NM_007254.4(PNKP):c.*15C>T
|
rs1050332
|
0.00609
|
NM_007254.4(PNKP):c.1522G>A (p.Glu508Lys)
|
rs146478958
|
0.00280
|
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=)
|
rs192354176
|
0.00272
|
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly)
|
rs191333060
|
0.00123
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu)
|
rs143108250
|
0.00073
|
NM_001130438.3(SPTAN1):c.5478+12G>A
|
rs41275900
|
0.00067
|
NM_001130438.3(SPTAN1):c.7309-15T>C
|
rs370705867
|
0.00067
|
NM_001130438.3(SPTAN1):c.7161-9C>T
|
rs187613754
|
0.00061
|
NM_007254.4(PNKP):c.188C>T (p.Ala63Val)
|
rs3739173
|
0.00047
|
NM_007254.4(PNKP):c.876A>G (p.Gly292=)
|
rs3739199
|
0.00033
|
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=)
|
rs34654141
|
0.00028
|
NM_007254.4(PNKP):c.671G>A (p.Arg224His)
|
rs199705876
|
0.00025
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_005249.5(FOXG1):c.456G>T (p.Gly152=)
|
rs587783637
|
0.00020
|
NM_001323289.2(CDKL5):c.283-13A>G
|
rs587783404
|
0.00011
|
NM_007254.4(PNKP):c.579-4G>A
|
rs371834726
|
0.00011
|
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala)
|
rs55803460
|
0.00010
|
NM_007254.4(PNKP):c.994C>T (p.Pro332Ser)
|
rs373922574
|
0.00010
|
NM_007254.4(PNKP):c.151+18T>G
|
rs55756709
|
0.00009
|
NM_001032221.6(STXBP1):c.1680C>T (p.Asn560=)
|
rs201809337
|
0.00005
|
NM_007254.4(PNKP):c.861G>C (p.Val287=)
|
rs75203375
|
0.00005
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_007254.4(PNKP):c.1126+9C>T
|
rs3739202
|
0.00004
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu)
|
rs267608440
|
0.00003
|
NM_001184880.2(PCDH19):c.1548C>T (p.Tyr516=)
|
rs587784295
|
0.00003
|
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=)
|
rs587784431
|
0.00001
|
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)
|
rs370304886
|
0.00001
|
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)
|
rs587784436
|
0.00001
|
NM_001130438.3(SPTAN1):c.3415-9G>T
|
rs199802986
|
0.00001
|
NM_001130438.3(SPTAN1):c.5149-10C>T
|
rs587784437
|
0.00001
|
NM_001130438.3(SPTAN1):c.6763-7C>T
|
rs587784439
|
0.00001
|
NM_001184880.2(PCDH19):c.2359C>T (p.Arg787Cys)
|
rs376390125
|
0.00001
|
NM_001184880.2(PCDH19):c.2742A>G (p.Gln914=)
|
rs61742914
|
0.00001
|
NM_001184880.2(PCDH19):c.686C>T (p.Thr229Ile)
|
rs587784298
|
0.00001
|
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala)
|
rs587783400
|
0.00001
|
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg)
|
rs398123694
|
0.00001
|
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs)
|
rs756942804
|
0.00001
|
NM_007254.4(PNKP):c.744+8T>C
|
rs587784370
|
0.00001
|
NM_000330.4(RS1):c.185-3100G>T
|
rs587783403
|
|
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)
|
rs876661151
|
|
NM_001032221.6(STXBP1):c.1029+1G>C
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)
|
rs587784455
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.714C>A (p.Asp238Glu)
|
rs587784456
|
|
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)
|
rs587784453
|
|
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs)
|
rs587784454
|
|
NM_001032221.6(STXBP1):c.87+2T>C
|
rs1554775960
|
|
NM_001040142.2(SCN2A):c.11C>G (p.Ser4Ter)
|
rs1553564144
|
|
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)
|
rs1553579225
|
|
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)
|
rs1553462134
|
|
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro)
|
rs797045943
|
|
NM_001110792.1:c.384_1164del
|
|
|
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs)
|
rs1557135418
|
|
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs)
|
rs1557135664
|
|
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter)
|
rs267608569
|
|
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs)
|
rs267608372
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs)
|
rs1557134720
|
|
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs)
|
rs267608600
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)
|
rs63094662
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)
|
rs61754432
|
|
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter)
|
rs61754437
|
|
NM_001110792.2(MECP2):c.251del (p.Pro84fs)
|
rs61754441
|
|
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs)
|
rs797045693
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.701_707dup (p.Met236fs)
|
rs797045695
|
|
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr)
|
rs267608513
|
|
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)
|
rs61749739
|
|
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs)
|
rs1557136493
|
|
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)
|
rs61749747
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.791del (p.Gly264fs)
|
rs61750232
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs)
|
rs797045694
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs)
|
rs1557136146
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.92dup (p.Leu33fs)
|
rs267608417
|
|
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs)
|
rs1557135666
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs)
|
rs1555762869
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs)
|
rs746790849
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys)
|
rs79650677
|
|
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln)
|
rs587784432
|
|
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=)
|
rs587784433
|
|
NM_001130438.3(SPTAN1):c.2438-13T>G
|
rs587784434
|
|
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser)
|
rs587784435
|
|
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr)
|
rs1048236
|
|
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile)
|
rs1129924
|
|
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly)
|
rs11543346
|
|
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=)
|
rs72758823
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)
|
rs1554769022
|
|
NM_001184880.2(PCDH19):c.1969C>T (p.Leu657Phe)
|
rs587784296
|
|
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)
|
rs796052836
|
|
NM_001184880.2(PCDH19):c.2975C>A (p.Ala992Glu)
|
rs371109150
|
|
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)
|
rs797045873
|
|
NM_001184880.2(PCDH19):c.497A>T (p.Tyr166Phe)
|
rs587784297
|
|
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)
|
rs587784299
|
|
NM_001184880.2(PCDH19):c.790G>T (p.Asp264Tyr)
|
rs587784300
|
|
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)
|
rs267608429
|
|
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter)
|
rs1555952015
|
|
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs)
|
rs587783398
|
|
NM_001323289.2(CDKL5):c.146-1G>A
|
rs587783399
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs)
|
rs1555952101
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs)
|
rs587783401
|
|
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)
|
rs267608647
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val)
|
rs587783402
|
|
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)
|
rs267608662
|
|
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)
|
rs267608663
|
|
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)
|
rs587783158
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)
|
rs267608497
|
|
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)
|
rs267608500
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)
|
rs587783405
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser)
|
rs267608532
|
|
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=)
|
rs587783407
|
|
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr)
|
rs1555225794
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val)
|
rs796053217
|
|
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu)
|
rs587780454
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_003159.2(CDKL5):c.65dupG
|
rs267608420
|
|
NM_004992.3(MECP2):c.1276_*113del299ins3
|
|
|
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
|
|
|
NM_004992.3(MECP2):c.943_1140del198ins6
|
|
|
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs)
|
rs587783629
|
|
NM_005249.5(FOXG1):c.170_179del (p.His57fs)
|
rs587783631
|
|
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del)
|
rs587783634
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)
|
rs587783635
|
|
NM_005249.5(FOXG1):c.298del (p.Gln100fs)
|
rs587783636
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly)
|
rs587783638
|
|
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser)
|
rs786204998
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005249.5(FOXG1):c.672C>G (p.Gly224=)
|
rs587783639
|
|
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu)
|
rs1064797186
|
|
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr)
|
rs1555321337
|
|
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)
|
rs587783640
|
|
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
|
rs587783641
|
|
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)
|
rs587783642
|
|
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys)
|
rs121913678
|
|
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser)
|
rs587783643
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
NM_007254.4(PNKP):c.1319C>G (p.Ala440Gly)
|
rs377688490
|
|
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1386+49_1387-33del
|
rs752902474
|
|
NM_007254.4(PNKP):c.1482C>A (p.Gly494=)
|
rs60279874
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.457T>C (p.Leu153=)
|
rs587784368
|
|
NM_007254.4(PNKP):c.666C>T (p.Ile222=)
|
rs587784369
|
|
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
|
|
|
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter)
|
rs1554295159
|
|
NM_172107.4(KCNQ2):c.1197del (p.Ser399fs)
|
rs587780365
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)
|
rs797045638
|
|