NM_006593.4(TBR1):c.*10G>A
|
rs890076
|
0.75488
|
NM_000033.4(ABCD1):c.*8G>C
|
rs2229539
|
0.70012
|
NM_001032382.2(PQBP1):c.180-3C>T
|
rs741932
|
0.57792
|
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=)
|
rs1051375
|
0.57002
|
NM_006950.3(SYN1):c.510T>C (p.Asn170=)
|
rs1142636
|
0.39391
|
NM_002294.3(LAMP2):c.156A>T (p.Val52=)
|
rs12097
|
0.39324
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)
|
rs5030619
|
0.21992
|
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=)
|
rs216008
|
0.20673
|
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=)
|
rs1544514
|
0.16949
|
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=)
|
rs215976
|
0.08744
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=)
|
rs56180838
|
0.04572
|
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=)
|
rs72552065
|
0.04512
|
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=)
|
rs41276710
|
0.04216
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro)
|
rs35478150
|
0.03249
|
NM_001123385.2(BCOR):c.1791C>T (p.His597=)
|
rs144606152
|
0.03194
|
NM_000330.4(RS1):c.184+3207C>T
|
rs35693326
|
0.02951
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=)
|
rs73638274
|
0.02319
|
NM_002834.5(PTPN11):c.255C>T (p.His85=)
|
rs61736914
|
0.02271
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
NM_005120.3(MED12):c.2259G>A (p.Arg753=)
|
rs61752446
|
0.01916
|
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=)
|
rs3027928
|
0.01726
|
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)
|
rs56270948
|
0.01676
|
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg)
|
rs111298509
|
0.01614
|
NM_001324144.2(ZNF41):c.387A>G (p.Ser129=)
|
rs60022654
|
0.01604
|
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=)
|
rs34419050
|
0.01584
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_005765.3(ATP6AP2):c.285G>A (p.Ser95=)
|
rs34217273
|
0.01468
|
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala)
|
rs200533370
|
0.01462
|
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=)
|
rs74714098
|
0.01437
|
NM_006950.3(SYN1):c.912C>T (p.Ala304=)
|
rs62636605
|
0.01433
|
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=)
|
rs113869350
|
0.01399
|
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=)
|
rs74667788
|
0.01349
|
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)
|
rs187134574
|
0.01317
|
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=)
|
rs35986650
|
0.01258
|
NM_007137.5(ZNF81):c.8C>T (p.Ala3Val)
|
rs183846665
|
0.01206
|
NM_020717.5(SHROOM4):c.3147G>A (p.Met1049Ile)
|
rs61753876
|
0.01148
|
NM_001205019.2(GK):c.501C>T (p.Ala167=)
|
rs17854202
|
0.01121
|
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349
|
0.01002
|
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=)
|
rs11062316
|
0.00963
|
NM_000719.7(CACNA1C):c.771C>T (p.Val257=)
|
rs112315742
|
0.00908
|
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=)
|
rs80094872
|
0.00737
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)
|
rs113595214
|
0.00709
|
NM_001018113.3(FANCB):c.402A>G (p.Leu134=)
|
rs147260208
|
0.00701
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
NM_007137.5(ZNF81):c.129A>G (p.Arg43=)
|
rs148626389
|
0.00663
|
NM_002764.4(PRPS1):c.456A>G (p.Leu152=)
|
rs61735617
|
0.00632
|
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=)
|
rs140084263
|
0.00624
|
NM_005120.3(MED12):c.2886C>T (p.Ser962=)
|
rs34761462
|
0.00604
|
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=)
|
rs114139824
|
0.00585
|
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)
|
rs115216455
|
0.00556
|
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=)
|
rs188224114
|
0.00525
|
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=)
|
rs79970751
|
0.00503
|
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)
|
rs141441058
|
0.00470
|
NM_001110556.2(FLNA):c.663C>T (p.Pro221=)
|
rs2073470
|
0.00452
|
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=)
|
rs141478957
|
0.00451
|
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=)
|
rs139872789
|
0.00449
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_006306.4(SMC1A):c.*14C>T
|
rs112727682
|
0.00436
|
NM_016032.4(ZDHHC9):c.975C>T (p.Ser325=)
|
rs139619000
|
0.00414
|
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)
|
rs200361128
|
0.00403
|
NM_001190417.2(ZNF674):c.692A>G (p.Lys231Arg)
|
rs201621696
|
0.00400
|
NM_001372044.2:c.1116C>T (p.Ser372=)
|
rs201282170
|
0.00386
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_000266.4(NDP):c.*14G>A
|
rs73475744
|
0.00365
|
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met)
|
rs192749597
|
0.00353
|
NM_000330.4(RS1):c.184+3118C>T
|
rs139155110
|
0.00352
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_000330.4(RS1):c.184+3199G>A
|
rs36022183
|
0.00345
|
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser)
|
rs145110602
|
0.00343
|
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_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001324144.2(ZNF41):c.590A>G (p.Lys197Arg)
|
rs148585367
|
0.00296
|
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=)
|
rs34439033
|
0.00295
|
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser)
|
rs61749738
|
0.00291
|
NM_001205019.2(GK):c.748-5A>T
|
rs186543786
|
0.00284
|
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048
|
0.00279
|
NM_001123385.2(BCOR):c.408C>T (p.Ala136=)
|
rs139802143
|
0.00258
|
NM_020717.5(SHROOM4):c.509A>G (p.Tyr170Cys)
|
rs142052951
|
0.00258
|
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=)
|
rs3027927
|
0.00256
|
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=)
|
rs150392503
|
0.00253
|
NM_002578.5(PAK3):c.531G>A (p.Glu177=)
|
rs56270341
|
0.00239
|
NM_000330.4(RS1):c.184+3208G>A
|
rs150900695
|
0.00231
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=)
|
rs76337075
|
0.00219
|
NM_005120.3(MED12):c.1386G>T (p.Val462=)
|
rs186153976
|
0.00216
|
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=)
|
rs150844616
|
0.00210
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=)
|
rs116491041
|
0.00200
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853
|
0.00200
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_001363.5(DKC1):c.1456G>A (p.Gly486Arg)
|
rs150319104
|
0.00192
|
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=)
|
rs113380721
|
0.00191
|
NM_001110792.2(MECP2):c.618C>T (p.Ser206=)
|
rs61749711
|
0.00189
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_001324144.2(ZNF41):c.2215A>T (p.Ile739Leu)
|
rs145129774
|
0.00174
|
NM_001324144.2(ZNF41):c.1997C>T (p.Ala666Val)
|
rs144970008
|
0.00173
|
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)
|
rs183359489
|
0.00160
|
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=)
|
rs61752362
|
0.00157
|
NM_001379110.1(SLC9A6):c.*8A>T
|
rs200171451
|
0.00157
|
NM_020717.5(SHROOM4):c.1879C>T (p.Pro627Ser)
|
rs150861758
|
0.00151
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=)
|
rs200195310
|
0.00141
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001110556.2(FLNA):c.942A>G (p.Gly314=)
|
rs200763980
|
0.00138
|
NM_001110556.2(FLNA):c.7222G>A (p.Gly2408Ser)
|
rs201168500
|
0.00135
|
NM_007137.5(ZNF81):c.550C>G (p.Leu184Val)
|
rs113131552
|
0.00135
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_014271.4(IL1RAPL1):c.12G>A (p.Pro4=)
|
rs143600441
|
0.00127
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
NM_003179.3(SYP):c.877G>A (p.Gly293Ser)
|
rs139475570
|
0.00122
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=)
|
rs55923848
|
0.00109
|
NM_005333.5(HCCS):c.216G>C (p.Ala72=)
|
rs144152239
|
0.00106
|
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437
|
0.00104
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=)
|
rs143495349
|
0.00096
|
NM_001330574.2(ZNF711):c.453A>C (p.Gly151=)
|
rs139906124
|
0.00096
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
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_007325.5(GRIA3):c.397G>A (p.Ala133Thr)
|
rs151086692
|
0.00081
|
NM_001110792.2(MECP2):c.*9G>A
|
rs144008995
|
0.00080
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=)
|
rs200048692
|
0.00071
|
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser)
|
rs56102764
|
0.00069
|
NM_002764.4(PRPS1):c.447G>A (p.Pro149=)
|
rs80338730
|
0.00068
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_002294.3(LAMP2):c.339C>T (p.Ser113=)
|
rs147369153
|
0.00066
|
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=)
|
rs200835571
|
0.00065
|
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)
|
rs113239186
|
0.00063
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=)
|
rs146692150
|
0.00060
|
NM_001110556.2(FLNA):c.3876C>T (p.His1292=)
|
rs199917719
|
0.00060
|
NM_001110792.2(MECP2):c.411C>A (p.Ile137=)
|
rs146107517
|
0.00059
|
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
|
rs201488545
|
0.00056
|
NM_020717.5(SHROOM4):c.3504C>T (p.Thr1168=)
|
rs141453548
|
0.00056
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
NM_006950.3(SYN1):c.426A>G (p.Lys142=)
|
rs145911562
|
0.00054
|
NM_001324144.2(ZNF41):c.2114G>A (p.Arg705His)
|
rs144904486
|
0.00050
|
NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)
|
rs201825284
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=)
|
rs139108785
|
0.00047
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
NM_000719.7(CACNA1C):c.966C>T (p.His322=)
|
rs112539787
|
0.00042
|
NM_001110792.2(MECP2):c.870C>T (p.Ala290=)
|
rs61750248
|
0.00041
|
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser)
|
rs138991195
|
0.00039
|
NM_001330078.2(NRXN1):c.4392T>C (p.His1464=)
|
rs112536447
|
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_000719.7(CACNA1C):c.984C>T (p.Asn328=)
|
rs374050127
|
0.00029
|
NM_001110556.2(FLNA):c.5313+4C>T
|
rs377330443
|
0.00028
|
NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln)
|
rs146063801
|
0.00026
|
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=)
|
rs200283756
|
0.00023
|
NM_001110556.2(FLNA):c.237G>C (p.Ala79=)
|
rs200626788
|
0.00023
|
NM_001134407.3(GRIN2A):c.2202C>G (p.Val734=)
|
rs367543138
|
0.00023
|
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=)
|
rs151178361
|
0.00022
|
NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)
|
rs200511467
|
0.00021
|
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=)
|
rs61752980
|
0.00020
|
NM_006950.3(SYN1):c.939C>T (p.Asp313=)
|
rs373928763
|
0.00020
|
NM_001110556.2(FLNA):c.2845G>A (p.Val949Ile)
|
rs201656372
|
0.00018
|
NM_001110792.2(MECP2):c.429C>G (p.Ala143=)
|
rs61748385
|
0.00018
|
NM_014141.6(CNTNAP2):c.1480G>A (p.Glu494Lys)
|
rs149032771
|
0.00017
|
NM_014467.3(SRPX2):c.1221A>G (p.Gln407=)
|
rs375935170
|
0.00017
|
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=)
|
rs370735674
|
0.00015
|
NM_004595.5(SMS):c.505+3A>G
|
rs751807035
|
0.00015
|
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
|
rs376058351
|
0.00015
|
NM_001008537.3(NEXMIF):c.2951A>G (p.Asn984Ser)
|
rs375623451
|
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_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser)
|
rs375205247
|
0.00013
|
NM_001110792.2(MECP2):c.789C>T (p.Pro263=)
|
rs63582063
|
0.00013
|
NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)
|
rs375972461
|
0.00013
|
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu)
|
rs146251034
|
0.00013
|
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105
|
0.00012
|
NM_001110556.2(FLNA):c.1356C>T (p.Gly452=)
|
rs782437864
|
0.00011
|
NM_002834.5(PTPN11):c.558G>T (p.Arg186=)
|
rs200920312
|
0.00011
|
NM_203475.3(PORCN):c.453G>A (p.Ser151=)
|
rs375894841
|
0.00008
|
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=)
|
rs782615607
|
0.00007
|
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys)
|
rs781844419
|
0.00007
|
NM_005120.3(MED12):c.1167G>A (p.Lys389=)
|
rs374324656
|
0.00007
|
NM_000194.3(HPRT1):c.325C>A (p.Gln109Lys)
|
rs137852489
|
0.00006
|
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=)
|
rs377431864
|
0.00006
|
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=)
|
rs183948518
|
0.00006
|
NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)
|
rs376658420
|
0.00006
|
NM_001330078.2(NRXN1):c.4248G>A (p.Pro1416=)
|
rs151195816
|
0.00006
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
NM_001110556.2(FLNA):c.7067G>A (p.Ser2356Asn)
|
rs782739586
|
0.00005
|
NM_001184880.2(PCDH19):c.172G>T (p.Ala58Ser)
|
rs763745318
|
0.00005
|
NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)
|
rs199574770
|
0.00005
|
NM_181332.3(NLGN4X):c.1360G>A (p.Val454Met)
|
rs199525017
|
0.00005
|
NM_001244008.2(KIF1A):c.3487T>A (p.Ser1163Thr)
|
rs527346259
|
0.00004
|
NM_001278116.2(L1CAM):c.338G>A (p.Arg113His)
|
rs781908326
|
0.00004
|
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=)
|
rs140332992
|
0.00004
|
NM_006517.5(SLC16A2):c.1117G>A (p.Val373Met)
|
rs201039304
|
0.00004
|
NM_006950.3(SYN1):c.1321G>T (p.Ala441Ser)
|
rs772106134
|
0.00004
|
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser)
|
rs886049209
|
0.00003
|
NM_001244008.2(KIF1A):c.3617G>A (p.Arg1206Gln)
|
rs369849214
|
0.00003
|
NM_000381.4(MID1):c.250G>A (p.Asp84Asn)
|
rs374851071
|
0.00002
|
NM_001110556.2(FLNA):c.1314C>T (p.Gly438=)
|
rs372113435
|
0.00002
|
NM_001110556.2(FLNA):c.5275C>G (p.Pro1759Ala)
|
rs1382076574
|
0.00002
|
NM_001110556.2(FLNA):c.5661C>T (p.Thr1887=)
|
rs782253233
|
0.00002
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001244008.2(KIF1A):c.363+4C>T
|
rs770137926
|
0.00002
|
NM_001282531.3(ADNP):c.344A>G (p.Asn115Ser)
|
rs140023121
|
0.00002
|
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp)
|
rs746433521
|
0.00002
|
NM_003179.3(SYP):c.398G>A (p.Arg133Gln)
|
rs782047632
|
0.00002
|
NM_003611.3(OFD1):c.634C>T (p.Arg212Trp)
|
rs776834508
|
0.00002
|
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)
|
rs749588699
|
0.00001
|
NM_001110556.2(FLNA):c.5292C>T (p.Ala1764=)
|
rs1027131950
|
0.00001
|
NM_001110792.2(MECP2):c.898G>A (p.Val300Met)
|
rs782455664
|
0.00001
|
NM_001123385.2(BCOR):c.780C>T (p.Ser260=)
|
rs1430817668
|
0.00001
|
NM_001184880.2(PCDH19):c.2558T>C (p.Phe853Ser)
|
rs894617575
|
0.00001
|
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=)
|
rs370986597
|
0.00001
|
NM_001330078.2(NRXN1):c.3919G>A (p.Val1307Ile)
|
rs200044811
|
0.00001
|
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=)
|
rs374896287
|
0.00001
|
NM_004484.4(GPC3):c.1277A>G (p.Gln426Arg)
|
rs749874149
|
0.00001
|
NM_005634.3(SOX3):c.753G>C (p.Pro251=)
|
rs557384424
|
0.00001
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=)
|
rs149079962
|
|
NM_000202.8(IDS):c.542A>G (p.Asn181Ser)
|
rs1569560492
|
|
NM_000489.6(ATRX):c.5311G>C (p.Gly1771Arg)
|
rs1569531574
|
|
NM_000489.6(ATRX):c.5686A>G (p.Lys1896Glu)
|
rs1569528925
|
|
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr)
|
rs122445110
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)
|
rs1569510706
|
|
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
|
|
|
NM_001110792.2(MECP2):c.1193_1198del (p.Leu398_Pro399del)
|
rs1569548334
|
|
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)
|
rs267608388
|
|
NM_001110792.2(MECP2):c.785G>A (p.Arg262His)
|
rs61750227
|
|
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=)
|
rs17145652
|
|
NM_001123385.2(BCOR):c.3305T>G (p.Val1102Gly)
|
rs111622737
|
|
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)
|
rs752940775
|
|
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=)
|
rs750878642
|
|
NM_001330078.2(NRXN1):c.4405C>A (p.Arg1469=)
|
rs1331703447
|
|
NM_002294.3(LAMP2):c.576C>T (p.Asp192=)
|
rs1569369724
|
|
NM_002578.5(PAK3):c.276+5G>A
|
rs1569398792
|
|
NM_004463.3(FGD1):c.1556G>A (p.Arg519His)
|
rs398124157
|
|
NM_004463.3(FGD1):c.415C>T (p.Pro139Ser)
|
rs1569541278
|
|
NM_005120.3(MED12):c.3979C>A (p.Pro1327Thr)
|
rs1569481764
|
|
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)
|
rs757160341
|
|
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.6241CAG[5] (p.Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)
|
rs398124200
|
|
NM_006186.4(NR4A2):c.1576G>T (p.Glu526Ter)
|
rs2105591753
|
|
NM_006306.4(SMC1A):c.413G>A (p.Gly138Asp)
|
rs1569359134
|
|
NM_006766.5(KAT6A):c.3353-4A>G
|
rs762302738
|
|
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)
|
rs750049486
|
|
NM_012280.4(FTSJ1):c.205G>T (p.Gly69Cys)
|
rs782012239
|
|
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del)
|
rs371983878
|
|
NM_031466.8(TRAPPC9):c.-129_-109dup
|
rs367682297
|
|
NM_139058.3(ARX):c.1261C>A (p.Pro421Thr)
|
rs1417254985
|
|
NM_139058.3(ARX):c.441A>G (p.Ala147=)
|
rs797045301
|
|
NM_153252.5(BRWD3):c.1505G>A (p.Arg502Gln)
|
rs1569261916
|
|
NM_176787.5(PIGN):c.1117-1=
|
rs9959632
|
|