZEB2):c.3574G>T (p.Asp1192Tyr)
NM_014795.4(ZEB2):c.582A>C (p.Gln194His) rs918109625
NM_014795.4(ZEB2):c.593-18_593-17insTG rs776927209
NM_014795.4(ZEB2):c.593-27CT[5]
NM_014795.4(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014795.4(ZEB2):c.74-27_74-20dup rs748573164
NM_014795.4(ZEB2):c.74-3C>T rs984545941
NM_014795.4(ZEB2):c.807+3G>A rs144925893
NM_014795.4(ZEB2):c.807+3G>T rs144925893
NM_014795.4(ZEB2):c.807+8del rs1411186011
NM_014795.4(ZEB2):c.807+8dup rs1411186011
NM_014795.4(ZEB2):c.9G>A (p.Gln3=) rs149882004
NM_014795.4(ZEB2):c.9G>C (p.Gln3His) rs149882004
NM_014795.4:c.593-18_593-17insTG rs2149879288
NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
NM_015100.4(POGZ):c.1524-10T>G rs2274534
NM_015100.4(POGZ):c.1927-17del rs3831142
NM_015338.6(ASXL1):c.*90T>C rs2295763
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.6(ASXL1):c.57+19G>A rs200198574
NM_015443.4(KANSL1):c.*1328del rs71665335
NM_015443.4(KANSL1):c.*1354del rs67641084
NM_015443.4(KANSL1):c.*1520del rs67801660
NM_015443.4(KANSL1):c.*359_*360insAGAGGGC rs113448888
NM_015443.4(KANSL1):c.*885del rs5820607
NM_015443.4(KANSL1):c.-90+24CCT[3] rs143625699
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414
NM_015981.4(CAMK2A):c.1467-87A>T rs17712679
NM_016032.4(ZDHHC9):c.354G>C (p.Gln118His) rs1927947896
NM_016032.4(ZDHHC9):c.488-15C>G
NM_016032.4(ZDHHC9):c.488-19CT[3] rs762762877
NM_016032.4(ZDHHC9):c.621C>T (p.Ala207=)
NM_016032.4(ZDHHC9):c.674+10G>A
NM_016032.4(ZDHHC9):c.714C>T (p.Ser238=)
NM_016032.4(ZDHHC9):c.987A>C (p.Thr329=)
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
NM_016219.5(MAN1B1):c.1255-13del
NM_016219.5(MAN1B1):c.1567-18G>A
NM_016219.5(MAN1B1):c.31G>A (p.Ala11Thr)
NM_016219.5(MAN1B1):c.620+10G>A
NM_017635.5(KMT5B):c.544-19dup rs3832715
NM_017755.6(NSUN2):c.2279C>A (p.Pro760Gln) rs61744358
NM_018026.4(PACS1):c.1067G>A (p.Arg356His)
NM_018026.4(PACS1):c.1199+10C>G rs199906288
NM_018026.4(PACS1):c.1199+11dup
NM_018026.4(PACS1):c.1199+3G>A
NM_018026.4(PACS1):c.1216A>T (p.Met406Leu)
NM_018026.4(PACS1):c.1218G>A (p.Met406Ile)
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
NM_018026.4(PACS1):c.1286C>A (p.Thr429Asn) rs760985201
NM_018026.4(PACS1):c.1325C>G (p.Ser442Cys)
NM_018026.4(PACS1):c.1463C>T (p.Thr488Met)
NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg)
NM_018026.4(PACS1):c.1534C>T (p.Pro512Ser)
NM_018026.4(PACS1):c.1626+4C>A
NM_018026.4(PACS1):c.1804G>A (p.Val602Met)
NM_018026.4(PACS1):c.1910C>T (p.Ser637Phe)
NM_018026.4(PACS1):c.2108A>T (p.Gln703Leu)
NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser)
NM_018026.4(PACS1):c.2283C>T (p.Pro761=)
NM_018026.4(PACS1):c.2336C>T (p.Ser779Phe)
NM_018026.4(PACS1):c.2353A>G (p.Ser785Gly)
NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln) rs1855762487
NM_018026.4(PACS1):c.2374G>A (p.Ala792Thr)
NM_018026.4(PACS1):c.2450G>C (p.Gly817Ala) rs1855812873
NM_018026.4(PACS1):c.2455G>A (p.Val819Met)
NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg)
NM_018026.4(PACS1):c.2528C>T (p.Ala843Val)
NM_018026.4(PACS1):c.2698G>A (p.Val900Met)
NM_018026.4(PACS1):c.424G>A (p.Val142Ile) rs2134674046
NM_018026.4(PACS1):c.445-15T>C rs182977545
NM_018026.4(PACS1):c.534+3G>A rs2134698969
NM_018026.4(PACS1):c.661-5C>G rs79265330
NM_018026.4(PACS1):c.676A>C (p.Asn226His) rs1175983246
NM_018026.4(PACS1):c.731C>G (p.Pro244Arg)
NM_018026.4(PACS1):c.794C>G (p.Ser265Cys)
NM_018026.4(PACS1):c.897+16C>T
NM_018026.4(PACS1):c.897+9C>G rs184374266
NM_019023.5(PRMT7):c.1650+27A>C rs1868159
NM_019842.4(KCNQ5):c.204C>T (p.Leu68=) rs34821312
NM_020066.5(FMN2):c.162CGG[4] (p.Gly59del) rs71929261
NM_020066.5(FMN2):c.162del (p.Gly55fs) rs1572736047
NM_020699.4(GATAD2B):c.729+10C>G rs753734177
NM_020717.5(SHROOM4):c.3372_3383dup (p.Gln1125_Gln1128dup) rs201922875
NM_020717.5(SHROOM4):c.3393GGA[8] (p.Glu1151dup) rs143151534
NM_020987.5(ANK3):c.*19+88G>T rs2393603
NM_020987.5(ANK3):c.12686+49A>C rs10733757
NM_020987.5(ANK3):c.13066-62dup rs5785427
NM_020987.5(ANK3):c.1690-15dup rs34796699
NM_020987.5(ANK3):c.3045G>T (p.Thr1015=) rs3750800
NM_020987.5(ANK3):c.468C>G (p.Val156=) rs71495633
NM_021008.4(DEAF1):c.1504-40C>T rs7112962
NM_024528.4(NKAP):c.538+8T>A rs194308
NM_024528.4(NKAP):c.539-17A>T rs194307
NM_024528.4(NKAP):c.600ATC[1] (p.Ser202del) rs10577974
NM_024665.7(TBL1XR1):c.1417-12dup rs753561692
NM_024665.7(TBL1XR1):c.1417-16_1417-15dup rs753561692
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=) rs544818049
NM_024665.7(TBL1XR1):c.1519-21_1519-18del rs777937343
NM_024665.7(TBL1XR1):c.561-5dup
NM_024665.7(TBL1XR1):c.59-3dup
NM_024665.7(TBL1XR1):c.703-10del
NM_024665.7(TBL1XR1):c.865-20del rs1376809747
NM_024824.5(ZC3H14):c.1354+15A>G rs2297124
NM_024824.5(ZC3H14):c.2204+17_2204+41del rs571303442
NM_024989.4(PGAP1):c.1273-17dup rs3835877
NM_024989.4(PGAP1):c.1273-8del rs3835877
NM_024989.4(PGAP1):c.1553-15dup
NM_024989.4(PGAP1):c.2338-19C>T
NM_024989.4(PGAP1):c.807+13del
NM_024989.4(PGAP1):c.861-14_861-11del rs751306632
NM_024989.4(PGAP1):c.927+12dup rs1162737906
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_031206.7(LAS1L):c.1114G>A (p.Val372Ile) rs186130633
NM_031206.7(LAS1L):c.1209C>G (p.Leu403=)
NM_031206.7(LAS1L):c.1301-18T>A
NM_031206.7(LAS1L):c.1788TGATGAAGA[1] (p.596DDE[1]) rs766197666
NM_031206.7(LAS1L):c.1788TGA[1] (p.Asp597del) rs750470319
NM_031206.7(LAS1L):c.2061C>G (p.Pro687=)
NM_031206.7(LAS1L):c.362+20G>C
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_031466.8(TRAPPC9):c.-129_-109dup rs367682297
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
NM_080632.3(UPF3B):c.157-16T>G rs769285530
NM_080632.3(UPF3B):c.263+14_263+18dup
NM_080632.3(UPF3B):c.263+15_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+18del rs55712755
NM_080632.3(UPF3B):c.263+18dup rs55712755
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.370+20G>A
NM_080632.3(UPF3B):c.371-9del
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)
NM_138775.3(ALKBH8):c.772-72_772-71del rs5794554
NM_139058.3(ARX):c.1073+20G>A
NM_139058.3(ARX):c.1186C>A (p.Pro396Thr) rs776523818
NM_139058.3(ARX):c.1204G>A (p.Gly402Arg) rs2048682884
NM_139058.3(ARX):c.1272G>T (p.Pro424=) rs398124507
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1333C>T (p.Pro445Ser) rs2147320407
NM_139058.3(ARX):c.1345G>A (p.Gly449Ser) rs2147320401
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580
NM_139058.3(ARX):c.306GGC[8] (p.Ala114_Ala115del) rs387906492
NM_139058.3(ARX):c.306GGC[9] (p.Ala115del) rs387906492
NM_139058.3(ARX):c.421G>A (p.Gly141Ser) rs2048712606
NM_139058.3(ARX):c.433G>T (p.Ala145Ser) rs1438576250
NM_139058.3(ARX):c.441_455del (p.Ala151_Ala155del) rs750585274
NM_139058.3(ARX):c.441_464del (p.Ala148_Ala155del) rs398124510
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.11496-7dup
NM_152564.5(VPS13B):c.11745+15del rs1450725730
NM_152564.5(VPS13B):c.11746-10dup
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.148-11del
NM_152564.5(VPS13B):c.2013+9del rs2132597306
NM_152564.5(VPS13B):c.2208+9del rs2132624713
NM_152564.5(VPS13B):c.2209-4T>G rs201309214
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.2934+25dup rs770873113
NM_152564.5(VPS13B):c.3445+20dup
NM_152564.5(VPS13B):c.3667-14dup
NM_152564.5(VPS13B):c.413-12del
NM_152564.5(VPS13B):c.413-12dup
NM_152564.5(VPS13B):c.4633+22del rs756149542
NM_152564.5(VPS13B):c.4633+22dup rs756149542
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.5076+22del
NM_152564.5(VPS13B):c.5077-8del
NM_152564.5(VPS13B):c.5221-8dup rs2133931327
NM_152564.5(VPS13B):c.581-9del
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.6046+17del
NM_152564.5(VPS13B):c.6454+19del rs772522395
NM_152564.5(VPS13B):c.6455-4del rs398124337
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-5_6455-4dup
NM_152564.5(VPS13B):c.6658-13del
NM_152564.5(VPS13B):c.6658-13dup
NM_152564.5(VPS13B):c.6658-5dup
NM_152564.5(VPS13B):c.7051-13del
NM_152564.5(VPS13B):c.7429+14dup rs747441995
NM_152564.5(VPS13B):c.762+19dup rs770716174
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
NM_152564.5(VPS13B):c.7942-7dup
NM_152564.5(VPS13B):c.8446-5del rs760534492
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8792+24dup
NM_152564.5(VPS13B):c.8994+16del
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) rs757435621
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe) rs752763935
NM_152564.5(VPS13B):c.9742+13C>T rs112919682
NM_152564.5(VPS13B):c.9742+9dup
NM_153252.5(BRWD3):c.*265AC[4] rs35220611
NM_153252.5(BRWD3):c.*6331C>G rs11266586
NM_153252.5(BRWD3):c.-229C>T rs766658667
NM_153252.5(BRWD3):c.-239TC[6] rs545281823
NM_153252.5(BRWD3):c.-283CT[8] rs199953219
NM_153252.5(BRWD3):c.31+23dup rs200402115
NM_153252.5(BRWD3):c.3602+15A>C rs374172860
NM_153252.5(BRWD3):c.3865-119TA[9] rs3029738
NM_153252.5(BRWD3):c.592-47_592-45dup rs58601634
NM_171998.4(RAB39B):c.*1656= rs3105275
Single allele

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