|
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_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
|
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_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_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_015178.3(RHOBTB2):c.779T>C (p.Leu260Pro)
|
rs1018003807
|
0.00001
|
|
NM_016373.4(WWOX):c.500G>A (p.Arg167His)
|
rs377356629
|
0.00001
|
|
NM_172107.4(KCNQ2):c.1382A>C (p.Gln461Pro)
|
rs1057516116
|
0.00001
|
|
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_001040142.2(SCN2A):c.2189A>T (p.Tyr730Phe)
|
|
|
|
NM_001040142.2(SCN2A):c.5750G>A (p.Arg1917Lys)
|
rs2105403810
|
|
|
NM_001040142.2(SCN2A):c.606A>G (p.Ala202=)
|
rs2105244839
|
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
|
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.4328A>G (p.Asp1443Gly)
|
rs2056674575
|
|
|
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_001165963.4(SCN1A):c.1727G>A (p.Ser576Asn)
|
rs1697492585
|
|
|
NM_001165963.4(SCN1A):c.5634G>C (p.Glu1878Asp)
|
rs748090629
|
|
|
NM_001184880.2(PCDH19):c.475G>C (p.Gly159Arg)
|
|
|
|
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.2689G>A (p.Ala897Thr)
|
|
|
|
NM_001271.4(CHD2):c.4074G>T (p.Glu1358Asp)
|
|
|
|
NM_001271.4(CHD2):c.4964C>T (p.Pro1655Leu)
|
|
|
|
NM_001330260.2(SCN8A):c.3577C>T (p.Leu1193Phe)
|
rs2138871696
|
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
|
NM_001330260.2(SCN8A):c.5087T>G (p.Ile1696Ser)
|
|
|
|
NM_001365999.1(SZT2):c.5579G>A (p.Gly1860Asp)
|
rs1654050516
|
|
|
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_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.986A>G (p.Asn329Ser)
|
rs1984257387
|
|
|
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.4484C>T (p.Ala1495Val)
|
|
|
|
NM_006922.4(SCN3A):c.4811T>C (p.Met1604Thr)
|
rs1685095084
|
|
|
NM_014905.5(GLS):c.7C>T (p.Arg3Trp)
|
|
|
|
NM_015047.3(EMC1):c.2048G>A (p.Gly683Glu)
|
rs2151947387
|
|
|
NM_015047.3(EMC1):c.698C>T (p.Ala233Val)
|
|
|
|
NM_015047.3(EMC1):c.820C>T (p.Pro274Ser)
|
|
|
|
NM_015178.3(RHOBTB2):c.1216A>G (p.Thr406Ala)
|
rs2128804901
|
|
|
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_020822.3(KCNT1):c.2330G>C (p.Cys777Ser)
|
|
|
|
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
|
|
|
|
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.1787G>C (p.Gly596Ala)
|
rs2145497630
|
|
|
NM_172107.4(KCNQ2):c.856C>G (p.Gln286Glu)
|
|
|
|
NM_183381.3(RNF13):c.262A>T (p.Asn88Tyr)
|
|
|
|
NM_198503.5(KCNT2):c.3289G>A (p.Asp1097Asn)
|
|
|
|
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)
|
rs1194428749
|
|