NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_152743.4(BRAT1):c.826G>A (p.Asp276Asn)
|
rs146546197
|
0.00070
|
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys)
|
rs138840581
|
0.00062
|
NM_152743.4(BRAT1):c.955G>A (p.Val319Ile)
|
rs140903769
|
0.00034
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)
|
rs200059198
|
0.00012
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_001365999.1(SZT2):c.670C>T (p.Arg224Trp)
|
rs930525688
|
0.00004
|
NM_001365999.1(SZT2):c.9866G>T (p.Gly3289Val)
|
rs371736872
|
0.00004
|
NM_001037.5(SCN1B):c.448+100G>T
|
rs779658201
|
0.00002
|
NM_001184880.2(PCDH19):c.1210A>G (p.Thr404Ala)
|
rs746891808
|
0.00002
|
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys)
|
rs1470650822
|
0.00001
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln)
|
rs751423380
|
0.00001
|
NM_001184880.2(PCDH19):c.1982A>C (p.Tyr661Ser)
|
rs1928354837
|
0.00001
|
NM_001205293.3(CACNA1E):c.2387C>T (p.Ala796Val)
|
rs1320817023
|
0.00001
|
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg)
|
rs267608631
|
0.00001
|
NM_001393504.1(MAST3):c.3853G>A (p.Glu1285Lys)
|
rs1414358056
|
0.00001
|
NM_002641.4(PIGA):c.1177A>G (p.Arg393Gly)
|
rs781095752
|
0.00001
|
NM_003705.5(SLC25A12):c.870G>C (p.Glu290Asp)
|
rs757002057
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro)
|
rs1018003807
|
0.00001
|
NM_016373.4(WWOX):c.500G>A (p.Arg167His)
|
rs377356629
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)
|
rs1057516116
|
0.00001
|
NC_000023.11:g.154031853_154031854ins77278664_77280319
|
|
|
NM_000810.4(GABRA5):c.902C>T (p.Thr301Met)
|
rs1595438268
|
|
NM_000812.4(GABRB1):c.1243G>C (p.Gly415Arg)
|
|
|
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser)
|
rs763319754
|
|
NM_000814.6(GABRB3):c.1340C>T (p.Ala447Val)
|
|
|
NM_000814.6(GABRB3):c.929T>G (p.Leu310Arg)
|
|
|
NM_001032221.6(STXBP1):c.1462-2A>C
|
|
|
NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.170-2A>G
|
rs1554776674
|
|
NM_001032221.6(STXBP1):c.1716C>G (p.Ile572Met)
|
|
|
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)
|
rs794727792
|
|
NM_001032221.6(STXBP1):c.37+2dup
|
rs1838431452
|
|
NM_001032221.6(STXBP1):c.386_393delinsATCTGA (p.Thr129fs)
|
|
|
NM_001032221.6(STXBP1):c.392C>T (p.Thr131Met)
|
rs2131455010
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.794+1G>A
|
rs1554777496
|
|
NM_001032221.6(STXBP1):c.795-1G>A
|
rs1554777708
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001040142.2(SCN2A):c.1318G>T (p.Glu440Ter)
|
|
|
NM_001040142.2(SCN2A):c.2189A>T (p.Tyr730Phe)
|
|
|
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His)
|
rs1057518048
|
|
NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del)
|
rs2105398203
|
|
NM_001040142.2(SCN2A):c.4903C>T (p.Arg1635Ter)
|
rs1064794730
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001040142.2(SCN2A):c.5644C>T (p.Arg1882Ter)
|
rs796053166
|
|
NM_001040142.2(SCN2A):c.5750G>A (p.Arg1917Lys)
|
rs2105403810
|
|
NM_001040142.2(SCN2A):c.606A>G (p.Ala202=)
|
rs2105244839
|
|
NM_001040142.2(SCN2A):c.718G>T (p.Ala240Ser)
|
rs1064795014
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)
|
rs2058143736
|
|
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys)
|
rs2057841267
|
|
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu)
|
rs1568493631
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly)
|
rs2056674575
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
|
|
|
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs)
|
rs2144493067
|
|
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)
|
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
NM_001127222.2(CACNA1A):c.979-3C>G
|
|
|
NM_001130438.3(SPTAN1):c.136T>C (p.Phe46Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1708G>A (p.Ala570Thr)
|
rs2131129868
|
|
NM_001130438.3(SPTAN1):c.2881G>A (p.Ala961Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn)
|
rs1697492585
|
|
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln)
|
rs121917918
|
|
NM_001165963.4(SCN1A):c.3837T>G (p.Tyr1279Ter)
|
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)
|
rs748090629
|
|
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met)
|
rs121917984
|
|
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)
|
rs267606933
|
|
NM_001184880.2(PCDH19):c.1682C>G (p.Pro561Arg)
|
rs796052819
|
|
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
|
|
|
NM_001184880.2(PCDH19):c.498C>G (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.619C>T (p.Arg207Ter)
|
rs796052802
|
|
NM_001205293.3(CACNA1E):c.2603A>G (p.Asp868Gly)
|
|
|
NM_001205293.3(CACNA1E):c.4165C>T (p.Arg1389Ter)
|
rs2102689215
|
|
NM_001205293.3(CACNA1E):c.4608C>T (p.Asn1536=)
|
rs2102718155
|
|
NM_001205293.3(CACNA1E):c.6581C>G (p.Pro2194Arg)
|
|
|
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
|
|
|
NM_001271.4(CHD2):c.2689G>A (p.Ala897Thr)
|
|
|
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del)
|
rs2053946125
|
|
NM_001271.4(CHD2):c.3937C>G (p.Arg1313Gly)
|
|
|
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
|
|
|
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
|
|
|
NM_001323289.2(CDKL5):c.1648C>T (p.Arg550Ter)
|
rs267608643
|
|
NM_001323289.2(CDKL5):c.456_457del (p.Cys152_Asp153delinsTer)
|
|
|
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)
|
rs863225066
|
|
NM_001323289.2(CDKL5):c.786C>A (p.Tyr262Ter)
|
rs1555951146
|
|
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe)
|
rs2138871696
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
|
|
|
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr)
|
rs2138739035
|
|
NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp)
|
rs1654050516
|
|
NM_001365999.1(SZT2):c.7735C>T (p.Gln2579Ter)
|
rs2153935815
|
|
NM_001367561.1(DOCK7):c.4243C>T (p.Arg1415Ter)
|
|
|
NM_001367561.1(DOCK7):c.453dup (p.Gly152fs)
|
|
|
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)
|
rs1553567473
|
|
NM_001382273.1(TNK2):c.3022C>T (p.Gln1008Ter)
|
|
|
NM_002641.4(PIGA):c.1087A>G (p.Ile363Val)
|
|
|
NM_002641.4(PIGA):c.98A>G (p.His33Arg)
|
rs797044924
|
|
NM_003359.4(UGDH):c.311C>T (p.Ala104Val)
|
rs1420419492
|
|
NM_003590.5(CUL3):c.578T>G (p.Leu193Ter)
|
rs2106220962
|
|
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
|
|
|
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser)
|
rs529298259
|
|
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
|
|
|
NM_004974.4(KCNA2):c.329C>T (p.Ser110Phe)
|
rs1649507829
|
|
NM_004975.4(KCNB1):c.1801G>A (p.Ala601Thr)
|
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
|
rs1555889130
|
|
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)
|
rs1984257387
|
|
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
|
|
|
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn)
|
rs767961672
|
|
NM_006160.4(NEUROD2):c.355T>C (p.Ser119Pro)
|
|
|
NM_006160.4(NEUROD2):c.517C>A (p.Leu173Ile)
|
|
|
NM_006178.4(NSF):c.1590_1592dup (p.Ser531_Asp532insSer)
|
rs2146261671
|
|
NM_006180.6(NTRK2):c.1438G>A (p.Gly480Ser)
|
|
|
NM_006306.4(SMC1A):c.1118A>G (p.Lys373Arg)
|
rs2146604633
|
|
NM_006586.5(CNPY3):c.592G>A (p.Val198Met)
|
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_006922.4(SCN3A):c.4484C>T (p.Ala1495Val)
|
|
|
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr)
|
rs1685095084
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1286_1287insTAAGC (p.Ser430fs)
|
|
|
NM_012479.4(YWHAG):c.395G>A (p.Arg132His)
|
rs1583981615
|
|
NM_014905.5(GLS):c.7C>T (p.Arg3Trp)
|
|
|
NM_015047.3(EMC1):c.2048G>A (p.Gly683Glu)
|
rs2151947387
|
|
NM_015047.3(EMC1):c.661C>T (p.Gln221Ter)
|
|
|
NM_015047.3(EMC1):c.698C>T (p.Ala233Val)
|
|
|
NM_015047.3(EMC1):c.820C>T (p.Pro274Ser)
|
|
|
NM_015076.5(CDK19):c.410A>T (p.Asp137Val)
|
|
|
NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala)
|
rs2128804901
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_015267.4(CUX2):c.1571C>T (p.Ala524Val)
|
|
|
NM_015267.4(CUX2):c.1945G>A (p.Asp649Asn)
|
|
|
NM_015267.4(CUX2):c.223-1G>A
|
|
|
NM_016373.4(WWOX):c.606-1778_792-2744del
|
|
|
NM_016373.4(WWOX):c.982_998del (p.Tyr328fs)
|
|
|
NM_020706.2(SCAF4):c.749del (p.Pro250fs)
|
rs2123578933
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_020822.3(KCNT1):c.2330G>C (p.Cys777Ser)
|
|
|
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser)
|
rs587777264
|
|
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del)
|
|
|
NM_020988.3(GNAO1):c.140G>A (p.Ser47Asn)
|
rs1596787821
|
|
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
|
|
|
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
|
|
|
NM_030948.6(PHACTR1):c.1454A>G (p.Asn485Ser)
|
rs2127468177
|
|
NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg)
|
|
|
NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln)
|
|
|
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg)
|
|
|
NM_033453.4(ITPA):c.*53C>T
|
|
|
NM_152268.4(PARS2):c.874T>C (p.Cys292Arg)
|
rs779085274
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.1787G>C (p.Gly596Ala)
|
rs2145497630
|
|
NM_172107.4(KCNQ2):c.2330_2331dup (p.Glu778fs)
|
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.793G>A (p.Ala265Thr)
|
rs794727740
|
|
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.829A>G (p.Thr277Ala)
|
|
|
NM_172107.4(KCNQ2):c.835G>A (p.Gly279Ser)
|
|
|
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
|
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|
NM_183381.3(RNF13):c.262A>T (p.Asn88Tyr)
|
|
|
NM_198503.5(KCNT2):c.3289G>A (p.Asp1097Asn)
|
|
|
NM_198503.5(KCNT2):c.433del (p.Ile145fs)
|
|
|
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val)
|
rs1060501888
|
|
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)
|
rs1194428749
|
|