|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
0.00496
|
|
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu)
|
rs145980033
|
0.00420
|
|
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)
|
rs121908919
|
0.00180
|
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
|
NM_015192.4(PLCB1):c.3337-69G>A
|
rs45541432
|
0.00021
|
|
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)
|
rs373820739
|
0.00007
|
|
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His)
|
rs371217448
|
0.00006
|
|
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val)
|
rs544004654
|
0.00005
|
|
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser)
|
rs371816961
|
0.00004
|
|
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His)
|
rs373365707
|
0.00004
|
|
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn)
|
rs775962298
|
0.00003
|
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
|
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp)
|
rs750994724
|
0.00002
|
|
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu)
|
rs1064796396
|
0.00001
|
|
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln)
|
rs779199533
|
0.00001
|
|
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met)
|
rs769069833
|
0.00001
|
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
|
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys)
|
rs763256222
|
0.00001
|
|
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn)
|
rs746172968
|
0.00001
|
|
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys)
|
rs1448699021
|
0.00001
|
|
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter)
|
rs1337798545
|
0.00001
|
|
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys)
|
rs114994257
|
0.00001
|
|
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser)
|
rs1568810867
|
|
|
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser)
|
rs775749394
|
|
|
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)
|
rs1555401442
|
|
|
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del)
|
rs750710267
|
|
|
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del)
|
rs56717389
|
|
|
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser)
|
rs753556936
|
|
|
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup)
|
rs587783744
|
|
|
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup)
|
rs398123566
|
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
|
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu)
|
rs2054931821
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)
|
rs2054617959
|
|
|
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp)
|
rs1589203624
|
|
|
NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His)
|
rs776506065
|
|
|
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)
|
rs1574214734
|
|
|
NM_001165963.4(SCN1A):c.2416-1G>A
|
rs1553542421
|
|
|
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
|
rs1690003122
|
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
|
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu)
|
rs1567160905
|
|
|
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr)
|
rs1279388510
|
|
|
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter)
|
rs875989950
|
|
|
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs)
|
rs1555954737
|
|
|
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His)
|
rs775153972
|
|
|
NM_001378457.1(DMXL2):c.4784-1G>A
|
|
|
|
NM_001690.4(ATP6V1A):c.1720A>G (p.Met574Val)
|
|
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
|
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu)
|
rs587783638
|
|
|
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu)
|
rs1557042706
|
|
|
NM_005765.3(ATP6AP2):c.452T>C (p.Leu151Ser)
|
|
|
|
NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly)
|
rs1553340826
|
|
|
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala)
|
rs202157450
|
|
|
NM_006586.5(CNPY3):c.50TGC[14] (p.Leu25_Pro26insLeuLeuLeuLeuLeu)
|
|
|
|
NM_006772.3(SYNGAP1):c.1544G>A (p.Arg515His)
|
rs1294935709
|
|
|
NM_006772.3(SYNGAP1):c.1998G>C (p.Glu666Asp)
|
rs1561787401
|
|
|
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter)
|
rs771849296
|
|
|
NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val)
|
rs1555786704
|
|
|
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)
|
rs886041766
|
|
|
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser)
|
rs1561081327
|
|
|
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter)
|
rs561672108
|
|
|
NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln)
|
rs1680938345
|
|
|
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)
|
rs779453109
|
|
|
NM_033453.4(ITPA):c.489-1G>T
|
|
|
|
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg)
|
rs2048682725
|
|
|
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del)
|
rs1562582216
|
|
|
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser)
|
rs1554300943
|
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|