NM_000756.2(CRH):c.-669C>A
|
rs12721510
|
0.04273
|
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys)
|
rs187930476
|
0.01101
|
NM_001242896.3(DEPDC5):c.3265-3C>T
|
rs371377906
|
0.00108
|
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His)
|
rs376744360
|
0.00041
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)
|
rs143103435
|
0.00021
|
NM_000756.3(CRH):c.-365G>C
|
rs72556399
|
0.00021
|
NM_001242896.3(DEPDC5):c.1355C>T (p.Ala452Val)
|
rs202226316
|
0.00020
|
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro)
|
rs201312113
|
0.00019
|
NM_001242896.3(DEPDC5):c.3241A>C (p.Thr1081Pro)
|
rs142540948
|
0.00017
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)
|
rs201044262
|
0.00016
|
NM_001242896.3(DEPDC5):c.2591C>T (p.Thr864Met)
|
rs564667614
|
0.00014
|
NM_000756.4(CRH):c.89C>G (p.Pro30Arg)
|
rs748404250
|
0.00013
|
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)
|
rs369926953
|
0.00012
|
NM_000748.3(CHRNB2):c.1046T>C (p.Met349Thr)
|
rs141735618
|
0.00010
|
NM_198586.3(NHLRC1):c.205C>G (p.Pro69Ala)
|
rs28940576
|
0.00009
|
NM_001242896.3(DEPDC5):c.842A>T (p.Tyr281Phe)
|
rs200797928
|
0.00006
|
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
0.00006
|
NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg)
|
rs754608531
|
0.00005
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00004
|
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His)
|
rs281865563
|
0.00004
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
NM_000742.4(CHRNA2):c.883G>A (p.Glu295Lys)
|
rs139727115
|
0.00003
|
NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=)
|
rs121912279
|
0.00003
|
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe)
|
rs578244490
|
0.00003
|
NM_001242896.3(DEPDC5):c.4033+5A>G
|
rs886039270
|
0.00003
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)
|
rs74315442
|
0.00002
|
NM_001077350.3(NPRL3):c.318+3A>T
|
rs746765533
|
0.00002
|
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val)
|
rs777790535
|
0.00002
|
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys)
|
rs768119894
|
0.00002
|
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)
|
rs74315443
|
0.00001
|
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)
|
rs386833439
|
0.00001
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_000100.4(CSTB):c.149G>A (p.Gly50Glu)
|
rs312262708
|
0.00001
|
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu)
|
rs752422797
|
0.00001
|
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)
|
rs281865068
|
0.00001
|
NM_000748.3(CHRNB2):c.277A>T (p.Thr93Ser)
|
rs752355994
|
0.00001
|
NM_000748.3(CHRNB2):c.515A>G (p.Lys172Arg)
|
rs1330894666
|
0.00001
|
NM_001134407.3(GRIN2A):c.2927A>G (p.Asn976Ser)
|
rs886039239
|
0.00001
|
NM_001242896.3(DEPDC5):c.1261C>G (p.Pro421Ala)
|
rs764297665
|
0.00001
|
NM_001242896.3(DEPDC5):c.1265G>A (p.Arg422Gln)
|
rs886039277
|
0.00001
|
NM_001242896.3(DEPDC5):c.1454G>A (p.Arg485Gln)
|
rs886039278
|
0.00001
|
NM_001242896.3(DEPDC5):c.1459C>T (p.Arg487Ter)
|
rs587777459
|
0.00001
|
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)
|
rs587776973
|
0.00001
|
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)
|
rs768241563
|
0.00001
|
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter)
|
rs541024038
|
0.00001
|
NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile)
|
rs768456731
|
0.00001
|
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)
|
rs896069835
|
0.00001
|
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)
|
rs886041078
|
0.00001
|
NM_005506.4(SCARB2):c.704+1G>A
|
rs886041076
|
0.00001
|
NM_005506.4(SCARB2):c.704+5G>A
|
rs774271963
|
0.00001
|
NM_005506.4(SCARB2):c.862C>T (p.Gln288Ter)
|
rs121909118
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu)
|
rs1328763941
|
0.00001
|
NM_153033.5(KCTD7):c.121G>C (p.Ala41Pro)
|
rs766856368
|
0.00001
|
NM_198586.3(NHLRC1):c.76T>A (p.Cys26Ser)
|
rs28940575
|
0.00001
|
NM_000100.4(CSTB):c.168+2_168+19del
|
rs312262707
|
|
NM_000100.4(CSTB):c.168+2_168+21delinsAA
|
rs864309482
|
|
NM_000100.4(CSTB):c.168G>A (p.Lys56=)
|
rs386833440
|
|
NM_000100.4(CSTB):c.169-2A>G
|
rs386833441
|
|
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)
|
rs121909346
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.66G>A (p.Gln22=)
|
rs386833443
|
|
NM_000682.7(ADRA2B):c.274G>A (p.Asp92Asn)
|
rs1397681630
|
|
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn)
|
rs104894063
|
|
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp)
|
rs866334493
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup)
|
rs281865067
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1329-1G>T
|
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)
|
rs397518447
|
|
NM_001134407.3(GRIN2A):c.1948G>T (p.Ala650Ser)
|
rs2042447713
|
|
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=)
|
rs1327079068
|
|
NM_001134407.3(GRIN2A):c.1993C>T (p.Leu665Phe)
|
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2788C>G (p.Leu930Val)
|
|
|
NM_001161352.2(KCNMA1):c.162_173del (p.Ser57_Ser60del)
|
rs754606765
|
|
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
|
|
|
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup)
|
rs760628050
|
|
NM_001161352.2(KCNMA1):c.36CGG[9] (p.Gly19_Gly20dup)
|
rs760628050
|
|
NM_001242896.3(DEPDC5):c.1093_1099dup (p.Val367fs)
|
rs886039258
|
|
NM_001242896.3(DEPDC5):c.1114C>T (p.Gln372Ter)
|
rs886039259
|
|
NM_001242896.3(DEPDC5):c.1122del (p.Leu374fs)
|
rs879255234
|
|
NM_001242896.3(DEPDC5):c.1218-13_1218-10del
|
rs150103661
|
|
NM_001242896.3(DEPDC5):c.1264C>T (p.Arg422Ter)
|
rs757511744
|
|
NM_001242896.3(DEPDC5):c.132dup (p.Asn45fs)
|
rs886039244
|
|
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)
|
rs886039261
|
|
NM_001242896.3(DEPDC5):c.1625A>C (p.Gln542Pro)
|
rs886039279
|
|
NM_001242896.3(DEPDC5):c.1759C>T (p.Arg587Ter)
|
rs886039263
|
|
NM_001242896.3(DEPDC5):c.193+1G>A
|
rs886039245
|
|
NM_001242896.3(DEPDC5):c.2355-2A>G
|
rs797044545
|
|
NM_001242896.3(DEPDC5):c.2390del (p.Gln797fs)
|
rs886039264
|
|
NM_001242896.3(DEPDC5):c.2620C>T (p.Arg874Ter)
|
rs578185749
|
|
NM_001242896.3(DEPDC5):c.279+1G>A
|
rs886039246
|
|
NM_001242896.3(DEPDC5):c.3046C>T (p.Gln1016Ter)
|
rs886039265
|
|
NM_001242896.3(DEPDC5):c.3259C>T (p.Arg1087Ter)
|
rs587777458
|
|
NM_001242896.3(DEPDC5):c.3444del (p.Ile1148fs)
|
rs886039266
|
|
NM_001242896.3(DEPDC5):c.3484A>G (p.Ser1162Gly)
|
rs886039280
|
|
NM_001242896.3(DEPDC5):c.3696+5G>A
|
rs886039267
|
|
NM_001242896.3(DEPDC5):c.3802C>T (p.Arg1268Ter)
|
rs886039268
|
|
NM_001242896.3(DEPDC5):c.3803G>A (p.Arg1268Gln)
|
rs886039281
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
NM_001242896.3(DEPDC5):c.4107G>A (p.Trp1369Ter)
|
rs587776975
|
|
NM_001242896.3(DEPDC5):c.4187del (p.Ala1396fs)
|
rs886039271
|
|
NM_001242896.3(DEPDC5):c.418C>T (p.Gln140Ter)
|
rs786205703
|
|
NM_001242896.3(DEPDC5):c.435G>A (p.Trp145Ter)
|
rs886039247
|
|
NM_001242896.3(DEPDC5):c.4397G>A (p.Trp1466Ter)
|
rs886039273
|
|
NM_001242896.3(DEPDC5):c.4567C>T (p.Gln1523Ter)
|
rs797044546
|
|
NM_001242896.3(DEPDC5):c.4606C>T (p.Gln1536Ter)
|
rs886039274
|
|
NM_001242896.3(DEPDC5):c.484-1G>A
|
rs886039249
|
|
NM_001242896.3(DEPDC5):c.489_491del (p.Phe164del)
|
rs587776974
|
|
NM_001242896.3(DEPDC5):c.492_496del (p.Arg165fs)
|
rs886039250
|
|
NM_001242896.3(DEPDC5):c.526C>T (p.Gln176Ter)
|
rs886039251
|
|
NM_001242896.3(DEPDC5):c.56G>C (p.Ser19Thr)
|
rs886039275
|
|
NM_001242896.3(DEPDC5):c.59-1G>C
|
rs886039243
|
|
NM_001242896.3(DEPDC5):c.624+1G>A
|
rs886039252
|
|
NM_001242896.3(DEPDC5):c.640C>G (p.His214Asp)
|
rs886039276
|
|
NM_001242896.3(DEPDC5):c.715C>T (p.Arg239Ter)
|
rs587776976
|
|
NM_001242896.3(DEPDC5):c.727C>T (p.Arg243Ter)
|
rs772872014
|
|
NM_001242896.3(DEPDC5):c.730C>T (p.Gln244Ter)
|
rs886039253
|
|
NM_001242896.3(DEPDC5):c.783_786del (p.Asn261fs)
|
rs886039254
|
|
NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu)
|
rs187334123
|
|
NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)
|
rs886039255
|
|
NM_001242896.3(DEPDC5):c.918C>G (p.Tyr306Ter)
|
rs886039256
|
|
NM_001242896.3(DEPDC5):c.982C>T (p.Arg328Ter)
|
rs587776977
|
|
NM_001242896.3(DEPDC5):c.985del (p.Thr329fs)
|
rs886039257
|
|
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser)
|
rs1562940963
|
|
NM_005045.4(RELN):c.2288A>G (p.Asp763Gly)
|
rs794727998
|
|
NM_005045.4(RELN):c.2392C>A (p.His798Asn)
|
rs794727996
|
|
NM_005045.4(RELN):c.2531C>T (p.Pro844Leu)
|
rs797045000
|
|
NM_005045.4(RELN):c.8347G>T (p.Gly2783Cys)
|
rs794727997
|
|
NM_005045.4(RELN):c.9526G>A (p.Glu3176Lys)
|
rs794727999
|
|
NM_005097.4(LGI1):c.124T>C (p.Cys42Arg)
|
rs797044996
|
|
NM_005097.4(LGI1):c.124T>G (p.Cys42Gly)
|
rs797044996
|
|
NM_005097.4(LGI1):c.136T>C (p.Cys46Arg)
|
rs104894166
|
|
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)
|
rs797044999
|
|
NM_005097.4(LGI1):c.1420C>T (p.Arg474Ter)
|
rs797044998
|
|
NM_005097.4(LGI1):c.758del (p.Ala253fs)
|
rs797044997
|
|
NM_005506.4(SCARB2):c.1016dup (p.His341fs)
|
rs886041077
|
|
NM_005506.4(SCARB2):c.1087C>A (p.His363Asn)
|
rs758857853
|
|
NM_005506.4(SCARB2):c.111del (p.Ile37fs)
|
rs886041072
|
|
NM_005506.4(SCARB2):c.1239+1G>T
|
rs727502772
|
|
NM_005506.4(SCARB2):c.1258del (p.Glu420fs)
|
rs727502782
|
|
NM_005506.4(SCARB2):c.1385_1390delinsATGCATGCACC (p.Gly462fs)
|
rs886041079
|
|
NM_005506.4(SCARB2):c.1412A>G (p.Glu471Gly)
|
rs755903502
|
|
NM_005506.4(SCARB2):c.296del (p.Asn99fs)
|
rs886041073
|
|
NM_005506.4(SCARB2):c.424-2A>C
|
rs886041074
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
NM_005506.4(SCARB2):c.533G>A (p.Trp178Ter)
|
rs121909119
|
|
NM_005506.4(SCARB2):c.704+1G>C
|
rs886041076
|
|
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro)
|
rs374338349
|
|
NM_006545.5(NPRL2):c.213C>G (p.Ile71Met)
|
rs752423985
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg)
|
rs1216562585
|
|
NM_018896.5(CACNA1G):c.6508T>A (p.Trp2170Arg)
|
|
|
NM_018941.4(CLN8):c.70C>G (p.Arg24Gly)
|
rs104894064
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)
|
rs397515406
|
|
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile)
|
rs797044544
|
|
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His)
|
rs281865564
|
|
NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met)
|
rs201868078
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_198586.3(NHLRC1):c.593T>A (p.Ile198Asn)
|
rs121917876
|
|