NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)
|
rs114755364
|
0.00326
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu)
|
rs146646020
|
0.00081
|
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His)
|
rs114371269
|
0.00044
|
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=)
|
rs201525976
|
0.00032
|
NM_001127644.2(GABRA1):c.-258T>C
|
rs183280626
|
0.00026
|
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile)
|
rs552582918
|
0.00019
|
NM_015047.3(EMC1):c.2455G>A (p.Ala819Thr)
|
rs371524055
|
0.00016
|
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)
|
rs563243550
|
0.00016
|
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala)
|
rs138497939
|
0.00015
|
NM_003705.5(SLC25A12):c.930+3dup
|
rs746487507
|
0.00014
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser)
|
rs766355858
|
0.00013
|
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser)
|
rs201963596
|
0.00011
|
NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp)
|
rs773708821
|
0.00011
|
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu)
|
rs774002673
|
0.00011
|
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln)
|
rs374546223
|
0.00009
|
NM_005045.4(RELN):c.4495G>C (p.Asp1499His)
|
rs200428576
|
0.00009
|
NM_006922.4(SCN3A):c.2391+3A>G
|
rs369416840
|
0.00009
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu)
|
rs369627050
|
0.00008
|
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)
|
rs115231482
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His)
|
rs374896394
|
0.00006
|
NM_001367561.1(DOCK7):c.692G>A (p.Arg231His)
|
rs757667036
|
0.00006
|
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln)
|
rs372361502
|
0.00006
|
NM_015213.4(DENND5A):c.2840A>G (p.Asn947Ser)
|
rs779865474
|
0.00006
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
NM_030948.6(PHACTR1):c.664+2178C>G
|
rs761790090
|
0.00006
|
NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter)
|
rs201199439
|
0.00005
|
NM_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
0.00005
|
NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=)
|
rs568763160
|
0.00005
|
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln)
|
rs149633993
|
0.00005
|
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met)
|
rs200031995
|
0.00005
|
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln)
|
rs777992018
|
0.00005
|
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys)
|
rs200835381
|
0.00005
|
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr)
|
rs745774658
|
0.00004
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys)
|
rs139028803
|
0.00004
|
NM_006180.6(NTRK2):c.25G>A (p.Gly9Arg)
|
rs1373336521
|
0.00004
|
NM_014334.4(FRRS1L):c.190G>C (p.Gly64Arg)
|
rs936685159
|
0.00004
|
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)
|
rs775542349
|
0.00004
|
NM_015047.3(EMC1):c.1632+2T>C
|
rs760060777
|
0.00004
|
NM_015213.4(DENND5A):c.2050A>G (p.Ser684Gly)
|
rs1377065655
|
0.00004
|
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met)
|
rs778801242
|
0.00004
|
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys)
|
rs751841577
|
0.00004
|
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe)
|
rs780875110
|
0.00004
|
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu)
|
rs375749415
|
0.00004
|
NM_020988.3(GNAO1):c.723+7070C>T
|
rs756529307
|
0.00004
|
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu)
|
rs765573579
|
0.00004
|
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr)
|
rs1971327716
|
0.00003
|
NM_001100913.3(PACS2):c.2647G>A (p.Ala883Thr)
|
rs367840030
|
0.00003
|
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr)
|
rs781968415
|
0.00003
|
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
|
rs1247949520
|
0.00003
|
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg)
|
rs796052803
|
0.00003
|
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln)
|
rs572047686
|
0.00003
|
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val)
|
rs746338306
|
0.00003
|
NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met)
|
rs762216794
|
0.00003
|
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr)
|
rs200699154
|
0.00003
|
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro)
|
rs756570347
|
0.00003
|
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly)
|
rs1360863995
|
0.00003
|
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg)
|
rs587783139
|
0.00002
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
NM_001148.6(ANK2):c.2384A>C (p.Asn795Thr)
|
rs769106499
|
0.00002
|
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)
|
rs1260685558
|
0.00002
|
NM_001278512.2(AP3B2):c.1379-6C>G
|
rs1030446693
|
0.00002
|
NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg)
|
rs758380489
|
0.00002
|
NM_001378457.1(DMXL2):c.7312C>T (p.Pro2438Ser)
|
rs142404836
|
0.00002
|
NM_001387690.1(KATNAL2):c.739C>T (p.His247Tyr)
|
rs1569106508
|
0.00002
|
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val)
|
rs371146552
|
0.00002
|
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg)
|
rs144257114
|
0.00002
|
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu)
|
rs768629864
|
0.00002
|
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln)
|
rs571757257
|
0.00002
|
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu)
|
rs1439404936
|
0.00002
|
NM_198904.4(GABRG2):c.108-3373G>A
|
rs1433555018
|
0.00002
|
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr)
|
rs755919316
|
0.00001
|
NM_000807.4(GABRA2):c.764T>C (p.Ile255Thr)
|
rs767460850
|
0.00001
|
NM_000810.4(GABRA5):c.1166C>T (p.Pro389Leu)
|
rs779089481
|
0.00001
|
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val)
|
rs1458368988
|
0.00001
|
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu)
|
rs754878801
|
0.00001
|
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile)
|
rs761726968
|
0.00001
|
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser)
|
rs1340140743
|
0.00001
|
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys)
|
rs758150597
|
0.00001
|
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met)
|
rs762251880
|
0.00001
|
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn)
|
rs756493732
|
0.00001
|
NM_001040142.2(SCN2A):c.970+6A>T
|
rs371629371
|
0.00001
|
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln)
|
rs762635516
|
0.00001
|
NM_001100913.3(PACS2):c.2263G>A (p.Val755Ile)
|
rs781913910
|
0.00001
|
NM_001100913.3(PACS2):c.827C>T (p.Ala276Val)
|
rs377732984
|
0.00001
|
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)
|
rs756562814
|
0.00001
|
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys)
|
rs2057741441
|
0.00001
|
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys)
|
rs773140619
|
0.00001
|
NM_001145358.2(SIN3A):c.1159G>A (p.Val387Met)
|
rs1010772312
|
0.00001
|
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His)
|
rs1055883888
|
0.00001
|
NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu)
|
rs377297262
|
0.00001
|
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His)
|
rs373971175
|
0.00001
|
NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met)
|
rs767620162
|
0.00001
|
NM_001205293.3(CACNA1E):c.4187G>A (p.Arg1396His)
|
rs776066299
|
0.00001
|
NM_001205293.3(CACNA1E):c.513-15449G>A
|
rs1649408073
|
0.00001
|
NM_001205293.3(CACNA1E):c.6901A>G (p.Asn2301Asp)
|
rs1662050689
|
0.00001
|
NM_001278512.2(AP3B2):c.360+7G>A
|
rs1469176151
|
0.00001
|
NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile)
|
rs769211538
|
0.00001
|
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp)
|
rs782001294
|
0.00001
|
NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu)
|
rs1026710468
|
0.00001
|
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile)
|
rs745970630
|
0.00001
|
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter)
|
rs1654854600
|
0.00001
|
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter)
|
rs1005930319
|
0.00001
|
NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys)
|
rs764177776
|
0.00001
|
NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu)
|
rs1791617298
|
0.00001
|
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His)
|
rs1459691759
|
0.00001
|
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr)
|
rs778585590
|
0.00001
|
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr)
|
rs956332291
|
0.00001
|
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr)
|
rs768937191
|
0.00001
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr)
|
rs1447311755
|
0.00001
|
NM_006160.4(NEUROD2):c.169C>T (p.Pro57Ser)
|
rs981371381
|
0.00001
|
NM_006852.6(TLK2):c.1648A>T (p.Met550Leu)
|
rs754747576
|
0.00001
|
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met)
|
rs762536754
|
0.00001
|
NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr)
|
rs1568659088
|
0.00001
|
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu)
|
rs763116781
|
0.00001
|
NM_015047.3(EMC1):c.464A>T (p.His155Leu)
|
rs752316981
|
0.00001
|
NM_015080.4(NRXN2):c.3410C>T (p.Thr1137Ile)
|
rs150390440
|
0.00001
|
NM_015178.3(RHOBTB2):c.1621G>A (p.Val541Met)
|
rs1328047091
|
0.00001
|
NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp)
|
rs767630251
|
0.00001
|
NM_015267.4(CUX2):c.1267C>G (p.Pro423Ala)
|
rs1381221552
|
0.00001
|
NM_015267.4(CUX2):c.1603C>T (p.Pro535Ser)
|
rs1365473132
|
0.00001
|
NM_015267.4(CUX2):c.1922G>A (p.Arg641His)
|
rs371998616
|
0.00001
|
NM_016188.5(ACTL6B):c.1225del (p.Ser409fs)
|
rs774562545
|
0.00001
|
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr)
|
rs1216919340
|
0.00001
|
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp)
|
rs772413215
|
0.00001
|
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile)
|
rs984557516
|
0.00001
|
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter)
|
rs368965952
|
0.00001
|
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser)
|
rs1336529060
|
0.00001
|
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His)
|
rs1055618053
|
0.00001
|
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val)
|
rs1381344367
|
0.00001
|
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser)
|
rs1360721056
|
0.00001
|
NM_172107.4(KCNQ2):c.1024-5C>T
|
rs762121418
|
0.00001
|
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser)
|
rs984632499
|
0.00001
|
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu)
|
rs868642147
|
0.00001
|
NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala)
|
rs972002974
|
0.00001
|
NM_183381.3(RNF13):c.613A>G (p.Lys205Glu)
|
rs771241791
|
0.00001
|
NM_198503.5(KCNT2):c.2674A>G (p.Met892Val)
|
rs1219046745
|
0.00001
|
NC_000009.12:g.73165555_73173279dup
|
|
|
NC_000015.10:g.51681311_51791472dup
|
|
|
NC_000016.10:g.77893032_78561479dup
|
|
|
NC_000020.11:g.49212886_49410642dup
|
|
|
NM_000807.4(GABRA2):c.76G>T (p.Val26Leu)
|
rs769353682
|
|
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys)
|
rs1892475061
|
|
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)
|
rs2140730286
|
|
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe)
|
rs2140696672
|
|
NM_000834.5(GRIN2B):c.1126-3C>T
|
rs1555112424
|
|
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser)
|
rs199935748
|
|
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn)
|
rs202133231
|
|
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu)
|
rs2147476513
|
|
NM_001009996.3(DALRD3):c.1225C>T (p.Arg409Cys)
|
rs1466251286
|
|
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro)
|
rs2131501072
|
|
NM_001032221.6(STXBP1):c.38-300C>T
|
rs2132435278
|
|
NM_001032221.6(STXBP1):c.576G>A (p.Arg192=)
|
rs752943575
|
|
NM_001040142.2(SCN2A):c.1058G>A (p.Cys353Tyr)
|
rs1697566111
|
|
NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu)
|
rs766530029
|
|
NM_001100913.3(PACS2):c.2315C>G (p.Pro772Arg)
|
rs1555415243
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001127222.2(CACNA1A):c.1199-7T>A
|
rs2145126181
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr)
|
rs2057414205
|
|
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu)
|
rs1476884019
|
|
NM_001127222.2(CACNA1A):c.3822+70A>G
|
rs1462524553
|
|
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu)
|
rs1417890059
|
|
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)
|
rs2144488387
|
|
NM_001127644.2(GABRA1):c.586T>C (p.Tyr196His)
|
rs2113414428
|
|
NM_001127644.2(GABRA1):c.781T>C (p.Cys261Arg)
|
rs2113446513
|
|
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr)
|
rs767301092
|
|
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe)
|
rs2132106592
|
|
NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn)
|
rs868778058
|
|
NM_001148.6(ANK2):c.9905C>G (p.Ser3302Cys)
|
rs2095969252
|
|
NM_001165963.4(SCN1A):c.-142G>A
|
rs2106003538
|
|
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro)
|
rs1697679015
|
|
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
|
rs1398374184
|
|
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter)
|
rs1553540342
|
|
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu)
|
rs1553524977
|
|
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met)
|
rs121917914
|
|
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr)
|
rs1887944313
|
|
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro)
|
rs2147537859
|
|
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp)
|
rs868762744
|
|
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr)
|
rs2147542235
|
|
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs)
|
rs1950523317
|
|
NM_001199107.2(TBC1D24):c.-116+125A>C
|
rs2141848023
|
|
NM_001199107.2(TBC1D24):c.1142+272T>C
|
rs2141874790
|
|
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs)
|
rs2141872119
|
|
NM_001205293.3(CACNA1E):c.1422A>T (p.Lys474Asn)
|
rs2102461555
|
|
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp)
|
rs1355669731
|
|
NM_001205293.3(CACNA1E):c.3160_3161dup (p.Cys1055fs)
|
rs2102558297
|
|
NM_001205293.3(CACNA1E):c.3235C>T (p.Pro1079Ser)
|
rs1007809575
|
|
NM_001205293.3(CACNA1E):c.3612+226A>G
|
rs1486716719
|
|
NM_001205293.3(CACNA1E):c.6664G>A (p.Ala2222Thr)
|
rs369634310
|
|
NM_001205293.3(CACNA1E):c.951+29674C>T
|
rs1654651595
|
|
NM_001205293.3(CACNA1E):c.[2253G>A;2255G>A]
|
|
|
NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile)
|
rs1750025322
|
|
NM_001271.4(CHD2):c.2189+8C>T
|
rs1486555733
|
|
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs)
|
rs2141839134
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu)
|
rs1172858416
|
|
NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser)
|
rs2151427966
|
|
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val)
|
rs2147139674
|
|
NM_001323289.2(CDKL5):c.745-3007_825+774del
|
|
|
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met)
|
rs2138748384
|
|
NM_001330260.2(SCN8A):c.2901+2T>C
|
rs2138863154
|
|
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp)
|
rs1565917769
|
|
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val)
|
rs2138868846
|
|
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)
|
rs1555226186
|
|
NM_001330260.2(SCN8A):c.3820-1G>T
|
rs1373881732
|
|
NM_001356.5(DDX3X):c.285-12T>A
|
rs2063865427
|
|
NM_001365999.1(SZT2):c.*1719del
|
rs776828656
|
|
NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser)
|
rs2153933426
|
|
NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp)
|
rs538720577
|
|
NM_001367561.1(DOCK7):c.389+2061A>G
|
rs2149688351
|
|
NM_001378457.1(DMXL2):c.358C>T (p.Pro120Ser)
|
rs2050187178
|
|
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr)
|
rs1440750558
|
|
NM_002830.4(PTPN4):c.2491C>A (p.Leu831Ile)
|
rs1679434397
|
|
NM_003491.4(NAA10):c.472-38C>G
|
rs2065158858
|
|
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)
|
rs1577059692
|
|
NM_004113.6(FGF12):c.125-3181A>G
|
rs1577367655
|
|
NM_004113.6(FGF12):c.14-47649A>G
|
rs2108776132
|
|
NM_004113.6(FGF12):c.145G>C (p.Val49Leu)
|
rs199832838
|
|
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn)
|
rs2108576388
|
|
NM_004341.5(CAD):c.3721del (p.Val1241fs)
|
rs2148080342
|
|
NM_004408.4(DNM1):c.2535-613C>T
|
rs1385389663
|
|
NM_004855.5(PIGB):c.795-1G>C
|
rs1163732372
|
|
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs)
|
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)
|
rs374232523
|
|
NM_005458.8(GABBR2):c.*1906T>C
|
rs1588081632
|
|
NM_005458.8(GABBR2):c.166C>G (p.Leu56Val)
|
rs1830933309
|
|
NM_005918.4(MDH2):c.899A>G (p.Glu300Gly)
|
rs2116708081
|
|
NM_006160.4(NEUROD2):c.211G>A (p.Ala71Thr)
|
rs537108143
|
|
NM_006180.6(NTRK2):c.1234A>G (p.Asn412Asp)
|
rs201342791
|
|
NM_006180.6(NTRK2):c.1870G>C (p.Val624Leu)
|
|
|
NM_006279.5(ST3GAL3):c.-31+9631T>C
|
rs1163915476
|
|
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His)
|
rs2082916829
|
|
NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr)
|
rs2060557128
|
|
NM_006922.4(SCN3A):c.-50-2312T>C
|
rs1690638367
|
|
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr)
|
rs2105833109
|
|
NM_007118.4(TRIO):c.8383T>C (p.Phe2795Leu)
|
rs944775553
|
|
NM_012479.4(YWHAG):c.80T>G (p.Met27Arg)
|
rs2115666932
|
|
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)
|
rs878853282
|
|
NM_014905.5(GLS):c.704A>G (p.Tyr235Cys)
|
rs112403775
|
|
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)
|
rs1553252938
|
|
NM_015076.5(CDK19):c.457-3T>C
|
rs2114758446
|
|
NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs)
|
rs1376454917
|
|
NM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg)
|
rs2128805194
|
|
NM_015178.3(RHOBTB2):c.978C>A (p.His326Gln)
|
rs559073741
|
|
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val)
|
rs138851178
|
|
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser)
|
rs202009902
|
|
NM_015213.4(DENND5A):c.2818G>A (p.Val940Ile)
|
rs1444738863
|
|
NM_015267.4(CUX2):c.137T>C (p.Ile46Thr)
|
rs371927310
|
|
NM_015267.4(CUX2):c.1481C>T (p.Pro494Leu)
|
rs2136373221
|
|
NM_015267.4(CUX2):c.3133C>T (p.Pro1045Ser)
|
rs759732385
|
|
NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys)
|
rs1803836293
|
|
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys)
|
rs199511589
|
|
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val)
|
rs2140716042
|
|
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu)
|
rs201935129
|
|
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys)
|
|
|
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp)
|
rs2140713261
|
|
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His)
|
|
|
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser)
|
rs1357977229
|
|
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr)
|
rs779840896
|
|
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val)
|
rs2140718561
|
|
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln)
|
|
|
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
|
|
|
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met)
|
rs901985864
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_020988.3(GNAO1):c.303+4852A>G
|
rs2143533711
|
|
NM_020988.3(GNAO1):c.304-19275T>C
|
rs1475730892
|
|
NM_021072.4(HCN1):c.1377+19834C>T
|
rs761223261
|
|
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu)
|
rs2111839334
|
|
NM_021072.4(HCN1):c.849+66420G>T
|
rs986310668
|
|
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs)
|
rs747316677
|
|
NM_022897.5(RANBP17):c.1710+75929A>G
|
rs2127639991
|
|
NM_030948.6(PHACTR1):c.1252G>T (p.Val418Phe)
|
rs756423380
|
|
NM_030948.6(PHACTR1):c.1393_1447+1del
|
rs1778054792
|
|
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met)
|
rs2127450867
|
|
NM_030948.6(PHACTR1):c.163A>G (p.Ile55Val)
|
rs928863874
|
|
NM_030948.6(PHACTR1):c.250+8924C>G
|
rs1427631629
|
|
NM_030948.6(PHACTR1):c.275C>T (p.Ala92Val)
|
rs767982489
|
|
NM_030948.6(PHACTR1):c.664+2260T>A
|
rs1322402598
|
|
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)
|
rs754216321
|
|
NM_032108.4(SEMA6B):c.1153T>C (p.Tyr385His)
|
rs1977288029
|
|
NM_057175.5(NAA15):c.55-2A>C
|
|
|
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)
|
rs779757878
|
|
NM_145314.3(UCMA):c.17_220+223del
|
rs2131608474
|
|
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser)
|
rs2091568246
|
|
NM_172107.4(KCNQ2):c.1763+1576T>G
|
rs62208003
|
|
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu)
|
rs770730662
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu)
|
rs140222760
|
|
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr)
|
rs1597676768
|
|
NM_198503.5(KCNT2):c.2680G>A (p.Asp894Asn)
|
rs1659588692
|
|
NM_198503.5(KCNT2):c.2831A>G (p.Tyr944Cys)
|
rs2147868112
|
|
NM_198904.4(GABRG2):c.1153-8C>G
|
rs771660227
|
|
NM_203446.3(SYNJ1):c.765G>C (p.Leu255Phe)
|
rs750608040
|
|