NM_001184880.2(PCDH19):c.1627C>T (p.Leu543=)
|
rs1953337
|
0.19198
|
NM_001184880.2(PCDH19):c.402C>A (p.Ile134=)
|
rs41300169
|
0.06912
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_001110556.2(FLNA):c.7553-18A>G
|
rs112682871
|
0.01979
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_031407.7(HUWE1):c.6031-4T>A
|
rs139283158
|
0.01245
|
NM_031407.7(HUWE1):c.99A>G (p.Gln33=)
|
rs61743595
|
0.01179
|
NM_031407.7(HUWE1):c.5716+5G>A
|
rs139135300
|
0.01175
|
NM_004187.5(KDM5C):c.564G>A (p.Lys188=)
|
rs61751437
|
0.01076
|
NM_001184880.2(PCDH19):c.1137C>T (p.Gly379=)
|
rs56277715
|
0.01073
|
NM_007363.5(NONO):c.154+11G>C
|
rs142366840
|
0.01069
|
NM_001394073.1(HS6ST2):c.975A>G (p.Ala325=)
|
rs143752287
|
0.01066
|
NM_001330360.2(POLA1):c.4356C>T (p.Tyr1452=)
|
rs11573531
|
0.00965
|
NM_001184880.2(PCDH19):c.81C>T (p.Tyr27=)
|
rs56307810
|
0.00942
|
NM_001184880.2(PCDH19):c.2469G>A (p.Leu823=)
|
rs61744561
|
0.00798
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_001356.5(DDX3X):c.104-10A>T
|
rs112766093
|
0.00708
|
NM_031407.7(HUWE1):c.963+18T>C
|
rs145428690
|
0.00694
|
NM_031407.7(HUWE1):c.10551G>T (p.Leu3517=)
|
rs61730217
|
0.00593
|
NM_031407.7(HUWE1):c.6030+20G>A
|
rs144140925
|
0.00590
|
NM_001039591.3(USP9X):c.3028-7A>G
|
rs115310559
|
0.00514
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_001330360.2(POLA1):c.1687-15C>T
|
rs11573348
|
0.00442
|
NM_004595.5(SMS):c.1026A>C (p.Ser342=)
|
rs61732077
|
0.00399
|
NM_001330360.2(POLA1):c.2267A>G (p.Lys756Arg)
|
rs2230928
|
0.00390
|
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile)
|
rs36095561
|
0.00385
|
NM_001110556.2(FLNA):c.882A>G (p.Thr294=)
|
rs184864998
|
0.00373
|
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu)
|
rs61731613
|
0.00368
|
NM_004586.3(RPS6KA3):c.213A>G (p.Leu71=)
|
rs56338023
|
0.00336
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001830.4(CLCN4):c.1758G>A (p.Val586=)
|
rs143437511
|
0.00287
|
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=)
|
rs76525703
|
0.00287
|
NM_005765.3(ATP6AP2):c.38-5T>C
|
rs190477001
|
0.00243
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser)
|
rs139691746
|
0.00214
|
NM_001110792.2(MECP2):c.933C>T (p.Thr311=)
|
rs61748423
|
0.00200
|
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=)
|
rs142496099
|
0.00176
|
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)
|
rs61748381
|
0.00150
|
NM_005765.3(ATP6AP2):c.1050T>C (p.Asp350=)
|
rs79790275
|
0.00141
|
NM_001123385.2(BCOR):c.4680G>A (p.Thr1560=)
|
rs146007249
|
0.00140
|
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr)
|
rs148262378
|
0.00135
|
NM_001110792.2(MECP2):c.246C>T (p.Ser82=)
|
rs61754439
|
0.00119
|
NM_001123385.2(BCOR):c.2423T>A (p.Leu808His)
|
rs151125150
|
0.00083
|
NM_001830.4(CLCN4):c.2030C>T (p.Thr677Met)
|
rs41297324
|
0.00083
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser)
|
rs200198847
|
0.00046
|
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu)
|
rs141145230
|
0.00045
|
NM_001123385.2(BCOR):c.409G>A (p.Val137Ile)
|
rs146403660
|
0.00042
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
NM_001110556.2(FLNA):c.3207+14G>A
|
rs200710010
|
0.00041
|
NM_001123385.2(BCOR):c.482C>T (p.Ala161Val)
|
rs142236686
|
0.00038
|
NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr)
|
rs145905162
|
0.00036
|
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_004606.5(TAF1):c.4698G>A (p.Arg1566=)
|
rs148007434
|
0.00033
|
NM_004606.5(TAF1):c.4754-4A>G
|
rs370696191
|
0.00029
|
NM_001356.5(DDX3X):c.1434G>A (p.Arg478=)
|
rs186110059
|
0.00026
|
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr)
|
rs201908251
|
0.00025
|
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met)
|
rs201603843
|
0.00022
|
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met)
|
rs267608572
|
0.00022
|
NM_001039591.3(USP9X):c.4163A>G (p.Asn1388Ser)
|
rs369178019
|
0.00019
|
NM_001184880.2(PCDH19):c.655C>T (p.Leu219=)
|
rs377627937
|
0.00018
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp)
|
rs148208753
|
0.00017
|
NM_001353921.2(ARHGEF9):c.1225A>G (p.Ile409Val)
|
rs56110425
|
0.00016
|
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=)
|
rs199540575
|
0.00015
|
NM_003491.4(NAA10):c.179+20G>A
|
rs199988253
|
0.00014
|
NM_004595.5(SMS):c.114G>A (p.Ser38=)
|
rs138924455
|
0.00014
|
NM_001330360.2(POLA1):c.4383C>T (p.Phe1461=)
|
rs150514156
|
0.00013
|
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)
|
rs201608537
|
0.00013
|
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=)
|
rs782570746
|
0.00011
|
NM_006950.3(SYN1):c.1372C>G (p.Gln458Glu)
|
rs372445055
|
0.00011
|
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu)
|
rs63390262
|
0.00010
|
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)
|
rs3810670
|
0.00010
|
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=)
|
rs367979917
|
0.00009
|
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=)
|
rs202158967
|
0.00009
|
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=)
|
rs782684339
|
0.00008
|
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp)
|
rs192609440
|
0.00007
|
NM_031206.7(LAS1L):c.1341A>G (p.Ala447=)
|
rs766767923
|
0.00007
|
NM_002547.3(OPHN1):c.1613A>G (p.Asp538Gly)
|
rs141368794
|
0.00006
|
NM_002547.3(OPHN1):c.2363G>A (p.Arg788Gln)
|
rs192628082
|
0.00006
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
NM_139058.3(ARX):c.1170C>T (p.Gly390=)
|
rs761632870
|
0.00006
|
NM_000489.6(ATRX):c.7432C>G (p.Pro2478Ala)
|
rs199543136
|
0.00005
|
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln)
|
rs145790362
|
0.00005
|
NM_001184880.2(PCDH19):c.3320G>A (p.Arg1107His)
|
rs200021840
|
0.00005
|
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly)
|
rs765914103
|
0.00005
|
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=)
|
rs758753633
|
0.00005
|
NM_006950.3(SYN1):c.1961G>A (p.Gly654Glu)
|
rs749342768
|
0.00005
|
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=)
|
rs61753970
|
0.00004
|
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)
|
rs61750239
|
0.00004
|
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser)
|
rs796052790
|
0.00004
|
NM_001330360.2(POLA1):c.3955A>G (p.Ile1319Val)
|
rs756416451
|
0.00004
|
NM_001830.4(CLCN4):c.1175A>G (p.Gln392Arg)
|
rs761118786
|
0.00004
|
NM_139058.3(ARX):c.1450C>T (p.Leu484Phe)
|
rs752649243
|
0.00004
|
NM_001008537.3(NEXMIF):c.2241C>A (p.Ser747Arg)
|
rs762464608
|
0.00003
|
NM_001032382.2(PQBP1):c.640C>T (p.Arg214Trp)
|
rs1467649797
|
0.00003
|
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His)
|
rs371368679
|
0.00003
|
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile)
|
rs782281134
|
0.00003
|
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His)
|
rs782275601
|
0.00003
|
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser)
|
rs140258520
|
0.00003
|
NM_005120.3(MED12):c.2849+14C>T
|
rs398124196
|
0.00003
|
NM_000489.6(ATRX):c.6887A>G (p.Asn2296Ser)
|
rs782274478
|
0.00002
|
NM_001079872.2(CUL4B):c.1309G>A (p.Ala437Thr)
|
rs757649304
|
0.00002
|
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr)
|
rs1489530369
|
0.00002
|
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys)
|
rs782454177
|
0.00002
|
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=)
|
rs782313331
|
0.00002
|
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser)
|
rs782400832
|
0.00002
|
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser)
|
rs786204313
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala)
|
rs61748427
|
0.00002
|
NM_001123385.2(BCOR):c.1078C>T (p.His360Tyr)
|
rs1313448533
|
0.00002
|
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=)
|
rs779629178
|
0.00002
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00002
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)
|
rs1294140756
|
0.00002
|
NM_016032.4(ZDHHC9):c.1001C>T (p.Ser334Leu)
|
rs748573163
|
0.00002
|
NM_000489.6(ATRX):c.2066A>G (p.Gln689Arg)
|
rs929951326
|
0.00001
|
NM_000489.6(ATRX):c.2782G>C (p.Glu928Gln)
|
rs797044792
|
0.00001
|
NM_000489.6(ATRX):c.3211G>A (p.Gly1071Arg)
|
rs143621153
|
0.00001
|
NM_001008537.3(NEXMIF):c.1813C>G (p.Pro605Ala)
|
rs747472111
|
0.00001
|
NM_001008537.3(NEXMIF):c.2508T>G (p.His836Gln)
|
rs1342098183
|
0.00001
|
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val)
|
rs782066542
|
0.00001
|
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met)
|
rs1603362434
|
0.00001
|
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile)
|
rs1297013254
|
0.00001
|
NM_001110556.2(FLNA):c.2316C>A (p.Val772=)
|
rs2067723075
|
0.00001
|
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile)
|
rs374130804
|
0.00001
|
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe)
|
rs1557178198
|
0.00001
|
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg)
|
rs3819330
|
0.00001
|
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr)
|
rs371677498
|
0.00001
|
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln)
|
rs782447567
|
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_001353921.2(ARHGEF9):c.442A>G (p.Ser148Gly)
|
rs1394345886
|
0.00001
|
NM_001830.4(CLCN4):c.2003T>C (p.Ile668Thr)
|
rs1924836688
|
0.00001
|
NM_004595.5(SMS):c.997G>C (p.Gly333Arg)
|
rs1200431087
|
0.00001
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1974+15C>T
|
rs186876895
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_007325.5(GRIA3):c.527C>T (p.Ala176Val)
|
rs764670975
|
0.00001
|
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe)
|
rs143599552
|
0.00001
|
NM_139058.3(ARX):c.187G>A (p.Ala63Thr)
|
rs769996976
|
0.00001
|
NM_139058.3(ARX):c.807C>T (p.Ala269=)
|
rs587783205
|
0.00001
|
NM_000489.6(ATRX):c.2388A>C (p.Lys796Asn)
|
rs1603220590
|
|
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val)
|
rs1569538741
|
|
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile)
|
rs1569536694
|
|
NM_000489.6(ATRX):c.4332AGA[1] (p.Glu1448del)
|
rs1356648720
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_001008537.3(NEXMIF):c.2524G>A (p.Glu842Lys)
|
rs2080106700
|
|
NM_001008537.3(NEXMIF):c.652C>T (p.Arg218Ter)
|
rs758719615
|
|
NM_001079872.2(CUL4B):c.847-10del
|
rs762094686
|
|
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=)
|
rs367878305
|
|
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val)
|
rs2148114467
|
|
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile)
|
rs1557178134
|
|
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=)
|
rs372874251
|
|
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe)
|
rs1557177690
|
|
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly)
|
rs2148110326
|
|
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=)
|
rs1026564714
|
|
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu)
|
rs61753014
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001123385.2(BCOR):c.2125G>A (p.Gly709Ser)
|
rs398124312
|
|
NM_001123385.2(BCOR):c.2423_2424delinsAC (p.Leu808His)
|
rs1569155643
|
|
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu)
|
rs201989363
|
|
NM_001184880.2(PCDH19):c.1804C>T (p.Arg602Ter)
|
rs1928365677
|
|
NM_001184880.2(PCDH19):c.2341del (p.Ile781fs)
|
rs1060502175
|
|
NM_001356.5(DDX3X):c.1171-8dup
|
rs747987697
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)
|
rs1135401800
|
|
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp)
|
rs80338758
|
|
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del)
|
rs757160341
|
|
NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)
|
rs112180170
|
|
NM_005634.3(SOX3):c.711_731del (p.Ala242_Ala248del)
|
rs776775669
|
|
NM_006517.5(SLC16A2):c.-114GGCAGC[4]
|
rs760787234
|
|
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val)
|
rs104894936
|
|
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)
|
rs2147833877
|
|
NM_007325.5(GRIA3):c.1125T>C (p.Tyr375=)
|
rs562407134
|
|
NM_020717.5(SHROOM4):c.3414delinsGGAG (p.Glu1151dup)
|
rs886044870
|
|
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)
|
rs1603379779
|
|
NM_031206.7(LAS1L):c.706A>G (p.Thr236Ala)
|
rs2069367677
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_080632.3(UPF3B):c.263+5_263+18dup
|
rs55712755
|
|
NM_080632.3(UPF3B):c.263+9_263+18dup
|
rs55712755
|
|
NM_139058.3(ARX):c.260G>C (p.Arg87Pro)
|
rs786203995
|
|
NM_139058.3(ARX):c.306GGC[4] (p.Ala110_Ala115del)
|
rs387906492
|
|
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
|
rs2147323593
|
|
NM_203475.3(PORCN):c.370C>T (p.Arg124Ter)
|
rs137852218
|
|