NM_001040142.2(SCN2A):c.1269G>A (p.Val423=)
|
rs139815570
|
0.00662
|
NM_004204.5(PIGQ):c.350C>T (p.Ala117Val)
|
rs111753944
|
0.00508
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
NM_021072.4(HCN1):c.140G>T (p.Gly47Val)
|
rs544994462
|
0.00362
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe)
|
rs28390202
|
0.00270
|
NM_007254.4(PNKP):c.416G>A (p.Arg139His)
|
rs34472250
|
0.00185
|
NM_001130438.3(SPTAN1):c.3720-5T>G
|
rs200543425
|
0.00180
|
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=)
|
rs140279996
|
0.00175
|
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys)
|
rs141399869
|
0.00163
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_015267.4(CUX2):c.4108G>A (p.Gly1370Arg)
|
rs143575822
|
0.00124
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)
|
rs145833100
|
0.00079
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met)
|
rs142220309
|
0.00068
|
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=)
|
rs146300431
|
0.00058
|
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala)
|
rs74533482
|
0.00057
|
NM_014334.4(FRRS1L):c.533T>C (p.Val178Ala)
|
rs148986846
|
0.00047
|
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys)
|
rs200415928
|
0.00046
|
NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln)
|
rs200443293
|
0.00038
|
NM_152743.4(BRAT1):c.431G>A (p.Gly144Asp)
|
rs199745325
|
0.00036
|
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del)
|
rs780584405
|
0.00027
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00027
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
NM_173354.5(SIK1):c.1246-5C>T
|
rs371389145
|
0.00019
|
NM_001040142.2(SCN2A):c.5753G>A (p.Arg1918His)
|
rs201718767
|
0.00015
|
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His)
|
rs185957513
|
0.00015
|
NM_020822.3(KCNT1):c.2595-9C>T
|
rs369966222
|
0.00015
|
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)
|
rs149315236
|
0.00014
|
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser)
|
rs150241349
|
0.00012
|
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys)
|
rs139899756
|
0.00011
|
NM_001365999.1(SZT2):c.4892C>T (p.Thr1631Met)
|
rs201312287
|
0.00009
|
NM_004975.4(KCNB1):c.1266G>C (p.Glu422Asp)
|
rs755843579
|
0.00009
|
NM_001958.5(EEF1A2):c.183C>T (p.Asp61=)
|
rs147929770
|
0.00008
|
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys)
|
rs920545433
|
0.00007
|
NM_001165963.4(SCN1A):c.1803C>T (p.Asn601=)
|
rs139403702
|
0.00006
|
NM_001365999.1(SZT2):c.8556A>C (p.Thr2852=)
|
rs201027552
|
0.00006
|
NM_001367561.1(DOCK7):c.4867A>G (p.Ile1623Val)
|
rs200800312
|
0.00006
|
NM_020822.3(KCNT1):c.2674G>A (p.Glu892Lys)
|
rs376757326
|
0.00006
|
NM_031844.3(HNRNPU):c.1319C>A (p.Ala440Asp)
|
rs373039242
|
0.00006
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr)
|
rs755962326
|
0.00005
|
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln)
|
rs76962261
|
0.00004
|
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=)
|
rs968327265
|
0.00004
|
NM_006922.4(SCN3A):c.4236A>G (p.Gln1412=)
|
rs551837418
|
0.00004
|
NM_020822.3(KCNT1):c.1783C>T (p.Leu595Phe)
|
rs950983477
|
0.00004
|
NM_000814.6(GABRB3):c.969G>A (p.Glu323=)
|
rs77608123
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=)
|
rs138241682
|
0.00003
|
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)
|
rs372062686
|
0.00003
|
NM_001191061.2(SLC25A22):c.654G>A (p.Ala218=)
|
rs769899113
|
0.00003
|
NM_015192.4(PLCB1):c.890G>A (p.Arg297His)
|
rs775904184
|
0.00003
|
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=)
|
rs140367649
|
0.00003
|
NM_173354.5(SIK1):c.955C>T (p.Arg319Trp)
|
rs759268634
|
0.00003
|
NM_177550.5(SLC13A5):c.998G>A (p.Arg333Gln)
|
rs1379095103
|
0.00003
|
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=)
|
rs746824729
|
0.00002
|
NM_001371246.1(SCN2A):c.687T>C (p.Ser229=)
|
rs746904068
|
0.00002
|
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr)
|
rs1555321245
|
0.00002
|
NM_016373.4(WWOX):c.517-108243C>T
|
rs551189075
|
0.00002
|
NM_152296.5(ATP1A3):c.1176C>T (p.Thr392=)
|
rs1353417724
|
0.00002
|
NM_000834.5(GRIN2B):c.2011-8C>G
|
rs774971411
|
0.00001
|
NM_000834.5(GRIN2B):c.3118G>A (p.Gly1040Ser)
|
rs202222002
|
0.00001
|
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=)
|
rs201670483
|
0.00001
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
NM_001040142.2(SCN2A):c.2149+3A>C
|
rs1474808070
|
0.00001
|
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr)
|
rs961696023
|
0.00001
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro)
|
rs370477379
|
0.00001
|
NM_001271.4(CHD2):c.594G>C (p.Gln198His)
|
rs374064833
|
0.00001
|
NM_001330260.2(SCN8A):c.2139A>C (p.Glu713Asp)
|
rs1218269439
|
0.00001
|
NM_001330260.2(SCN8A):c.71A>G (p.Asn24Ser)
|
rs769269501
|
0.00001
|
NM_001367561.1(DOCK7):c.691C>G (p.Arg231Gly)
|
rs1254316274
|
0.00001
|
NM_003705.5(SLC25A12):c.67-6T>A
|
rs1302626614
|
0.00001
|
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)
|
rs1195818093
|
0.00001
|
NM_006922.4(SCN3A):c.4G>A (p.Ala2Thr)
|
rs772128810
|
0.00001
|
NM_007327.4(GRIN1):c.957G>A (p.Pro319=)
|
rs766888803
|
0.00001
|
NM_000836.4(GRIN2D):c.2695_2697delinsACC (p.Ala899Thr)
|
|
|
NM_000836.4(GRIN2D):c.3847C>T (p.Pro1283Ser)
|
|
|
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)
|
rs121917751
|
|
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys)
|
rs200138205
|
|
NM_001040142.2(SCN2A):c.4722C>A (p.Phe1574Leu)
|
rs1558884200
|
|
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe)
|
rs1569519563
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val)
|
rs587783138
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.991G>A (p.Val331Met)
|
rs1569548388
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6271G>A (p.Ala2091Thr)
|
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001127644.2(GABRA1):c.80G>A (p.Gly27Glu)
|
rs866861998
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.5263G>A (p.Asp1755Asn)
|
|
|
NM_001165963.4(SCN1A):c.602+1G>A
|
|
|
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=)
|
rs971048873
|
|
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)
|
rs1060502176
|
|
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg)
|
rs1567139944
|
|
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly)
|
rs1567140845
|
|
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter)
|
rs397514740
|
|
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs)
|
rs1569219331
|
|
NM_001330260.2(SCN8A):c.4282-10C>G
|
rs369145855
|
|
NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)
|
|
|
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
|
|
|
NM_001365536.1(SCN9A):c.4482A>G (p.Gln1494=)
|
rs1558945594
|
|
NM_001365999.1(SZT2):c.8276T>C (p.Leu2759Pro)
|
|
|
NM_001365999.1(SZT2):c.9640A>G (p.Lys3214Glu)
|
|
|
NM_001367561.1(DOCK7):c.3743T>C (p.Ile1248Thr)
|
|
|
NM_001958.5(EEF1A2):c.1286T>G (p.Met429Arg)
|
|
|
NM_001958.5(EEF1A2):c.532A>T (p.Ile178Phe)
|
rs765056369
|
|
NM_002641.4(PIGA):c.248T>C (p.Leu83Pro)
|
rs1569180063
|
|
NM_004204.5(PIGQ):c.1012C>G (p.Arg338Gly)
|
rs559762174
|
|
NM_004204.5(PIGQ):c.503C>T (p.Thr168Met)
|
rs771796362
|
|
NM_004204.5(PIGQ):c.880T>C (p.Ser294Pro)
|
rs2151045576
|
|
NM_004408.4(DNM1):c.1872C>T (p.Gly624=)
|
rs1367619284
|
|
NM_004975.4(KCNB1):c.2279C>A (p.Thr760Lys)
|
|
|
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr)
|
rs1594384127
|
|
NM_006922.4(SCN3A):c.5734A>C (p.Arg1912=)
|
rs1553517046
|
|
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met)
|
rs200611702
|
|
NM_007327.4(GRIN1):c.734A>T (p.Tyr245Phe)
|
rs893141433
|
|
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs)
|
rs1568577135
|
|
NM_015267.4(CUX2):c.4124C>T (p.Pro1375Leu)
|
|
|
NM_020708.5(SLC12A5):c.3193C>T (p.Arg1065Trp)
|
rs774675766
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=)
|
rs2131577612
|
|
NM_020822.3(KCNT1):c.3247G>C (p.Ala1083Pro)
|
rs917893164
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020988.3(GNAO1):c.723+9C>T
|
|
|
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup)
|
rs1485709375
|
|
NM_021072.4(HCN1):c.2019G>A (p.Leu673=)
|
rs767602409
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|
NM_031844.2(HNRNPU):c.2166_2167+1delAGG
|
rs575582638
|
|
NM_031844.3(HNRNPU):c.1368A>C (p.Glu456Asp)
|
rs1558187433
|
|
NM_139058.3(ARX):c.229G>A (p.Ala77Thr)
|
|
|
NM_152296.5(ATP1A3):c.1192+7G>A
|
rs374826826
|
|
NM_172107.4(KCNQ2):c.2030G>C (p.Arg677Pro)
|
rs1326189284
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)
|
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val)
|
rs200402559
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_198904.4(GABRG2):c.690C>A (p.Gly230=)
|
rs747988447
|
|