NM_000811.3(GABRA6):c.951G>T (p.Ala317=)
|
rs12522663
|
0.96771
|
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)
|
rs4247094
|
0.85388
|
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)
|
rs8063574
|
0.85136
|
NM_021098.3(CACNA1H):c.4338T>C (p.Ile1446=)
|
rs4984637
|
0.85027
|
NM_000815.5(GABRD):c.69-19G>A
|
rs2376805
|
0.81443
|
NM_000815.5(GABRD):c.330T>C (p.Gly110=)
|
rs2229110
|
0.66530
|
NM_021098.3(CACNA1H):c.4278A>G (p.Ser1426=)
|
rs2753325
|
0.65866
|
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=)
|
rs2753326
|
0.65842
|
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)
|
rs1054645
|
0.64981
|
NM_021098.3(CACNA1H):c.5730C>T (p.Asp1910=)
|
rs2745136
|
0.64782
|
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)
|
rs2738893
|
0.63925
|
NM_001127644.2(GABRA1):c.1059+15G>A
|
rs2279020
|
0.62825
|
NM_021098.3(CACNA1H):c.4039-20G>A
|
rs2738897
|
0.53797
|
NM_000811.3(GABRA6):c.*135C>T
|
rs3219151
|
0.50903
|
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=)
|
rs9934839
|
0.50649
|
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=)
|
rs8044363
|
0.44103
|
NM_001350451.2(RBFOX3):c.622+6A>G
|
rs58352742
|
0.42513
|
NM_000814.6(GABRB3):c.1080+15A>G
|
rs3751582
|
0.34839
|
NM_198904.4(GABRG2):c.588C>T (p.Asn196=)
|
rs211037
|
0.31659
|
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)
|
rs61734410
|
0.29755
|
NM_001350451.2(RBFOX3):c.568+17C>T
|
rs11651975
|
0.26012
|
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=)
|
rs1129647
|
0.23538
|
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala)
|
rs4984636
|
0.20272
|
NM_018100.4(EFHC1):c.573+10A>G
|
rs9349626
|
0.18650
|
NM_001350451.2(RBFOX3):c.66C>T (p.Tyr22=)
|
rs80198744
|
0.18638
|
NM_000811.3(GABRA6):c.9G>A (p.Ser3=)
|
rs13188991
|
0.18038
|
NM_000814.6(GABRB3):c.240+13C>T
|
rs8179186
|
0.12842
|
NM_021098.3(CACNA1H):c.937A>G (p.Met313Val)
|
rs36117280
|
0.12769
|
NM_000815.5(GABRD):c.1060-14C>T
|
rs28431879
|
0.11669
|
NM_000815.5(GABRD):c.816C>T (p.Ser272=)
|
rs28408173
|
0.11662
|
NM_021098.3(CACNA1H):c.2603+12C>T
|
rs2745150
|
0.10774
|
NM_018723.4(RBFOX1):c.931-19A>G
|
rs2302213
|
0.10758
|
NM_021098.3(CACNA1H):c.5244+7G>A
|
rs2235634
|
0.10432
|
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=)
|
rs9922076
|
0.09939
|
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=)
|
rs2407083
|
0.09922
|
NM_021098.3(CACNA1H):c.4221G>A (p.Leu1407=)
|
rs61910714
|
0.09043
|
NM_021098.3(CACNA1H):c.5721C>T (p.Gly1907=)
|
rs2738891
|
0.08967
|
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His)
|
rs1054644
|
0.08945
|
NM_000811.3(GABRA6):c.1210C>T (p.Pro404Ser)
|
rs34907804
|
0.08568
|
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)
|
rs1266787
|
0.07947
|
NM_021098.3(CACNA1H):c.2604-19C>T
|
rs11646893
|
0.07745
|
NM_198904.4(GABRG2):c.315C>T (p.Asn105=)
|
rs11135176
|
0.07676
|
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys)
|
rs3751664
|
0.07491
|
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)
|
rs17851770
|
0.06310
|
NM_000726.5(CACNB4):c.1239G>A (p.Leu413=)
|
rs1805028
|
0.05818
|
NM_001127644.2(GABRA1):c.857-18T>C
|
rs78782356
|
0.05705
|
NM_000726.5(CACNB4):c.762T>A (p.Ile254=)
|
rs61736804
|
0.05586
|
NM_018100.4(EFHC1):c.545G>A (p.Arg182His)
|
rs3804505
|
0.05453
|
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=)
|
rs3751889
|
0.05412
|
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly)
|
rs3751886
|
0.05247
|
NM_021098.3(CACNA1H):c.5418G>C (p.Thr1806=)
|
rs57135930
|
0.04916
|
NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys)
|
rs72552056
|
0.04911
|
NM_021098.3(CACNA1H):c.5778G>A (p.Ser1926=)
|
rs60526088
|
0.04674
|
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=)
|
rs28365124
|
0.04584
|
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln)
|
rs58124832
|
0.04404
|
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=)
|
rs59794024
|
0.03762
|
NM_018723.4(RBFOX1):c.126G>A (p.Thr42=)
|
rs17143930
|
0.03708
|
NM_021098.3(CACNA1H):c.6048+13G>A
|
rs3751888
|
0.03131
|
NM_000815.5(GABRD):c.1104C>T (p.Ala368=)
|
rs28398772
|
0.02739
|
NM_000814.6(GABRB3):c.783G>A (p.Ser261=)
|
rs76812964
|
0.02298
|
NM_000814.6(GABRB3):c.603C>T (p.Thr201=)
|
rs75965657
|
0.01810
|
NM_000815.5(GABRD):c.659G>A (p.Arg220His)
|
rs41307846
|
0.01721
|
NM_018723.4(RBFOX1):c.1071+3G>A
|
rs79369633
|
0.01704
|
NM_198904.4(GABRG2):c.354G>A (p.Ala118=)
|
rs61735412
|
0.01699
|
NM_198904.4(GABRG2):c.328-20T>G
|
rs74810777
|
0.01604
|
NM_000726.5(CACNB4):c.1116+18T>C
|
rs115324887
|
0.01581
|
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)
|
rs9924241
|
0.01528
|
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)
|
rs72552054
|
0.01514
|
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr)
|
rs59650398
|
0.01351
|
NM_021098.3(CACNA1H):c.546-10C>T
|
rs35509671
|
0.01282
|
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=)
|
rs191613214
|
0.01279
|
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=)
|
rs58812334
|
0.01201
|
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=)
|
rs76224028
|
0.01067
|
NM_018100.4(EFHC1):c.881G>A (p.Arg294His)
|
rs1570624
|
0.00969
|
NM_018723.4(RBFOX1):c.333A>G (p.Glu111=)
|
rs140174146
|
0.00959
|
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=)
|
rs59385968
|
0.00957
|
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=)
|
rs59844753
|
0.00947
|
NM_021098.3(CACNA1H):c.1120-8C>T
|
rs59091981
|
0.00928
|
NM_000811.3(GABRA6):c.560C>T (p.Thr187Met)
|
rs3811993
|
0.00892
|
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=)
|
rs58110336
|
0.00885
|
NM_021098.3(CACNA1H):c.4929+18G>A
|
rs59548273
|
0.00873
|
NM_018100.4(EFHC1):c.1893C>T (p.Tyr631=)
|
rs35648306
|
0.00805
|
NM_021098.3(CACNA1H):c.498C>T (p.Tyr166=)
|
rs58142268
|
0.00792
|
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)
|
rs149055334
|
0.00789
|
NM_018100.4(EFHC1):c.662G>A (p.Arg221His)
|
rs79761183
|
0.00778
|
NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=)
|
rs61394370
|
0.00768
|
NM_021098.3(CACNA1H):c.299+14C>G
|
rs539924701
|
0.00740
|
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)
|
rs41292285
|
0.00715
|
NM_000815.5(GABRD):c.1202C>T (p.Thr401Met)
|
rs116604393
|
0.00685
|
NM_021098.3(CACNA1H):c.1513C>T (p.Arg505Cys)
|
rs60414549
|
0.00678
|
NM_021098.3(CACNA1H):c.2631C>T (p.Asp877=)
|
rs59636120
|
0.00667
|
NM_000726.5(CACNB4):c.1303-3T>C
|
rs143442080
|
0.00617
|
NM_018100.4(EFHC1):c.1224C>T (p.Asp408=)
|
rs116134831
|
0.00613
|
NM_021098.3(CACNA1H):c.6273C>T (p.Ala2091=)
|
rs59297244
|
0.00610
|
NM_021098.3(CACNA1H):c.2881C>T (p.Leu961=)
|
rs58615599
|
0.00607
|
NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu)
|
rs59935412
|
0.00605
|
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)
|
rs148651456
|
0.00596
|
NM_021098.3(CACNA1H):c.3206G>A (p.Arg1069Gln)
|
rs57633676
|
0.00591
|
NM_000811.3(GABRA6):c.594C>A (p.Val198=)
|
rs143830239
|
0.00577
|
NM_021098.3(CACNA1H):c.5324-4G>A
|
rs57687113
|
0.00558
|
NM_021098.3(CACNA1H):c.6048+12C>T
|
rs192277843
|
0.00554
|
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)
|
rs60218977
|
0.00542
|
NM_198904.4(GABRG2):c.360G>A (p.Thr120=)
|
rs77298346
|
0.00541
|
NM_001350451.2(RBFOX3):c.998+9G>T
|
rs79080598
|
0.00519
|
NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)
|
rs61382101
|
0.00511
|
NM_021098.3(CACNA1H):c.1381C>T (p.Leu461=)
|
rs57112868
|
0.00508
|
NM_021098.3(CACNA1H):c.1359T>C (p.Pro453=)
|
rs60720455
|
0.00507
|
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met)
|
rs59286323
|
0.00493
|
NM_198904.4(GABRG2):c.717A>G (p.Gln239=)
|
rs78261481
|
0.00489
|
NM_021098.3(CACNA1H):c.4932G>A (p.Ser1644=)
|
rs58764017
|
0.00488
|
NM_000815.5(GABRD):c.414G>A (p.Thr138=)
|
rs77892827
|
0.00480
|
NM_021098.3(CACNA1H):c.2265C>T (p.Gly755=)
|
rs61073355
|
0.00480
|
NM_021098.3(CACNA1H):c.1236C>T (p.Asn412=)
|
rs59696308
|
0.00434
|
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=)
|
rs138259457
|
0.00428
|
NM_000811.3(GABRA6):c.639A>G (p.Gln213=)
|
rs34826485
|
0.00427
|
NM_021098.3(CACNA1H):c.1479T>C (p.Ser493=)
|
rs60415676
|
0.00425
|
NM_021098.3(CACNA1H):c.4038+12C>T
|
rs370831984
|
0.00414
|
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)
|
rs73740379
|
0.00408
|
NM_021098.3(CACNA1H):c.5173+10C>T
|
rs72554026
|
0.00407
|
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=)
|
rs577235589
|
0.00390
|
NM_021098.3(CACNA1H):c.4224-6C>T
|
rs72552039
|
0.00386
|
NM_018100.4(EFHC1):c.210A>G (p.Pro70=)
|
rs145367062
|
0.00385
|
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=)
|
rs60275734
|
0.00378
|
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg)
|
rs59529743
|
0.00364
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_021098.3(CACNA1H):c.827G>A (p.Arg276Gln)
|
rs59709076
|
0.00348
|
NM_018723.4(RBFOX1):c.137C>A (p.Pro46His)
|
rs113298071
|
0.00341
|
NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=)
|
rs59090452
|
0.00320
|
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
|
rs60593994
|
0.00318
|
NM_001350451.2(RBFOX3):c.360+16C>T
|
rs550827396
|
0.00312
|
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)
|
rs28365117
|
0.00299
|
NM_021098.3(CACNA1H):c.5445+4C>T
|
rs147142971
|
0.00295
|
NM_021098.3(CACNA1H):c.4039-4G>A
|
rs57315342
|
0.00287
|
NM_018100.4(EFHC1):c.25T>C (p.Leu9=)
|
rs149315015
|
0.00264
|
NM_000815.5(GABRD):c.405C>T (p.His135=)
|
rs61742636
|
0.00262
|
NM_018100.4(EFHC1):c.887G>A (p.Arg296His)
|
rs115205076
|
0.00261
|
NM_021098.3(CACNA1H):c.3846-10G>A
|
rs377030217
|
0.00260
|
NM_001350451.2(RBFOX3):c.321C>T (p.Pro107=)
|
rs150282906
|
0.00254
|
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)
|
rs137852776
|
0.00242
|
NM_021098.3(CACNA1H):c.108G>C (p.Pro36=)
|
rs28365126
|
0.00241
|
NM_000726.5(CACNB4):c.655A>G (p.Met219Val)
|
rs201870832
|
0.00239
|
NM_000811.3(GABRA6):c.805G>A (p.Val269Ile)
|
rs150866100
|
0.00227
|
NM_000811.3(GABRA6):c.710A>G (p.Gln237Arg)
|
rs76773579
|
0.00226
|
NM_021098.3(CACNA1H):c.2603+20C>A
|
rs57600685
|
0.00226
|
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)
|
rs60445853
|
0.00223
|
NM_021098.3(CACNA1H):c.2145C>T (p.Ser715=)
|
rs58212659
|
0.00220
|
NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)
|
rs115913738
|
0.00210
|
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)
|
rs57105517
|
0.00209
|
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg)
|
rs200662010
|
0.00201
|
NM_000815.5(GABRD):c.1002C>T (p.Asn334=)
|
rs41315330
|
0.00194
|
NM_021098.3(CACNA1H):c.3622G>A (p.Ala1208Thr)
|
rs58394372
|
0.00193
|
NM_000814.6(GABRB3):c.682+20A>G
|
rs75015217
|
0.00189
|
NM_021098.3(CACNA1H):c.1735G>A (p.Asp579Asn)
|
rs200804807
|
0.00187
|
NM_021098.3(CACNA1H):c.6717C>T (p.Gly2239=)
|
rs143733790
|
0.00186
|
NM_021098.3(CACNA1H):c.4778-14C>T
|
rs374784679
|
0.00185
|
NM_000726.5(CACNB4):c.324C>T (p.Asp108=)
|
rs147647355
|
0.00173
|
NM_018723.4(RBFOX1):c.282C>T (p.Asp94=)
|
rs145861898
|
0.00171
|
NM_021098.3(CACNA1H):c.1212+18T>C
|
rs11863387
|
0.00171
|
NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=)
|
rs57181695
|
0.00171
|
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)
|
rs375589233
|
0.00171
|
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys)
|
rs505760
|
0.00170
|
NM_021098.3(CACNA1H):c.6934A>G (p.Met2312Val)
|
rs58535913
|
0.00170
|
NM_021098.3(CACNA1H):c.2626G>A (p.Ala876Thr)
|
rs58173258
|
0.00169
|
NM_001350451.2(RBFOX3):c.623-4G>T
|
rs547643968
|
0.00164
|
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met)
|
rs59052554
|
0.00164
|
NM_021098.3(CACNA1H):c.4777+16C>T
|
rs58216775
|
0.00164
|
NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser)
|
rs145873257
|
0.00156
|
NM_021098.3(CACNA1H):c.2790-20G>A
|
rs373286579
|
0.00153
|
NM_021098.3(CACNA1H):c.819C>T (p.Thr273=)
|
rs72552033
|
0.00150
|
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=)
|
rs1805029
|
0.00148
|
NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)
|
rs115475262
|
0.00140
|
NM_018723.4(RBFOX1):c.175C>T (p.Pro59Ser)
|
rs137880529
|
0.00137
|
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val)
|
rs58597457
|
0.00137
|
NM_021098.3(CACNA1H):c.6653G>A (p.Arg2218His)
|
rs56885166
|
0.00136
|
NM_021098.3(CACNA1H):c.1213-18C>T
|
rs57432507
|
0.00130
|
NM_021098.3(CACNA1H):c.4778-5C>T
|
rs72552061
|
0.00130
|
NM_021098.3(CACNA1H):c.2434G>A (p.Val812Met)
|
rs28365119
|
0.00128
|
NM_021098.3(CACNA1H):c.6322G>A (p.Ala2108Thr)
|
rs56930660
|
0.00126
|
NM_000815.5(GABRD):c.470+20G>A
|
rs372728395
|
0.00124
|
NM_000815.5(GABRD):c.68+18G>A
|
rs952639317
|
0.00122
|
NM_001350451.2(RBFOX3):c.63G>A (p.Glu21=)
|
rs565537117
|
0.00122
|
NM_021098.3(CACNA1H):c.4248C>G (p.Leu1416=)
|
rs58110066
|
0.00122
|
NM_021098.3(CACNA1H):c.6543G>A (p.Ala2181=)
|
rs117964326
|
0.00118
|
NM_021098.3(CACNA1H):c.1059C>T (p.Asn353=)
|
rs59310656
|
0.00117
|
NM_000815.5(GABRD):c.1107C>A (p.Gly369=)
|
rs148300882
|
0.00115
|
NM_021098.3(CACNA1H):c.643+11G>A
|
rs200949826
|
0.00114
|
NM_021098.3(CACNA1H):c.3669C>T (p.Ala1223=)
|
rs59954346
|
0.00113
|
NM_000726.5(CACNB4):c.792T>C (p.Ser264=)
|
rs139448267
|
0.00110
|
NM_000815.5(GABRD):c.87C>T (p.Gly29=)
|
rs79685811
|
0.00109
|
NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu)
|
rs145376050
|
0.00109
|
NM_021098.3(CACNA1H):c.3115G>A (p.Glu1039Lys)
|
rs140421233
|
0.00109
|
NM_000815.5(GABRD):c.831C>T (p.Pro277=)
|
rs148120771
|
0.00107
|
NM_021098.3(CACNA1H):c.385G>A (p.Gly129Ser)
|
rs187596702
|
0.00107
|
NM_000811.3(GABRA6):c.60A>G (p.Lys20=)
|
rs112717732
|
0.00096
|
NM_021098.3(CACNA1H):c.5494C>T (p.Leu1832=)
|
rs61732194
|
0.00095
|
NM_021098.3(CACNA1H):c.2511C>T (p.Ala837=)
|
rs200144667
|
0.00094
|
NM_021098.3(CACNA1H):c.5655G>A (p.Ala1885=)
|
rs58632975
|
0.00092
|
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe)
|
rs200092211
|
0.00091
|
NM_001350451.2(RBFOX3):c.39G>A (p.Pro13=)
|
rs940680437
|
0.00091
|
NM_021098.3(CACNA1H):c.3617C>T (p.Pro1206Leu)
|
rs200055979
|
0.00091
|
NM_021098.3(CACNA1H):c.5173+18C>T
|
rs373269618
|
0.00089
|
NM_000811.3(GABRA6):c.255G>C (p.Gln85His)
|
rs115069685
|
0.00088
|
NM_021098.3(CACNA1H):c.1213-11C>T
|
rs57772860
|
0.00088
|
NM_001127644.2(GABRA1):c.27C>A (p.Asp9Glu)
|
rs113886269
|
0.00087
|
NM_021098.3(CACNA1H):c.1702G>A (p.Asp568Asn)
|
rs61056448
|
0.00086
|
NM_021098.3(CACNA1H):c.3364-3C>T
|
rs57079020
|
0.00086
|
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)
|
rs57260464
|
0.00083
|
NM_021098.3(CACNA1H):c.2451+20C>T
|
rs144765479
|
0.00083
|
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)
|
rs186422070
|
0.00083
|
NM_000815.5(GABRD):c.658C>T (p.Arg220Cys)
|
rs139300921
|
0.00080
|
NM_021098.3(CACNA1H):c.3276A>T (p.Pro1092=)
|
rs200569619
|
0.00080
|
NM_018723.4(RBFOX1):c.677-5C>T
|
rs147023054
|
0.00077
|
NM_021098.3(CACNA1H):c.3744+17G>A
|
rs187187164
|
0.00077
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
NM_021098.3(CACNA1H):c.3261C>A (p.Thr1087=)
|
rs57606792
|
0.00073
|
NM_021098.3(CACNA1H):c.804-8A>G
|
rs367708036
|
0.00073
|
NM_021098.3(CACNA1H):c.3614G>A (p.Arg1205Gln)
|
rs58594334
|
0.00072
|
NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)
|
rs200542719
|
0.00072
|
NM_021098.3(CACNA1H):c.5244+17C>T
|
rs201348517
|
0.00072
|
NM_021098.3(CACNA1H):c.2368G>A (p.Val790Met)
|
rs28365116
|
0.00071
|
NM_018723.4(RBFOX1):c.142C>T (p.Pro48Ser)
|
rs151214012
|
0.00070
|
NM_021098.3(CACNA1H):c.2310C>T (p.Gly770=)
|
rs371026871
|
0.00068
|
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His)
|
rs200228767
|
0.00068
|
NM_021098.3(CACNA1H):c.817A>T (p.Thr273Ser)
|
rs58386301
|
0.00068
|
NM_021098.3(CACNA1H):c.1425C>T (p.Ser475=)
|
rs60537026
|
0.00067
|
NM_021098.3(CACNA1H):c.3629C>T (p.Pro1210Leu)
|
rs61319429
|
0.00067
|
NM_198904.4(GABRG2):c.798T>C (p.Phe266=)
|
rs115126975
|
0.00067
|
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=)
|
rs41308303
|
0.00066
|
NM_001127644.2(GABRA1):c.255+12C>T
|
rs144727170
|
0.00066
|
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=)
|
rs200750234
|
0.00066
|
NM_021098.3(CACNA1H):c.6048+18C>A
|
rs72552057
|
0.00066
|
NM_021098.3(CACNA1H):c.918C>T (p.Pro306=)
|
rs57468015
|
0.00065
|
NM_000815.5(GABRD):c.68+17C>G
|
rs868634453
|
0.00063
|
NM_018100.4(EFHC1):c.64-5T>C
|
rs201860746
|
0.00063
|
NM_021098.3(CACNA1H):c.3364-14C>A
|
rs372807603
|
0.00063
|
NM_021098.3(CACNA1H):c.3645C>T (p.Arg1215=)
|
rs371762447
|
0.00063
|
NM_021098.3(CACNA1H):c.5808C>T (p.Pro1936=)
|
rs374421144
|
0.00063
|
NM_198904.4(GABRG2):c.259+20G>A
|
rs200011382
|
0.00063
|
NM_001350451.2(RBFOX3):c.552G>T (p.Gly184=)
|
rs375171072
|
0.00060
|
NM_018100.4(EFHC1):c.90G>A (p.Thr30=)
|
rs140429638
|
0.00059
|
NM_021098.3(CACNA1H):c.2229G>A (p.Thr743=)
|
rs111986908
|
0.00058
|
NM_021098.3(CACNA1H):c.299+20G>T
|
rs1291334132
|
0.00058
|
NM_000815.5(GABRD):c.1060-7C>T
|
rs368961588
|
0.00054
|
NM_001350451.2(RBFOX3):c.103G>A (p.Gly35Ser)
|
rs375309858
|
0.00054
|
NM_021098.3(CACNA1H):c.3362C>T (p.Pro1121Leu)
|
rs200832286
|
0.00054
|
NM_021098.3(CACNA1H):c.3845+8G>A
|
rs200291203
|
0.00054
|
NM_198904.4(GABRG2):c.631+18T>A
|
rs145582456
|
0.00054
|
NM_021098.3(CACNA1H):c.1371C>T (p.Tyr457=)
|
rs368758031
|
0.00053
|
NM_021098.3(CACNA1H):c.3970-6C>T
|
rs200403676
|
0.00053
|
NM_000815.5(GABRD):c.577G>A (p.Val193Ile)
|
rs143115257
|
0.00052
|
NM_018723.4(RBFOX1):c.96C>G (p.Pro32=)
|
rs143695164
|
0.00052
|
NM_000811.3(GABRA6):c.1142T>C (p.Ile381Thr)
|
rs141319994
|
0.00051
|
NM_018723.4(RBFOX1):c.270+10C>G
|
rs113881725
|
0.00051
|
NM_021098.3(CACNA1H):c.2030C>T (p.Ser677Leu)
|
rs181892888
|
0.00051
|
NM_000814.6(GABRB3):c.1158C>T (p.Gly386=)
|
rs147235962
|
0.00050
|
NM_021098.3(CACNA1H):c.1218C>T (p.Gly406=)
|
rs375730044
|
0.00050
|
NM_021098.3(CACNA1H):c.2546C>T (p.Pro849Leu)
|
rs571237069
|
0.00050
|
NM_001350451.2(RBFOX3):c.223-18C>T
|
rs181329485
|
0.00049
|
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=)
|
rs749735503
|
0.00049
|
NM_000815.5(GABRD):c.1150C>T (p.Pro384Ser)
|
rs79386457
|
0.00048
|
NM_021098.3(CACNA1H):c.3589G>A (p.Glu1197Lys)
|
rs751423106
|
0.00048
|
NM_021098.3(CACNA1H):c.3969+20C>T
|
rs201422742
|
0.00048
|
NM_021098.3(CACNA1H):c.5445+6C>T
|
rs372544546
|
0.00048
|
NM_021098.3(CACNA1H):c.6198C>T (p.Ser2066=)
|
rs375020212
|
0.00048
|
NM_021098.3(CACNA1H):c.5874C>T (p.Ala1958=)
|
rs530638249
|
0.00047
|
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu)
|
rs60734921
|
0.00046
|
NM_000815.5(GABRD):c.1060-8T>A
|
rs76809996
|
0.00045
|
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His)
|
rs201009269
|
0.00045
|
NM_021098.3(CACNA1H):c.6222C>T (p.Phe2074=)
|
rs373620549
|
0.00045
|
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=)
|
rs75914945
|
0.00044
|
NM_021098.3(CACNA1H):c.4386C>T (p.Pro1462=)
|
rs142856193
|
0.00043
|
NM_021098.3(CACNA1H):c.4476+15C>T
|
rs201891003
|
0.00043
|
NM_000815.5(GABRD):c.775G>A (p.Val259Ile)
|
rs148908731
|
0.00042
|
NM_021098.3(CACNA1H):c.3845+11C>T
|
rs58080058
|
0.00042
|
NM_021098.3(CACNA1H):c.5679G>T (p.Arg1893=)
|
rs58304047
|
0.00041
|
NM_021098.3(CACNA1H):c.5958G>A (p.Ser1986=)
|
rs370805573
|
0.00041
|
NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=)
|
rs57670193
|
0.00041
|
NM_021098.3(CACNA1H):c.7057G>A (p.Val2353Met)
|
rs150601404
|
0.00041
|
NM_021098.3(CACNA1H):c.888C>T (p.Asp296=)
|
rs79829712
|
0.00041
|
NM_001350451.2(RBFOX3):c.222+14C>T
|
rs373727615
|
0.00040
|
NM_021098.3(CACNA1H):c.1213-7G>A
|
rs372752869
|
0.00040
|
NM_021098.3(CACNA1H):c.5836C>T (p.Arg1946Cys)
|
rs57429153
|
0.00040
|
NM_021098.3(CACNA1H):c.4986C>T (p.Phe1662=)
|
rs60938322
|
0.00039
|
NM_001350451.2(RBFOX3):c.19C>T (p.Pro7Ser)
|
rs376060745
|
0.00038
|
NM_001350451.2(RBFOX3):c.960C>T (p.Tyr320=)
|
rs539897924
|
0.00038
|
NM_018723.4(RBFOX1):c.264C>T (p.Thr88=)
|
rs202136920
|
0.00038
|
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)
|
rs187225648
|
0.00038
|
NM_021098.3(CACNA1H):c.6579G>A (p.Ser2193=)
|
rs200017975
|
0.00038
|
NM_000815.5(GABRD):c.102C>T (p.Ser34=)
|
rs140855313
|
0.00036
|
NM_018100.4(EFHC1):c.97T>C (p.Tyr33His)
|
rs374402088
|
0.00036
|
NM_021098.3(CACNA1H):c.2151G>A (p.Ser717=)
|
rs200423899
|
0.00036
|
NM_021098.3(CACNA1H):c.3970-5G>A
|
rs202115678
|
0.00036
|
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)
|
rs200520956
|
0.00036
|
NM_001350451.2(RBFOX3):c.245C>T (p.Thr82Met)
|
rs748950439
|
0.00035
|
NM_000815.5(GABRD):c.1152G>A (p.Pro384=)
|
rs77557135
|
0.00034
|
NM_000815.5(GABRD):c.470+6C>T
|
rs202225187
|
0.00034
|
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile)
|
rs201352768
|
0.00034
|
NM_001350451.2(RBFOX3):c.567C>T (p.Asn189=)
|
rs369818738
|
0.00033
|
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)
|
rs776370351
|
0.00033
|
NM_021098.3(CACNA1H):c.2338G>T (p.Val780Phe)
|
rs60534546
|
0.00033
|
NM_021098.3(CACNA1H):c.3846-16G>A
|
rs764918796
|
0.00033
|
NM_001350451.2(RBFOX3):c.222+15G>A
|
rs371537468
|
0.00032
|
NM_001350451.2(RBFOX3):c.271G>A (p.Asp91Asn)
|
rs375940495
|
0.00032
|
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)
|
rs368976749
|
0.00032
|
NM_021098.3(CACNA1H):c.2264G>A (p.Gly755Asp)
|
rs142306293
|
0.00032
|
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=)
|
rs370039255
|
0.00032
|
NM_021098.3(CACNA1H):c.4758G>A (p.Arg1586=)
|
rs200153161
|
0.00032
|
NM_000814.6(GABRB3):c.835+8C>T
|
rs75812437
|
0.00031
|
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)
|
rs200813987
|
0.00031
|
NM_021098.3(CACNA1H):c.2907+18C>T
|
rs370510626
|
0.00031
|
NM_021098.3(CACNA1H):c.3745-17G>A
|
rs201602467
|
0.00031
|
NM_021098.3(CACNA1H):c.4741C>G (p.Leu1581Val)
|
rs755918582
|
0.00031
|
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val)
|
rs368835582
|
0.00031
|
NM_021098.3(CACNA1H):c.6531C>T (p.Pro2177=)
|
rs368284672
|
0.00031
|
NM_001350451.2(RBFOX3):c.22G>A (p.Ala8Thr)
|
rs1299842245
|
0.00030
|
NM_021098.3(CACNA1H):c.1778_1789del (p.His593_Thr597delinsPro)
|
rs768475346
|
0.00030
|
NM_021098.3(CACNA1H):c.3618G>A (p.Pro1206=)
|
rs771412437
|
0.00030
|
NM_021098.3(CACNA1H):c.4566+18G>A
|
rs376034289
|
0.00030
|
NM_000815.5(GABRD):c.1113G>A (p.Thr371=)
|
rs755961495
|
0.00029
|
NM_001350451.2(RBFOX3):c.548C>T (p.Thr183Met)
|
rs542684395
|
0.00029
|
NM_001350451.2(RBFOX3):c.594C>T (p.Gly198=)
|
rs371067982
|
0.00029
|
NM_021098.3(CACNA1H):c.2015C>T (p.Ala672Val)
|
rs538959856
|
0.00029
|
NM_021098.3(CACNA1H):c.2605G>A (p.Val869Ile)
|
rs531253297
|
0.00029
|
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=)
|
rs377112179
|
0.00029
|
NM_021098.3(CACNA1H):c.4790G>A (p.Arg1597Gln)
|
rs370079169
|
0.00029
|
NM_021098.3(CACNA1H):c.643+15C>G
|
rs59026203
|
0.00029
|
NM_021098.3(CACNA1H):c.6943G>A (p.Gly2315Ser)
|
rs200158741
|
0.00029
|
NM_145893.3(RBFOX1):c.11C>G (p.Ser4Cys)
|
rs147306562
|
0.00029
|
NM_198904.4(GABRG2):c.922+20G>A
|
rs11575991
|
0.00029
|
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=)
|
rs190024862
|
0.00028
|
NM_000814.6(GABRB3):c.80+11G>A
|
rs368259836
|
0.00027
|
NM_018723.4(RBFOX1):c.144C>T (p.Pro48=)
|
rs61742359
|
0.00027
|
NM_021098.3(CACNA1H):c.1310G>A (p.Arg437Gln)
|
rs59461207
|
0.00027
|
NM_021098.3(CACNA1H):c.2003-5C>T
|
rs369119012
|
0.00027
|
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)
|
rs199693105
|
0.00027
|
NM_021098.3(CACNA1H):c.5988C>T (p.His1996=)
|
rs534974071
|
0.00027
|
NM_000726.5(CACNB4):c.54C>A (p.Pro18=)
|
rs373222155
|
0.00026
|
NM_000815.5(GABRD):c.264G>A (p.Thr88=)
|
rs200593470
|
0.00026
|
NM_018723.4(RBFOX1):c.70C>T (p.Pro24Ser)
|
rs148751394
|
0.00026
|
NM_021098.3(CACNA1H):c.1389C>T (p.Tyr463=)
|
rs375590164
|
0.00026
|
NM_021098.3(CACNA1H):c.1436A>G (p.Tyr479Cys)
|
rs199914911
|
0.00026
|
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln)
|
rs568224207
|
0.00026
|
NM_021098.3(CACNA1H):c.2356C>T (p.Leu786=)
|
rs201386848
|
0.00026
|
NM_021098.3(CACNA1H):c.3154+13G>A
|
rs376515304
|
0.00026
|
NM_021098.3(CACNA1H):c.3745-18C>T
|
rs570915422
|
0.00026
|
NM_021098.3(CACNA1H):c.5678G>A (p.Arg1893Gln)
|
rs374710554
|
0.00026
|
NM_021098.3(CACNA1H):c.713T>G (p.Phe238Cys)
|
rs59084089
|
0.00026
|
NM_000815.5(GABRD):c.177C>T (p.Ile59=)
|
rs779883280
|
0.00025
|
NM_001350451.2(RBFOX3):c.1077+17C>T
|
rs752716524
|
0.00025
|
NM_018723.4(RBFOX1):c.320C>T (p.Ser107Phe)
|
rs201282652
|
0.00025
|
NM_021098.3(CACNA1H):c.1869C>T (p.Ser623=)
|
rs372975893
|
0.00025
|
NM_021098.3(CACNA1H):c.5989G>A (p.Ala1997Thr)
|
rs376628149
|
0.00025
|
NM_021098.3(CACNA1H):c.6311_6325del (p.Ile2104_Cys2109delinsSer)
|
rs774660673
|
0.00025
|
NM_198904.4(GABRG2):c.954C>T (p.Leu318=)
|
rs749531013
|
0.00025
|
NM_000814.6(GABRB3):c.231A>G (p.Glu77=)
|
rs151221282
|
0.00024
|
NM_000815.5(GABRD):c.969C>T (p.Ala323=)
|
rs146381127
|
0.00024
|
NM_001350451.2(RBFOX3):c.347G>A (p.Arg116Gln)
|
rs199891032
|
0.00024
|
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)
|
rs145194882
|
0.00024
|
NM_018723.4(RBFOX1):c.969T>G (p.Pro323=)
|
rs1416883490
|
0.00024
|
NM_021098.3(CACNA1H):c.1517G>A (p.Arg506Gln)
|
rs532223684
|
0.00024
|
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)
|
rs372367313
|
0.00024
|
NM_021098.3(CACNA1H):c.2604-17C>A
|
rs781633068
|
0.00024
|
NM_021098.3(CACNA1H):c.4779G>A (p.Glu1593=)
|
rs563695539
|
0.00024
|
NM_021098.3(CACNA1H):c.5562G>C (p.Val1854=)
|
rs368251427
|
0.00024
|
NM_021098.3(CACNA1H):c.6517C>T (p.Pro2173Ser)
|
rs200675829
|
0.00024
|
NM_198904.4(GABRG2):c.769+20A>C
|
rs182866753
|
0.00024
|
NM_021098.3(CACNA1H):c.3408C>T (p.Gly1136=)
|
rs61543423
|
0.00023
|
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter)
|
rs761719764
|
0.00023
|
NM_021098.3(CACNA1H):c.43C>T (p.Leu15=)
|
rs1052743921
|
0.00023
|
NM_021098.3(CACNA1H):c.6252G>A (p.Ala2084=)
|
rs767753103
|
0.00023
|
NM_198904.4(GABRG2):c.922+6A>G
|
rs375294947
|
0.00023
|
NM_000814.6(GABRB3):c.19G>A (p.Gly7Arg)
|
rs759931649
|
0.00022
|
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=)
|
rs142385746
|
0.00022
|
NM_018723.4(RBFOX1):c.290C>T (p.Pro97Leu)
|
rs139251660
|
0.00022
|
NM_021098.3(CACNA1H):c.1495G>A (p.Gly499Ser)
|
rs560915333
|
0.00022
|
NM_021098.3(CACNA1H):c.177C>T (p.Gly59=)
|
rs775960864
|
0.00022
|
NM_021098.3(CACNA1H):c.1782C>T (p.Ala594=)
|
rs772111884
|
0.00022
|
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn)
|
rs371925462
|
0.00022
|
NM_021098.3(CACNA1H):c.6049-3C>T
|
rs143900018
|
0.00022
|
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)
|
rs200606995
|
0.00022
|
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe)
|
rs542973906
|
0.00021
|
NM_001127644.2(GABRA1):c.886T>C (p.Leu296=)
|
rs149677108
|
0.00021
|
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=)
|
rs377227885
|
0.00021
|
NM_018100.4(EFHC1):c.550G>T (p.Val184Phe)
|
rs558446131
|
0.00021
|
NM_021098.3(CACNA1H):c.2349C>T (p.Ser783=)
|
rs367722258
|
0.00021
|
NM_021098.3(CACNA1H):c.2561G>A (p.Arg854Gln)
|
rs370088144
|
0.00021
|
NM_021098.3(CACNA1H):c.314T>G (p.Val105Gly)
|
rs57552791
|
0.00021
|
NM_021098.3(CACNA1H):c.3846-4C>T
|
rs370085940
|
0.00021
|
NM_021098.3(CACNA1H):c.4062C>T (p.Ser1354=)
|
rs376236175
|
0.00021
|
NM_021098.3(CACNA1H):c.4378G>A (p.Glu1460Lys)
|
rs755817927
|
0.00021
|
NM_021098.3(CACNA1H):c.463A>T (p.Met155Leu)
|
rs1045818263
|
0.00021
|
NM_021098.3(CACNA1H):c.5244+14G>A
|
rs370552821
|
0.00021
|
NM_021098.3(CACNA1H):c.624C>T (p.Arg208=)
|
rs56816479
|
0.00021
|
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)
|
rs59103647
|
0.00021
|
NM_021098.3(CACNA1H):c.6741G>A (p.Lys2247=)
|
rs373830807
|
0.00021
|
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His)
|
rs201651793
|
0.00021
|
NM_001127644.2(GABRA1):c.74+19A>G
|
rs370522819
|
0.00020
|
NM_021098.3(CACNA1H):c.2069C>T (p.Ala690Val)
|
rs61018135
|
0.00020
|
NM_021098.3(CACNA1H):c.2452-7C>T
|
rs28365121
|
0.00020
|
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=)
|
rs150727562
|
0.00020
|
NM_000811.3(GABRA6):c.339G>A (p.Thr113=)
|
rs113239794
|
0.00019
|
NM_001350451.2(RBFOX3):c.622+19C>A
|
rs578218089
|
0.00019
|
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)
|
rs139197513
|
0.00019
|
NM_018100.4(EFHC1):c.911A>G (p.Asn304Ser)
|
rs142107827
|
0.00019
|
NM_021098.3(CACNA1H):c.2216G>A (p.Arg739His)
|
rs372759314
|
0.00019
|
NM_021098.3(CACNA1H):c.2540G>T (p.Cys847Phe)
|
rs202019417
|
0.00019
|
NM_021098.3(CACNA1H):c.3363+6G>A
|
rs574199321
|
0.00019
|
NM_021098.3(CACNA1H):c.3742G>A (p.Asp1248Asn)
|
rs552269381
|
0.00019
|
NM_021098.3(CACNA1H):c.4759+8G>A
|
rs199997129
|
0.00019
|
NM_000814.6(GABRB3):c.1058G>A (p.Arg353His)
|
rs200057173
|
0.00018
|
NM_001350451.2(RBFOX3):c.436G>C (p.Glu146Gln)
|
rs1340183543
|
0.00018
|
NM_001350451.2(RBFOX3):c.568+13G>T
|
rs200580682
|
0.00018
|
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)
|
rs376935647
|
0.00018
|
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met)
|
rs201855332
|
0.00018
|
NM_021098.3(CACNA1H):c.4860C>T (p.Asp1620=)
|
rs201309183
|
0.00018
|
NM_145893.3(RBFOX1):c.32C>A (p.Pro11His)
|
rs145351963
|
0.00018
|
NM_198904.4(GABRG2):c.107+12C>T
|
rs369466385
|
0.00018
|
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=)
|
rs749951528
|
0.00018
|
NM_000815.5(GABRD):c.1344G>A (p.Ala448=)
|
rs144369244
|
0.00017
|
NM_000815.5(GABRD):c.555C>T (p.Tyr185=)
|
rs201112862
|
0.00017
|
NM_000815.5(GABRD):c.69-17T>G
|
rs546154012
|
0.00017
|
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser)
|
rs374272094
|
0.00017
|
NM_021098.3(CACNA1H):c.2604-5C>T
|
rs191783113
|
0.00017
|
NM_021098.3(CACNA1H):c.3063+18G>A
|
rs759182769
|
0.00017
|
NM_021098.3(CACNA1H):c.3561G>A (p.Gly1187=)
|
rs543668675
|
0.00017
|
NM_021098.3(CACNA1H):c.4038+14C>T
|
rs537875566
|
0.00017
|
NM_021098.3(CACNA1H):c.4777+5C>T
|
rs370513262
|
0.00017
|
NM_021098.3(CACNA1H):c.555G>A (p.Glu185=)
|
rs61700478
|
0.00017
|
NM_000815.5(GABRD):c.492C>T (p.Cys164=)
|
rs367776284
|
0.00016
|
NM_000815.5(GABRD):c.691+14G>A
|
rs200682047
|
0.00016
|
NM_001350451.2(RBFOX3):c.303A>G (p.Leu101=)
|
rs768508558
|
0.00016
|
NM_001350451.2(RBFOX3):c.72G>A (p.Pro24=)
|
rs776796401
|
0.00016
|
NM_001350451.2(RBFOX3):c.969C>T (p.Pro323=)
|
rs570994105
|
0.00016
|
NM_018723.4(RBFOX1):c.867G>T (p.Pro289=)
|
rs745729142
|
0.00016
|
NM_021098.3(CACNA1H):c.1005C>T (p.Asn335=)
|
rs59027754
|
0.00016
|
NM_021098.3(CACNA1H):c.1047G>A (p.Ser349=)
|
rs72552034
|
0.00016
|
NM_021098.3(CACNA1H):c.1053C>T (p.Asp351=)
|
rs200378845
|
0.00016
|
NM_021098.3(CACNA1H):c.2329C>T (p.Arg777Cys)
|
rs375325893
|
0.00016
|
NM_021098.3(CACNA1H):c.2790-5C>T
|
rs369327243
|
0.00016
|
NM_021098.3(CACNA1H):c.3845+16C>G
|
rs781551259
|
0.00016
|
NM_021098.3(CACNA1H):c.3846-8C>T
|
rs552720385
|
0.00016
|
NM_021098.3(CACNA1H):c.4534G>A (p.Asp1512Asn)
|
rs200709671
|
0.00016
|
NM_021098.3(CACNA1H):c.4608C>T (p.Ile1536=)
|
rs777641943
|
0.00016
|
NM_021098.3(CACNA1H):c.4650C>T (p.Phe1550=)
|
rs377021504
|
0.00016
|
NM_021098.3(CACNA1H):c.5174-5C>T
|
rs199536335
|
0.00016
|
NM_021098.3(CACNA1H):c.5340C>T (p.Asn1780=)
|
rs375620368
|
0.00016
|
NM_021098.3(CACNA1H):c.5468G>A (p.Arg1823His)
|
rs370384766
|
0.00016
|
NM_021098.3(CACNA1H):c.5547C>T (p.Phe1849=)
|
rs747094670
|
0.00016
|
NM_021098.3(CACNA1H):c.5887+13G>T
|
rs369077839
|
0.00016
|
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp)
|
rs771719773
|
0.00016
|
NM_021098.3(CACNA1H):c.6249G>A (p.Pro2083=)
|
rs376251979
|
0.00016
|
NM_021098.3(CACNA1H):c.6460T>A (p.Trp2154Arg)
|
rs767461657
|
0.00016
|
NM_021098.3(CACNA1H):c.6464G>A (p.Arg2155Gln)
|
rs377261049
|
0.00016
|
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe)
|
rs121913126
|
0.00016
|
NM_145893.3(RBFOX1):c.57G>A (p.Pro19=)
|
rs147261087
|
0.00016
|
NM_000814.6(GABRB3):c.585C>T (p.Gly195=)
|
rs781294125
|
0.00015
|
NM_000814.6(GABRB3):c.894C>T (p.Pro298=)
|
rs139378274
|
0.00015
|
NM_000815.5(GABRD):c.318C>T (p.Asn106=)
|
rs149832567
|
0.00015
|
NM_000815.5(GABRD):c.68+10C>T
|
rs994082959
|
0.00015
|
NM_001127644.2(GABRA1):c.1086T>C (p.Ile362=)
|
rs187648029
|
0.00015
|
NM_001127644.2(GABRA1):c.231C>T (p.Phe77=)
|
rs566224462
|
0.00015
|
NM_001127644.2(GABRA1):c.704-17T>G
|
rs115043829
|
0.00015
|
NM_001350451.2(RBFOX3):c.999-12G>A
|
rs918641407
|
0.00015
|
NM_018100.4(EFHC1):c.1369C>T (p.Arg457Cys)
|
rs373196171
|
0.00015
|
NM_021098.3(CACNA1H):c.2580C>T (p.Phe860=)
|
rs374317639
|
0.00015
|
NM_021098.3(CACNA1H):c.3012T>C (p.Tyr1004=)
|
rs537043174
|
0.00015
|
NM_021098.3(CACNA1H):c.5521G>A (p.Val1841Met)
|
rs370975488
|
0.00015
|
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)
|
rs200724225
|
0.00015
|
NM_021098.3(CACNA1H):c.690C>T (p.Leu230=)
|
rs376748975
|
0.00015
|
NM_021098.3(CACNA1H):c.915C>T (p.Ile305=)
|
rs370836939
|
0.00015
|
NM_198904.4(GABRG2):c.768C>T (p.Ser256=)
|
rs201672465
|
0.00015
|
NM_001350451.2(RBFOX3):c.970G>A (p.Ala324Thr)
|
rs112978510
|
0.00014
|
NM_018723.4(RBFOX1):c.1023C>G (p.Pro341=)
|
rs143601277
|
0.00014
|
NM_021098.3(CACNA1H):c.1068C>T (p.Asn356=)
|
rs369894677
|
0.00014
|
NM_021098.3(CACNA1H):c.1119+6C>T
|
rs372159580
|
0.00014
|
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)
|
rs535609762
|
0.00014
|
NM_021098.3(CACNA1H):c.2001T>A (p.His667Gln)
|
rs1180154075
|
0.00014
|
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)
|
rs368201539
|
0.00014
|
NM_021098.3(CACNA1H):c.2622G>T (p.Gly874=)
|
rs61747533
|
0.00014
|
NM_021098.3(CACNA1H):c.3644G>A (p.Arg1215His)
|
rs370838298
|
0.00014
|
NM_021098.3(CACNA1H):c.3969+12A>G
|
rs200138472
|
0.00014
|
NM_021098.3(CACNA1H):c.4777+6G>A
|
rs374875369
|
0.00014
|
NM_021098.3(CACNA1H):c.5665G>A (p.Gly1889Arg)
|
rs201018826
|
0.00014
|
NM_021098.3(CACNA1H):c.5912C>T (p.Pro1971Leu)
|
rs574952387
|
0.00014
|
NM_021098.3(CACNA1H):c.6849C>T (p.Asp2283=)
|
rs369051137
|
0.00014
|
NM_198904.4(GABRG2):c.11C>T (p.Pro4Leu)
|
rs375295110
|
0.00014
|
NM_198904.4(GABRG2):c.243T>A (p.Leu81=)
|
rs143295869
|
0.00014
|
NM_000726.5(CACNB4):c.1355G>A (p.Arg452Lys)
|
rs762394421
|
0.00013
|
NM_000815.5(GABRD):c.942C>T (p.Phe314=)
|
rs139676179
|
0.00013
|
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser)
|
rs143815396
|
0.00013
|
NM_001350451.2(RBFOX3):c.1029G>A (p.Pro343=)
|
rs373093807
|
0.00013
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
NM_018100.4(EFHC1):c.54G>T (p.Lys18Asn)
|
rs146467751
|
0.00013
|
NM_021098.3(CACNA1H):c.2346C>A (p.Phe782Leu)
|
rs780502055
|
0.00013
|
NM_021098.3(CACNA1H):c.3042C>T (p.Leu1014=)
|
rs372665410
|
0.00013
|
NM_021098.3(CACNA1H):c.3363+12C>G
|
rs749123905
|
0.00013
|
NM_021098.3(CACNA1H):c.4536C>T (p.Asp1512=)
|
rs370484391
|
0.00013
|
NM_021098.3(CACNA1H):c.5832C>T (p.His1944=)
|
rs372529098
|
0.00013
|
NM_021098.3(CACNA1H):c.6144G>A (p.Pro2048=)
|
rs759924315
|
0.00013
|
NM_021098.3(CACNA1H):c.6235G>A (p.Val2079Ile)
|
rs367607849
|
0.00013
|
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu)
|
rs748980218
|
0.00013
|
NM_021098.3(CACNA1H):c.6623C>T (p.Ala2208Val)
|
rs777217625
|
0.00013
|
NM_145893.3(RBFOX1):c.51T>C (p.Ile17=)
|
rs781023213
|
0.00013
|
NC_000015.10:g.26773866C>A
|
rs563217194
|
0.00012
|
NM_000814.6(GABRB3):c.675C>T (p.Phe225=)
|
rs201004195
|
0.00012
|
NM_001127644.2(GABRA1):c.1079C>A (p.Pro360His)
|
rs80337021
|
0.00012
|
NM_001350451.2(RBFOX3):c.568+6G>C
|
rs953699995
|
0.00012
|
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu)
|
rs369926953
|
0.00012
|
NM_018723.4(RBFOX1):c.979G>A (p.Ala327Thr)
|
rs139929599
|
0.00012
|
NM_021098.3(CACNA1H):c.1269G>A (p.Ser423=)
|
rs368956894
|
0.00012
|
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His)
|
rs545918011
|
0.00012
|
NM_021098.3(CACNA1H):c.1623C>T (p.Pro541=)
|
rs773501953
|
0.00012
|
NM_021098.3(CACNA1H):c.3330C>T (p.Ser1110=)
|
rs761381340
|
0.00012
|
NM_021098.3(CACNA1H):c.3462C>T (p.Leu1154=)
|
rs940068732
|
0.00012
|
NM_021098.3(CACNA1H):c.3778C>G (p.Pro1260Ala)
|
rs765647810
|
0.00012
|
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val)
|
rs72552053
|
0.00012
|
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys)
|
rs376607278
|
0.00012
|
NM_000814.6(GABRB3):c.683-7C>A
|
rs759453899
|
0.00011
|
NM_000815.5(GABRD):c.1314G>A (p.Ala438=)
|
rs138909980
|
0.00011
|
NM_000815.5(GABRD):c.444C>T (p.Pro148=)
|
rs373608463
|
0.00011
|
NM_000815.5(GABRD):c.730C>T (p.Arg244Trp)
|
rs150097692
|
0.00011
|
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=)
|
rs374616425
|
0.00011
|
NM_001350451.2(RBFOX3):c.755+18G>A
|
rs755771324
|
0.00011
|
NM_021098.3(CACNA1H):c.1029C>T (p.Tyr343=)
|
rs375894182
|
0.00011
|
NM_021098.3(CACNA1H):c.1167C>T (p.Asp389=)
|
rs41292281
|
0.00011
|
NM_021098.3(CACNA1H):c.1722C>T (p.Ser574=)
|
rs763201457
|
0.00011
|
NM_021098.3(CACNA1H):c.1794C>T (p.Ala598=)
|
rs369322856
|
0.00011
|
NM_021098.3(CACNA1H):c.1891G>A (p.Gly631Arg)
|
rs369898856
|
0.00011
|
NM_021098.3(CACNA1H):c.1944G>A (p.Pro648=)
|
rs766161313
|
0.00011
|
NM_021098.3(CACNA1H):c.2003-4G>A
|
rs778702970
|
0.00011
|
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys)
|
rs56930579
|
0.00011
|
NM_021098.3(CACNA1H):c.2199C>T (p.Asp733=)
|
rs536342720
|
0.00011
|
NM_021098.3(CACNA1H):c.2307G>A (p.Pro769=)
|
rs61072201
|
0.00011
|
NM_021098.3(CACNA1H):c.300-8G>A
|
rs3751662
|
0.00011
|
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)
|
rs374847612
|
0.00011
|
NM_021098.3(CACNA1H):c.3744+8C>T
|
rs373354560
|
0.00011
|
NM_021098.3(CACNA1H):c.4018G>A (p.Val1340Met)
|
rs747265858
|
0.00011
|
NM_021098.3(CACNA1H):c.4621A>G (p.Ile1541Val)
|
rs770398676
|
0.00011
|
NM_021098.3(CACNA1H):c.4677C>T (p.His1559=)
|
rs370998291
|
0.00011
|
NM_021098.3(CACNA1H):c.5621C>T (p.Ala1874Val)
|
rs374807892
|
0.00011
|
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)
|
rs60040113
|
0.00011
|
NM_021098.3(CACNA1H):c.6871G>A (p.Glu2291Lys)
|
rs376919826
|
0.00011
|
NM_021098.3(CACNA1H):c.706C>T (p.Leu236=)
|
rs748968251
|
0.00011
|
NM_198904.4(GABRG2):c.1122A>G (p.Lys374=)
|
rs776166431
|
0.00011
|
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala)
|
rs757868774
|
0.00011
|
NM_198904.4(GABRG2):c.162A>G (p.Thr54=)
|
rs748255945
|
0.00011
|
NM_000814.6(GABRB3):c.1081-10G>A
|
rs200137318
|
0.00010
|
NM_000814.6(GABRB3):c.1081-11C>T
|
rs370945916
|
0.00010
|
NM_000814.6(GABRB3):c.1113G>A (p.Ser371=)
|
rs139370891
|
0.00010
|
NM_000814.6(GABRB3):c.255C>T (p.Thr85=)
|
rs372195395
|
0.00010
|
NM_000815.5(GABRD):c.1252C>T (p.Arg418Trp)
|
rs200019257
|
0.00010
|
NM_001350451.2(RBFOX3):c.141G>C (p.Leu47=)
|
rs367559413
|
0.00010
|
NM_001350451.2(RBFOX3):c.360+11G>A
|
rs377759206
|
0.00010
|
NM_001350451.2(RBFOX3):c.603C>T (p.Tyr201=)
|
rs377709616
|
0.00010
|
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu)
|
rs369468811
|
0.00010
|
NM_018100.4(EFHC1):c.484C>T (p.His162Tyr)
|
rs112800954
|
0.00010
|
NM_018100.4(EFHC1):c.731G>A (p.Arg244Gln)
|
rs140476054
|
0.00010
|
NM_018100.4(EFHC1):c.912T>C (p.Asn304=)
|
rs373638109
|
0.00010
|
NM_018723.4(RBFOX1):c.52C>G (p.Pro18Ala)
|
rs149974858
|
0.00010
|
NM_018723.4(RBFOX1):c.795C>T (p.Ala265=)
|
rs376576588
|
0.00010
|
NM_018723.4(RBFOX1):c.890+17C>T
|
rs1285678739
|
0.00010
|
NM_021098.3(CACNA1H):c.1197C>T (p.Phe399=)
|
rs370035989
|
0.00010
|
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)
|
rs377061296
|
0.00010
|
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)
|
rs548407874
|
0.00010
|
NM_021098.3(CACNA1H):c.1890C>T (p.Pro630=)
|
rs755382298
|
0.00010
|
NM_021098.3(CACNA1H):c.2545C>T (p.Pro849Ser)
|
rs370675810
|
0.00010
|
NM_021098.3(CACNA1H):c.2907+9C>T
|
rs200631961
|
0.00010
|
NM_021098.3(CACNA1H):c.3988G>A (p.Val1330Ile)
|
rs28365125
|
0.00010
|
NM_021098.3(CACNA1H):c.421G>A (p.Ala141Thr)
|
rs202090928
|
0.00010
|
NM_021098.3(CACNA1H):c.4287C>A (p.Pro1429=)
|
rs371310397
|
0.00010
|
NM_021098.3(CACNA1H):c.4739G>A (p.Arg1580His)
|
rs200627008
|
0.00010
|
NM_021098.3(CACNA1H):c.4836G>A (p.Ser1612=)
|
rs58033848
|
0.00010
|
NM_021098.3(CACNA1H):c.5244+10G>T
|
rs377293771
|
0.00010
|
NM_021098.3(CACNA1H):c.5295G>A (p.Ala1765=)
|
rs529851125
|
0.00010
|
NM_021098.3(CACNA1H):c.5445+10G>A
|
rs376851953
|
0.00010
|
NM_021098.3(CACNA1H):c.6639C>T (p.Ser2213=)
|
rs768323761
|
0.00010
|
NM_000726.5(CACNB4):c.1031G>A (p.Arg344Gln)
|
rs776608168
|
0.00009
|
NM_000726.5(CACNB4):c.91A>C (p.Ser31Arg)
|
rs773391545
|
0.00009
|
NM_000814.6(GABRB3):c.80+13G>A
|
rs749065228
|
0.00009
|
NM_000815.5(GABRD):c.1166G>C (p.Gly389Ala)
|
rs372742962
|
0.00009
|
NM_000815.5(GABRD):c.1222C>T (p.Arg408Cys)
|
rs200430448
|
0.00009
|
NM_000815.5(GABRD):c.153C>T (p.Tyr51=)
|
rs148496176
|
0.00009
|
NM_000815.5(GABRD):c.267G>A (p.Val89=)
|
rs377536787
|
0.00009
|
NM_001350451.2(RBFOX3):c.343T>C (p.Leu115=)
|
rs779066017
|
0.00009
|
NM_001350451.2(RBFOX3):c.945C>T (p.Tyr315=)
|
rs992186015
|
0.00009
|
NM_018100.4(EFHC1):c.1385T>C (p.Ile462Thr)
|
rs200116252
|
0.00009
|
NM_018100.4(EFHC1):c.1768G>C (p.Ala590Pro)
|
rs749376467
|
0.00009
|
NM_018100.4(EFHC1):c.574G>A (p.Val192Ile)
|
rs781665913
|
0.00009
|
NM_018723.4(RBFOX1):c.643G>C (p.Val215Leu)
|
rs141994899
|
0.00009
|
NM_018723.4(RBFOX1):c.708G>A (p.Glu236=)
|
rs368113568
|
0.00009
|
NM_018723.4(RBFOX1):c.753T>C (p.Ser251=)
|
rs372725346
|
0.00009
|
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)
|
rs374363044
|
0.00009
|
NM_021098.3(CACNA1H):c.1639G>A (p.Asp547Asn)
|
rs932161061
|
0.00009
|
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu)
|
rs771714007
|
0.00009
|
NM_021098.3(CACNA1H):c.1674G>A (p.Ser558=)
|
rs777311819
|
0.00009
|
NM_021098.3(CACNA1H):c.1769G>A (p.Arg590Gln)
|
rs748210497
|
0.00009
|
NM_021098.3(CACNA1H):c.1911C>T (p.Ala637=)
|
rs539497900
|
0.00009
|
NM_021098.3(CACNA1H):c.1942C>T (p.Pro648Ser)
|
rs373669637
|
0.00009
|
NM_021098.3(CACNA1H):c.2103G>A (p.Pro701=)
|
rs59906488
|
0.00009
|
NM_021098.3(CACNA1H):c.2203C>T (p.Arg735Trp)
|
rs191938566
|
0.00009
|
NM_021098.3(CACNA1H):c.2244G>A (p.Ala748=)
|
rs372743868
|
0.00009
|
NM_021098.3(CACNA1H):c.2742C>T (p.Asn914=)
|
rs375091126
|
0.00009
|
NM_021098.3(CACNA1H):c.3300C>T (p.Leu1100=)
|
rs568667163
|
0.00009
|
NM_021098.3(CACNA1H):c.3543C>T (p.Asp1181=)
|
rs958144782
|
0.00009
|
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys)
|
rs756154211
|
0.00009
|
NM_021098.3(CACNA1H):c.3658C>G (p.Gln1220Glu)
|
rs775405041
|
0.00009
|
NM_021098.3(CACNA1H):c.3744+9G>A
|
rs377367672
|
0.00009
|
NM_021098.3(CACNA1H):c.3974G>A (p.Arg1325Gln)
|
rs949170696
|
0.00009
|
NM_021098.3(CACNA1H):c.433G>A (p.Ala145Thr)
|
rs200483658
|
0.00009
|
NM_021098.3(CACNA1H):c.4371C>T (p.Tyr1457=)
|
rs72552043
|
0.00009
|
NM_021098.3(CACNA1H):c.4445G>A (p.Arg1482Gln)
|
rs372132309
|
0.00009
|
NM_021098.3(CACNA1H):c.4659C>T (p.Val1553=)
|
rs372465474
|
0.00009
|
NM_021098.3(CACNA1H):c.4760-8C>T
|
rs375086726
|
0.00009
|
NM_021098.3(CACNA1H):c.4812G>A (p.Ser1604=)
|
rs377611664
|
0.00009
|
NM_021098.3(CACNA1H):c.5081T>C (p.Met1694Thr)
|
rs375015931
|
0.00009
|
NM_021098.3(CACNA1H):c.543G>A (p.Ala181=)
|
rs781049180
|
0.00009
|
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro)
|
rs61742096
|
0.00009
|
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)
|
rs750277154
|
0.00009
|
NM_021098.3(CACNA1H):c.6143C>T (p.Pro2048Leu)
|
rs535814707
|
0.00009
|
NM_021098.3(CACNA1H):c.663T>A (p.Thr221=)
|
rs368713417
|
0.00009
|
NM_021098.3(CACNA1H):c.6808C>T (p.Pro2270Ser)
|
rs369693777
|
0.00009
|
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp)
|
rs199664795
|
0.00009
|
NM_145893.3(RBFOX1):c.83T>C (p.Ile28Thr)
|
rs147525462
|
0.00009
|
NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=)
|
rs762386331
|
0.00009
|
NM_000726.5(CACNB4):c.186C>T (p.Ser62=)
|
rs371263141
|
0.00008
|
NM_000726.5(CACNB4):c.771G>A (p.Thr257=)
|
rs2293219
|
0.00008
|
NM_000815.5(GABRD):c.1005C>T (p.Ala335=)
|
rs370201162
|
0.00008
|
NM_000815.5(GABRD):c.668C>T (p.Thr223Met)
|
rs369511458
|
0.00008
|
NM_000815.5(GABRD):c.96G>C (p.Val32=)
|
rs773911493
|
0.00008
|
NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)
|
rs377732929
|
0.00008
|
NM_018100.4(EFHC1):c.266A>G (p.His89Arg)
|
rs543160745
|
0.00008
|
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)
|
rs145754721
|
0.00008
|
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met)
|
rs200435907
|
0.00008
|
NM_018723.4(RBFOX1):c.329C>T (p.Thr110Met)
|
rs200502098
|
0.00008
|
NM_018723.4(RBFOX1):c.931-5157G>C
|
rs375075227
|
0.00008
|
NM_021098.3(CACNA1H):c.105G>A (p.Ala35=)
|
rs1288966510
|
0.00008
|
NM_021098.3(CACNA1H):c.1275G>A (p.Thr425=)
|
rs773277660
|
0.00008
|
NM_021098.3(CACNA1H):c.149C>T (p.Pro50Leu)
|
rs746716155
|
0.00008
|
NM_021098.3(CACNA1H):c.2390G>A (p.Arg797His)
|
rs200791167
|
0.00008
|
NM_021098.3(CACNA1H):c.2452-13C>T
|
rs774710747
|
0.00008
|
NM_021098.3(CACNA1H):c.2452-15C>T
|
rs769067067
|
0.00008
|
NM_021098.3(CACNA1H):c.3163A>G (p.Met1055Val)
|
rs563037729
|
0.00008
|
NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly)
|
rs780122141
|
0.00008
|
NM_021098.3(CACNA1H):c.3472G>A (p.Gly1158Ser)
|
rs556556052
|
0.00008
|
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser)
|
rs780831084
|
0.00008
|
NM_021098.3(CACNA1H):c.3970-19C>A
|
rs374297068
|
0.00008
|
NM_021098.3(CACNA1H):c.3990C>G (p.Val1330=)
|
rs199736210
|
0.00008
|
NM_021098.3(CACNA1H):c.4164C>T (p.Gly1388=)
|
rs371007087
|
0.00008
|
NM_021098.3(CACNA1H):c.4567-15G>A
|
rs764345325
|
0.00008
|
NM_021098.3(CACNA1H):c.5040-3C>T
|
rs769178587
|
0.00008
|
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)
|
rs375518094
|
0.00008
|
NM_021098.3(CACNA1H):c.5760C>T (p.Ser1920=)
|
rs144424401
|
0.00008
|
NM_021098.3(CACNA1H):c.5976C>T (p.Gly1992=)
|
rs367929249
|
0.00008
|
NM_021098.3(CACNA1H):c.6605G>A (p.Gly2202Asp)
|
rs762635374
|
0.00008
|
NM_021098.3(CACNA1H):c.6618C>T (p.Pro2206=)
|
rs755043976
|
0.00008
|
NM_021098.3(CACNA1H):c.718G>A (p.Val240Ile)
|
rs369630836
|
0.00008
|
NM_021098.3(CACNA1H):c.801C>T (p.Val267=)
|
rs372726042
|
0.00008
|
NM_000811.3(GABRA6):c.1156G>A (p.Glu386Lys)
|
rs773585316
|
0.00007
|
NM_000815.5(GABRD):c.1350C>T (p.Tyr450=)
|
rs368462032
|
0.00007
|
NM_000815.5(GABRD):c.447C>T (p.Asp149=)
|
rs775338230
|
0.00007
|
NM_000815.5(GABRD):c.934G>A (p.Val312Ile)
|
rs774201718
|
0.00007
|
NM_001127644.2(GABRA1):c.1070T>C (p.Val357Ala)
|
rs749707253
|
0.00007
|
NM_001127644.2(GABRA1):c.846A>G (p.Arg282=)
|
rs139467768
|
0.00007
|
NM_001350451.2(RBFOX3):c.114G>A (p.Pro38=)
|
rs372250322
|
0.00007
|
NM_001350451.2(RBFOX3):c.257C>T (p.Pro86Leu)
|
rs377660420
|
0.00007
|
NM_001350451.2(RBFOX3):c.735C>G (p.Pro245=)
|
rs911540420
|
0.00007
|
NM_018100.4(EFHC1):c.344A>G (p.Tyr115Cys)
|
rs371610025
|
0.00007
|
NM_018723.4(RBFOX1):c.757+15G>A
|
rs200892489
|
0.00007
|
NM_021098.3(CACNA1H):c.1224C>T (p.Phe408=)
|
rs376394318
|
0.00007
|
NM_021098.3(CACNA1H):c.1266C>T (p.Phe422=)
|
rs779220684
|
0.00007
|
NM_021098.3(CACNA1H):c.1543C>T (p.His515Tyr)
|
rs368210728
|
0.00007
|
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)
|
rs539324457
|
0.00007
|
NM_021098.3(CACNA1H):c.1788C>T (p.Ala596=)
|
rs147877708
|
0.00007
|
NM_021098.3(CACNA1H):c.1828A>G (p.Thr610Ala)
|
rs201449513
|
0.00007
|
NM_021098.3(CACNA1H):c.2294A>G (p.Gln765Arg)
|
rs372489040
|
0.00007
|
NM_021098.3(CACNA1H):c.273C>T (p.Ser91=)
|
rs1043511168
|
0.00007
|
NM_021098.3(CACNA1H):c.2907+8C>G
|
rs374392186
|
0.00007
|
NM_021098.3(CACNA1H):c.2937C>G (p.Val979=)
|
rs770074317
|
0.00007
|
NM_021098.3(CACNA1H):c.3114C>T (p.Phe1038=)
|
rs374946880
|
0.00007
|
NM_021098.3(CACNA1H):c.3155-11C>G
|
rs371691311
|
0.00007
|
NM_021098.3(CACNA1H):c.3283G>A (p.Asp1095Asn)
|
rs748648178
|
0.00007
|
NM_021098.3(CACNA1H):c.3507C>T (p.Gly1169=)
|
rs200522574
|
0.00007
|
NM_021098.3(CACNA1H):c.3519C>T (p.Gly1173=)
|
rs753767261
|
0.00007
|
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)
|
rs576035669
|
0.00007
|
NM_021098.3(CACNA1H):c.4394G>A (p.Arg1465Lys)
|
rs562634730
|
0.00007
|
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr)
|
rs374265107
|
0.00007
|
NM_021098.3(CACNA1H):c.5313C>T (p.Phe1771=)
|
rs372640825
|
0.00007
|
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile)
|
rs575909585
|
0.00007
|
NM_021098.3(CACNA1H):c.5904G>T (p.Val1968=)
|
rs899692720
|
0.00007
|
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile)
|
rs370883583
|
0.00007
|
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)
|
rs369185359
|
0.00007
|
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)
|
rs763675499
|
0.00007
|
NM_021098.3(CACNA1H):c.6781C>T (p.Leu2261=)
|
rs774253114
|
0.00007
|
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)
|
rs201577113
|
0.00007
|
NM_198904.4(GABRG2):c.1153-7G>A
|
rs372884176
|
0.00007
|
NM_198904.4(GABRG2):c.135C>T (p.Asp45=)
|
rs375308385
|
0.00007
|
NM_198904.4(GABRG2):c.769+18A>G
|
rs2422105
|
0.00007
|
NM_000726.5(CACNB4):c.620C>T (p.Thr207Met)
|
rs750116399
|
0.00006
|
NM_000814.6(GABRB3):c.1110A>G (p.Thr370=)
|
rs200523834
|
0.00006
|
NM_000814.6(GABRB3):c.357C>T (p.Pro119=)
|
rs370237352
|
0.00006
|
NM_000814.6(GABRB3):c.39C>T (p.Phe13=)
|
rs761422251
|
0.00006
|
NM_000814.6(GABRB3):c.627G>A (p.Pro209=)
|
rs146431931
|
0.00006
|
NM_000814.6(GABRB3):c.81-16C>T
|
rs769413892
|
0.00006
|
NM_000814.6(GABRB3):c.835+5G>A
|
rs374357218
|
0.00006
|
NM_000815.5(GABRD):c.522C>T (p.Asp174=)
|
rs534661864
|
0.00006
|
NM_000815.5(GABRD):c.747G>C (p.Val249=)
|
rs199993714
|
0.00006
|
NM_001127644.2(GABRA1):c.704-10T>C
|
rs188133840
|
0.00006
|
NM_001350451.2(RBFOX3):c.33C>A (p.Pro11=)
|
rs530721444
|
0.00006
|
NM_001350451.2(RBFOX3):c.999-13C>T
|
rs934108895
|
0.00006
|
NM_001350451.2(RBFOX3):c.9G>A (p.Gln3=)
|
rs904015242
|
0.00006
|
NM_018100.4(EFHC1):c.1223A>T (p.Asp408Val)
|
rs773810917
|
0.00006
|
NM_018100.4(EFHC1):c.1279-4G>C
|
rs372831217
|
0.00006
|
NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys)
|
rs377286138
|
0.00006
|
NM_018100.4(EFHC1):c.1335T>C (p.Ala445=)
|
rs767652099
|
0.00006
|
NM_018100.4(EFHC1):c.1338C>T (p.Thr446=)
|
rs546464826
|
0.00006
|
NM_018100.4(EFHC1):c.1584C>T (p.Leu528=)
|
rs774640110
|
0.00006
|
NM_018100.4(EFHC1):c.1665C>T (p.Gly555=)
|
rs369201702
|
0.00006
|
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)
|
rs369503191
|
0.00006
|
NM_018100.4(EFHC1):c.1836C>T (p.Asp612=)
|
rs137869409
|
0.00006
|
NM_018100.4(EFHC1):c.1852-6C>G
|
rs372507832
|
0.00006
|
NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)
|
rs142458862
|
0.00006
|
NM_018100.4(EFHC1):c.1A>G (p.Met1Val)
|
rs201520866
|
0.00006
|
NM_018100.4(EFHC1):c.350T>C (p.Ile117Thr)
|
rs201616140
|
0.00006
|
NM_018100.4(EFHC1):c.457C>T (p.Arg153Trp)
|
rs373625101
|
0.00006
|
NM_018100.4(EFHC1):c.742A>G (p.Ile248Val)
|
rs780571007
|
0.00006
|
NM_018723.4(RBFOX1):c.1017C>T (p.Ala339=)
|
rs148909710
|
0.00006
|
NM_018723.4(RBFOX1):c.1032C>T (p.His344=)
|
rs534312610
|
0.00006
|
NM_018723.4(RBFOX1):c.1050C>A (p.Pro350=)
|
rs141919506
|
0.00006
|
NM_018723.4(RBFOX1):c.330G>A (p.Thr110=)
|
rs772231726
|
0.00006
|
NM_018723.4(RBFOX1):c.615T>C (p.Tyr205=)
|
rs764254377
|
0.00006
|
NM_018723.4(RBFOX1):c.996-19A>C
|
rs200846246
|
0.00006
|
NM_018723.4(RBFOX1):c.999C>T (p.Tyr333=)
|
rs368442088
|
0.00006
|
NM_021098.3(CACNA1H):c.1213-8C>T
|
rs745805314
|
0.00006
|
NM_021098.3(CACNA1H):c.1453C>T (p.Arg485Cys)
|
rs765665281
|
0.00006
|
NM_021098.3(CACNA1H):c.1476C>T (p.Pro492=)
|
rs757110424
|
0.00006
|
NM_021098.3(CACNA1H):c.1617C>T (p.Pro539=)
|
rs914641626
|
0.00006
|
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg)
|
rs776058661
|
0.00006
|
NM_021098.3(CACNA1H):c.1755G>A (p.Pro585=)
|
rs375390442
|
0.00006
|
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser)
|
rs147702970
|
0.00006
|
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys)
|
rs371167728
|
0.00006
|
NM_021098.3(CACNA1H):c.2296A>T (p.Arg766Trp)
|
rs573493037
|
0.00006
|
NM_021098.3(CACNA1H):c.240C>T (p.Phe80=)
|
rs772150091
|
0.00006
|
NM_021098.3(CACNA1H):c.2789+7G>A
|
rs376597423
|
0.00006
|
NM_021098.3(CACNA1H):c.2789+8C>A
|
rs367549572
|
0.00006
|
NM_021098.3(CACNA1H):c.2877C>T (p.Ser959=)
|
rs200038089
|
0.00006
|
NM_021098.3(CACNA1H):c.2889C>T (p.Ala963=)
|
rs56990251
|
0.00006
|
NM_021098.3(CACNA1H):c.2908-19G>T
|
rs764138322
|
0.00006
|
NM_021098.3(CACNA1H):c.2961C>T (p.Thr987=)
|
rs535742093
|
0.00006
|
NM_021098.3(CACNA1H):c.3060G>A (p.Ala1020=)
|
rs369924266
|
0.00006
|
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)
|
rs377549389
|
0.00006
|
NM_021098.3(CACNA1H):c.3147G>C (p.Gln1049His)
|
rs61642542
|
0.00006
|
NM_021098.3(CACNA1H):c.3155-5C>T
|
rs143582273
|
0.00006
|
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)
|
rs538758039
|
0.00006
|
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)
|
rs753993842
|
0.00006
|
NM_021098.3(CACNA1H):c.3471C>T (p.Arg1157=)
|
rs777626104
|
0.00006
|
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val)
|
rs769568324
|
0.00006
|
NM_021098.3(CACNA1H):c.3573C>T (p.Thr1191=)
|
rs555890424
|
0.00006
|
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)
|
rs759668583
|
0.00006
|
NM_021098.3(CACNA1H):c.3582G>A (p.Arg1194=)
|
rs765311471
|
0.00006
|
NM_021098.3(CACNA1H):c.3684C>T (p.Phe1228=)
|
rs369508525
|
0.00006
|
NM_021098.3(CACNA1H):c.3931A>G (p.Ile1311Val)
|
rs754671059
|
0.00006
|
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr)
|
rs200400235
|
0.00006
|
NM_021098.3(CACNA1H):c.4350+16G>A
|
rs372361783
|
0.00006
|
NM_021098.3(CACNA1H):c.4426G>A (p.Ala1476Thr)
|
rs374297889
|
0.00006
|
NM_021098.3(CACNA1H):c.4567-4A>G
|
rs1055632728
|
0.00006
|
NM_021098.3(CACNA1H):c.4735C>T (p.Arg1579Trp)
|
rs373867411
|
0.00006
|
NM_021098.3(CACNA1H):c.4737G>A (p.Arg1579=)
|
rs201270662
|
0.00006
|
NM_021098.3(CACNA1H):c.4777+17G>A
|
rs372843972
|
0.00006
|
NM_021098.3(CACNA1H):c.4930-17C>T
|
rs368265069
|
0.00006
|
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)
|
rs375017750
|
0.00006
|
NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln)
|
rs149367557
|
0.00006
|
NM_021098.3(CACNA1H):c.5039+16C>T
|
rs58019636
|
0.00006
|
NM_021098.3(CACNA1H):c.5173+11G>A
|
rs369914581
|
0.00006
|
NM_021098.3(CACNA1H):c.5174-20C>T
|
rs749624753
|
0.00006
|
NM_021098.3(CACNA1H):c.5208C>T (p.Arg1736=)
|
rs112395878
|
0.00006
|
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)
|
rs374558503
|
0.00006
|
NM_021098.3(CACNA1H):c.5373C>T (p.Phe1791=)
|
rs534503991
|
0.00006
|
NM_021098.3(CACNA1H):c.5433C>T (p.Asn1811=)
|
rs61467431
|
0.00006
|
NM_021098.3(CACNA1H):c.5467C>T (p.Arg1823Cys)
|
rs60760436
|
0.00006
|
NM_021098.3(CACNA1H):c.5499G>A (p.Pro1833=)
|
rs752720980
|
0.00006
|
NM_021098.3(CACNA1H):c.5511C>T (p.Pro1837=)
|
rs58819745
|
0.00006
|
NM_021098.3(CACNA1H):c.5519T>G (p.Phe1840Cys)
|
rs755405205
|
0.00006
|
NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr)
|
rs375010790
|
0.00006
|
NM_021098.3(CACNA1H):c.5622G>A (p.Ala1874=)
|
rs765687202
|
0.00006
|
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)
|
rs749054531
|
0.00006
|
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=)
|
rs765457704
|
0.00006
|
NM_021098.3(CACNA1H):c.6001C>T (p.Arg2001Trp)
|
rs763114755
|
0.00006
|
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)
|
rs554063452
|
0.00006
|
NM_021098.3(CACNA1H):c.6049-10G>A
|
rs199547941
|
0.00006
|
NM_021098.3(CACNA1H):c.6328C>T (p.Pro2110Ser)
|
rs746537400
|
0.00006
|
NM_021098.3(CACNA1H):c.6388C>T (p.Arg2130Trp)
|
rs771195242
|
0.00006
|
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)
|
rs755669926
|
0.00006
|
NM_021098.3(CACNA1H):c.6429C>T (p.Phe2143=)
|
rs565607103
|
0.00006
|
NM_021098.3(CACNA1H):c.643+16C>T
|
rs200284275
|
0.00006
|
NM_021098.3(CACNA1H):c.6444C>T (p.Gly2148=)
|
rs769867201
|
0.00006
|
NM_021098.3(CACNA1H):c.6720C>G (p.Ala2240=)
|
rs375725132
|
0.00006
|
NM_021098.3(CACNA1H):c.803+17C>T
|
rs375740846
|
0.00006
|
NM_021098.3(CACNA1H):c.936C>T (p.Arg312=)
|
rs780299000
|
0.00006
|
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)
|
rs367584657
|
0.00006
|
NM_145893.3(RBFOX1):c.9G>A (p.Ala3=)
|
rs771567004
|
0.00006
|
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=)
|
rs113085352
|
0.00006
|
NM_198904.4(GABRG2):c.36A>T (p.Ser12=)
|
rs762058667
|
0.00006
|
NM_198904.4(GABRG2):c.409T>C (p.Leu137=)
|
rs200828542
|
0.00006
|
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys)
|
rs61750979
|
0.00006
|
NM_198904.4(GABRG2):c.632-6C>T
|
rs199883385
|
0.00006
|
NM_198904.4(GABRG2):c.643C>T (p.Arg215Cys)
|
rs746626989
|
0.00006
|
NM_198904.4(GABRG2):c.690C>T (p.Gly230=)
|
rs747988447
|
0.00006
|
NM_198904.4(GABRG2):c.999A>T (p.Thr333=)
|
rs377638785
|
0.00006
|
NM_000726.5(CACNB4):c.1107A>G (p.Gln369=)
|
rs201700362
|
0.00005
|
NM_000726.5(CACNB4):c.1358G>T (p.Arg453Leu)
|
rs768245741
|
0.00005
|
NM_000726.5(CACNB4):c.1418G>A (p.Arg473His)
|
rs368111233
|
0.00005
|
NM_000814.6(GABRB3):c.1338T>C (p.Asn446=)
|
rs370026053
|
0.00005
|
NM_000814.6(GABRB3):c.589G>A (p.Asp197Asn)
|
rs375461837
|
0.00005
|
NM_000815.5(GABRD):c.105C>T (p.Asn35=)
|
rs113473839
|
0.00005
|
NM_000815.5(GABRD):c.690C>T (p.Ser230=)
|
rs146193210
|
0.00005
|
NM_000815.5(GABRD):c.822G>A (p.Ala274=)
|
rs769125045
|
0.00005
|
NM_001127644.2(GABRA1):c.954C>T (p.Ala318=)
|
rs551045474
|
0.00005
|
NM_001350451.2(RBFOX3):c.1014C>T (p.Tyr338=)
|
rs780661784
|
0.00005
|
NM_001350451.2(RBFOX3):c.237G>A (p.Ala79=)
|
rs770647329
|
0.00005
|
NM_001350451.2(RBFOX3):c.61G>A (p.Glu21Lys)
|
rs1055293531
|
0.00005
|
NM_001350451.2(RBFOX3):c.622+14C>T
|
rs1028999714
|
0.00005
|
NM_001350451.2(RBFOX3):c.755+16G>A
|
rs951953480
|
0.00005
|
NM_018100.4(EFHC1):c.1274T>G (p.Val425Gly)
|
rs529767823
|
0.00005
|
NM_018100.4(EFHC1):c.1523C>G (p.Thr508Arg)
|
rs200328198
|
0.00005
|
NM_018100.4(EFHC1):c.1886T>C (p.Ile629Thr)
|
rs199604518
|
0.00005
|
NM_018100.4(EFHC1):c.628G>A (p.Asp210Asn)
|
rs137852777
|
0.00005
|
NM_018723.4(RBFOX1):c.28-185047C>T
|
rs371603385
|
0.00005
|
NM_018723.4(RBFOX1):c.885C>T (p.Tyr295=)
|
rs774530398
|
0.00005
|
NM_021098.3(CACNA1H):c.1067A>G (p.Asn356Ser)
|
rs1967723771
|
0.00005
|
NM_021098.3(CACNA1H):c.1200C>T (p.Ile400=)
|
rs762744363
|
0.00005
|
NM_021098.3(CACNA1H):c.1221C>T (p.Ser407=)
|
rs370061462
|
0.00005
|
NM_021098.3(CACNA1H):c.132C>T (p.Ser44=)
|
rs1035051143
|
0.00005
|
NM_021098.3(CACNA1H):c.138C>T (p.Leu46=)
|
rs960225573
|
0.00005
|
NM_021098.3(CACNA1H):c.1441C>T (p.Arg481Cys)
|
rs577233623
|
0.00005
|
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)
|
rs768197900
|
0.00005
|
NM_021098.3(CACNA1H):c.1691G>A (p.Arg564His)
|
rs994418105
|
0.00005
|
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)
|
rs199920661
|
0.00005
|
NM_021098.3(CACNA1H):c.2255C>T (p.Pro752Leu)
|
rs761877111
|
0.00005
|
NM_021098.3(CACNA1H):c.238T>G (p.Phe80Val)
|
rs1372002770
|
0.00005
|
NM_021098.3(CACNA1H):c.2452-18C>T
|
rs924601477
|
0.00005
|
NM_021098.3(CACNA1H):c.2715C>T (p.Leu905=)
|
rs746896203
|
0.00005
|
NM_021098.3(CACNA1H):c.2811C>T (p.Phe937=)
|
rs372701359
|
0.00005
|
NM_021098.3(CACNA1H):c.2842G>A (p.Gly948Arg)
|
rs763407611
|
0.00005
|
NM_021098.3(CACNA1H):c.2992C>A (p.Leu998Ile)
|
rs768438272
|
0.00005
|
NM_021098.3(CACNA1H):c.299C>T (p.Pro100Leu)
|
rs765181693
|
0.00005
|
NM_021098.3(CACNA1H):c.3110A>G (p.His1037Arg)
|
rs752799249
|
0.00005
|
NM_021098.3(CACNA1H):c.3135C>G (p.Leu1045=)
|
rs560635024
|
0.00005
|
NM_021098.3(CACNA1H):c.3155-4G>A
|
rs543267343
|
0.00005
|
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His)
|
rs373762102
|
0.00005
|
NM_021098.3(CACNA1H):c.3525C>T (p.Thr1175=)
|
rs758067750
|
0.00005
|
NM_021098.3(CACNA1H):c.3858C>T (p.Ser1286=)
|
rs759645572
|
0.00005
|
NM_021098.3(CACNA1H):c.3861C>T (p.Cys1287=)
|
rs377055233
|
0.00005
|
NM_021098.3(CACNA1H):c.4039-17C>T
|
rs775820161
|
0.00005
|
NM_021098.3(CACNA1H):c.4223+14C>T
|
rs538104013
|
0.00005
|
NM_021098.3(CACNA1H):c.4558G>A (p.Asp1520Asn)
|
rs555853603
|
0.00005
|
NM_021098.3(CACNA1H):c.4657G>A (p.Val1553Ile)
|
rs759669950
|
0.00005
|
NM_021098.3(CACNA1H):c.4778-4G>A
|
rs779949902
|
0.00005
|
NM_021098.3(CACNA1H):c.5479C>T (p.His1827Tyr)
|
rs77104261
|
0.00005
|
NM_021098.3(CACNA1H):c.5635G>A (p.Glu1879Lys)
|
rs377103385
|
0.00005
|
NM_021098.3(CACNA1H):c.576C>T (p.Asn192=)
|
rs754501360
|
0.00005
|
NM_021098.3(CACNA1H):c.5811G>A (p.Val1937=)
|
rs371745750
|
0.00005
|
NM_021098.3(CACNA1H):c.5823G>A (p.Ser1941=)
|
rs377279064
|
0.00005
|
NM_021098.3(CACNA1H):c.5852T>A (p.Val1951Glu)
|
rs746967306
|
0.00005
|
NM_021098.3(CACNA1H):c.5888-16T>A
|
rs965860206
|
0.00005
|
NM_021098.3(CACNA1H):c.6014G>A (p.Arg2005His)
|
rs368553931
|
0.00005
|
NM_021098.3(CACNA1H):c.6426C>T (p.Gly2142=)
|
rs558837787
|
0.00005
|
NM_021098.3(CACNA1H):c.6446G>A (p.Arg2149Gln)
|
rs762634881
|
0.00005
|
NM_021098.3(CACNA1H):c.6504G>A (p.Ala2168=)
|
rs751933126
|
0.00005
|
NM_021098.3(CACNA1H):c.6532G>A (p.Ala2178Thr)
|
rs771909122
|
0.00005
|
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu)
|
rs748432349
|
0.00005
|
NM_021098.3(CACNA1H):c.6594G>A (p.Ala2198=)
|
rs368694810
|
0.00005
|
NM_021098.3(CACNA1H):c.6729C>A (p.Asp2243Glu)
|
rs534649086
|
0.00005
|
NM_021098.3(CACNA1H):c.699C>T (p.Val233=)
|
rs200398792
|
0.00005
|
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly)
|
rs200939989
|
0.00005
|
NM_198904.4(GABRG2):c.549-3T>G
|
rs750459631
|
0.00005
|
NM_198904.4(GABRG2):c.632-10C>A
|
rs144248417
|
0.00005
|
NM_000726.5(CACNB4):c.1302+7T>C
|
rs200945311
|
0.00004
|
NM_000726.5(CACNB4):c.1553A>G (p.His518Arg)
|
rs377492950
|
0.00004
|
NM_000726.5(CACNB4):c.34G>T (p.Ala12Ser)
|
rs958254778
|
0.00004
|
NM_000726.5(CACNB4):c.36G>A (p.Ala12=)
|
rs754380009
|
0.00004
|
NM_000726.5(CACNB4):c.438T>C (p.Cys146=)
|
rs373311758
|
0.00004
|
NM_000814.6(GABRB3):c.1057C>T (p.Arg353Cys)
|
rs775988401
|
0.00004
|
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His)
|
rs185383468
|
0.00004
|
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln)
|
rs76962261
|
0.00004
|
NM_000814.6(GABRB3):c.241-7465G>A
|
rs990895163
|
0.00004
|
NM_000814.6(GABRB3):c.471G>A (p.Thr157=)
|
rs143528720
|
0.00004
|
NM_000814.6(GABRB3):c.549C>T (p.Gly183=)
|
rs780056442
|
0.00004
|
NM_000814.6(GABRB3):c.650G>A (p.Arg217His)
|
rs121913125
|
0.00004
|
NM_000814.6(GABRB3):c.683-4A>G
|
rs776560822
|
0.00004
|
NM_000814.6(GABRB3):c.81-4C>G
|
rs1223039173
|
0.00004
|
NM_000814.6(GABRB3):c.87C>T (p.Asn29=)
|
rs772263479
|
0.00004
|
NM_000815.5(GABRD):c.1059+16C>T
|
rs541562450
|
0.00004
|
NM_000815.5(GABRD):c.1059+8C>T
|
rs752030520
|
0.00004
|
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp)
|
rs754636335
|
0.00004
|
NM_000815.5(GABRD):c.1203G>A (p.Thr401=)
|
rs1348578642
|
0.00004
|
NM_000815.5(GABRD):c.1219G>A (p.Ala407Thr)
|
rs143031542
|
0.00004
|
NM_000815.5(GABRD):c.1296C>T (p.Arg432=)
|
rs375374936
|
0.00004
|
NM_000815.5(GABRD):c.147C>T (p.Ala49=)
|
rs147463074
|
0.00004
|
NM_000815.5(GABRD):c.181+20C>T
|
rs753987467
|
0.00004
|
NM_000815.5(GABRD):c.384C>T (p.Asn128=)
|
rs767409551
|
0.00004
|
NM_000815.5(GABRD):c.408C>T (p.Asp136=)
|
rs201757318
|
0.00004
|
NM_000815.5(GABRD):c.470+9G>A
|
rs1045485424
|
0.00004
|
NM_000815.5(GABRD):c.471-8C>A
|
rs748813137
|
0.00004
|
NM_000815.5(GABRD):c.684C>T (p.Phe228=)
|
rs558718893
|
0.00004
|
NM_000815.5(GABRD):c.7G>T (p.Ala3Ser)
|
rs759523853
|
0.00004
|
NM_000815.5(GABRD):c.966T>C (p.Phe322=)
|
rs937477150
|
0.00004
|
NM_001127644.2(GABRA1):c.1218A>G (p.Pro406=)
|
rs371392768
|
0.00004
|
NM_001127644.2(GABRA1):c.1229A>G (p.Lys410Arg)
|
rs376031361
|
0.00004
|
NM_001127644.2(GABRA1):c.1284G>A (p.Pro428=)
|
rs74873701
|
0.00004
|
NM_001127644.2(GABRA1):c.216C>T (p.Ile72=)
|
rs200716712
|
0.00004
|
NM_001127644.2(GABRA1):c.476+16C>T
|
rs780581747
|
0.00004
|
NM_001127644.2(GABRA1):c.59C>T (p.Thr20Ile)
|
rs756553428
|
0.00004
|
NM_001127644.2(GABRA1):c.840A>G (p.Pro280=)
|
rs150497014
|
0.00004
|
NM_001127644.2(GABRA1):c.873C>T (p.Leu291=)
|
rs777911034
|
0.00004
|
NM_001127644.2(GABRA1):c.966C>T (p.Ala322=)
|
rs201133616
|
0.00004
|
NM_001350451.2(RBFOX3):c.1023C>T (p.Ala341=)
|
rs990728601
|
0.00004
|
NM_001350451.2(RBFOX3):c.1053G>A (p.Ala351=)
|
rs1305432887
|
0.00004
|
NM_001350451.2(RBFOX3):c.1078-3T>C
|
rs990360044
|
0.00004
|
NM_001350451.2(RBFOX3):c.232G>A (p.Glu78Lys)
|
rs1032718998
|
0.00004
|
NM_001350451.2(RBFOX3):c.360+12C>T
|
rs901701800
|
0.00004
|
NM_001350451.2(RBFOX3):c.361-8C>T
|
rs957289800
|
0.00004
|
NM_001350451.2(RBFOX3):c.423G>A (p.Gly141=)
|
rs775993784
|
0.00004
|
NM_001350451.2(RBFOX3):c.48C>T (p.Asn16=)
|
rs561710608
|
0.00004
|
NM_001350451.2(RBFOX3):c.569-18T>C
|
rs918046686
|
0.00004
|
NM_001350451.2(RBFOX3):c.62A>C (p.Glu21Ala)
|
rs1167103679
|
0.00004
|
NM_001350451.2(RBFOX3):c.89C>T (p.Thr30Met)
|
rs747394355
|
0.00004
|
NM_018100.4(EFHC1):c.1017G>A (p.Gly339=)
|
rs144447906
|
0.00004
|
NM_018100.4(EFHC1):c.1261C>T (p.Arg421Cys)
|
rs144389178
|
0.00004
|
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe)
|
rs750259384
|
0.00004
|
NM_018100.4(EFHC1):c.1333G>A (p.Ala445Thr)
|
rs770847993
|
0.00004
|
NM_018100.4(EFHC1):c.1459C>T (p.Pro487Ser)
|
rs775601315
|
0.00004
|
NM_018100.4(EFHC1):c.151C>T (p.Arg51Trp)
|
rs374661645
|
0.00004
|
NM_018100.4(EFHC1):c.1602T>C (p.His534=)
|
rs570700601
|
0.00004
|
NM_018100.4(EFHC1):c.1815G>A (p.Ser605=)
|
rs1045298708
|
0.00004
|
NM_018100.4(EFHC1):c.263C>T (p.Ala88Val)
|
rs145102896
|
0.00004
|
NM_018100.4(EFHC1):c.451C>T (p.Arg151Cys)
|
rs200375854
|
0.00004
|
NM_018100.4(EFHC1):c.526A>G (p.Ile176Val)
|
rs369777400
|
0.00004
|
NM_018100.4(EFHC1):c.573+5A>G
|
rs560584332
|
0.00004
|
NM_018100.4(EFHC1):c.646C>T (p.Arg216Ter)
|
rs377165334
|
0.00004
|
NM_018100.4(EFHC1):c.647G>A (p.Arg216Gln)
|
rs77682973
|
0.00004
|
NM_018723.4(RBFOX1):c.1004G>A (p.Arg335Gln)
|
rs763620262
|
0.00004
|
NM_018723.4(RBFOX1):c.1018G>A (p.Asp340Asn)
|
rs1403788049
|
0.00004
|
NM_018723.4(RBFOX1):c.130C>T (p.Pro44Ser)
|
rs201490398
|
0.00004
|
NM_018723.4(RBFOX1):c.146C>T (p.Ala49Val)
|
rs767917479
|
0.00004
|
NM_018723.4(RBFOX1):c.151G>A (p.Glu51Lys)
|
rs778034989
|
0.00004
|
NM_018723.4(RBFOX1):c.220G>C (p.Glu74Gln)
|
rs748804086
|
0.00004
|
NM_018723.4(RBFOX1):c.239C>A (p.Thr80Lys)
|
rs371393737
|
0.00004
|
NM_018723.4(RBFOX1):c.293C>T (p.Thr98Met)
|
rs373077021
|
0.00004
|
NM_018723.4(RBFOX1):c.354G>A (p.Arg118=)
|
rs200053144
|
0.00004
|
NM_018723.4(RBFOX1):c.603C>T (p.Thr201=)
|
rs772611871
|
0.00004
|
NM_018723.4(RBFOX1):c.789C>T (p.Ala263=)
|
rs577598050
|
0.00004
|
NM_018723.4(RBFOX1):c.871C>G (p.Pro291Ala)
|
rs768195911
|
0.00004
|
NM_018723.4(RBFOX1):c.873G>A (p.Pro291=)
|
rs761510301
|
0.00004
|
NM_018723.4(RBFOX1):c.886G>A (p.Gly296Ser)
|
rs759654438
|
0.00004
|
NM_018723.4(RBFOX1):c.955G>A (p.Ala319Thr)
|
rs199644500
|
0.00004
|
NM_021098.3(CACNA1H):c.1000C>T (p.Arg334Cys)
|
rs371658961
|
0.00004
|
NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp)
|
rs1459266876
|
0.00004
|
NM_021098.3(CACNA1H):c.1035C>T (p.Asn345=)
|
rs751812661
|
0.00004
|
NM_021098.3(CACNA1H):c.1046C>T (p.Ser349Leu)
|
rs756026742
|
0.00004
|
NM_021098.3(CACNA1H):c.1301G>A (p.Arg434Gln)
|
rs373469167
|
0.00004
|
NM_021098.3(CACNA1H):c.1315C>T (p.Arg439Cys)
|
rs756550215
|
0.00004
|
NM_021098.3(CACNA1H):c.1329C>T (p.Asn443=)
|
rs368405304
|
0.00004
|
NM_021098.3(CACNA1H):c.1430G>A (p.Arg477His)
|
rs1325999341
|
0.00004
|
NM_021098.3(CACNA1H):c.1507C>T (p.Arg503Cys)
|
rs1040565692
|
0.00004
|
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)
|
rs528341556
|
0.00004
|
NM_021098.3(CACNA1H):c.1665G>A (p.Ala555=)
|
rs753841406
|
0.00004
|
NM_021098.3(CACNA1H):c.1671C>G (p.Pro557=)
|
rs747661532
|
0.00004
|
NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys)
|
rs1367396955
|
0.00004
|
NM_021098.3(CACNA1H):c.1812G>A (p.Leu604=)
|
rs751089816
|
0.00004
|
NM_021098.3(CACNA1H):c.1857_1858del (p.Val621fs)
|
rs759709148
|
0.00004
|
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His)
|
rs747807971
|
0.00004
|
NM_021098.3(CACNA1H):c.1920G>A (p.Pro640=)
|
rs370824503
|
0.00004
|
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)
|
rs768565046
|
0.00004
|
NM_021098.3(CACNA1H):c.2026C>A (p.Leu676Met)
|
rs776134781
|
0.00004
|
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)
|
rs371324992
|
0.00004
|
NM_021098.3(CACNA1H):c.2209G>A (p.Gly737Ser)
|
rs367610523
|
0.00004
|
NM_021098.3(CACNA1H):c.2272A>G (p.Ser758Gly)
|
rs559573879
|
0.00004
|
NM_021098.3(CACNA1H):c.230C>T (p.Ala77Val)
|
rs900768678
|
0.00004
|
NM_021098.3(CACNA1H):c.2318G>A (p.Gly773Asp)
|
rs267606697
|
0.00004
|
NM_021098.3(CACNA1H):c.2363G>A (p.Arg788His)
|
rs532296550
|
0.00004
|
NM_021098.3(CACNA1H):c.2421G>A (p.Thr807=)
|
rs761461229
|
0.00004
|
NM_021098.3(CACNA1H):c.2433C>T (p.Gly811=)
|
rs369215879
|
0.00004
|
NM_021098.3(CACNA1H):c.2455G>A (p.Glu819Lys)
|
rs375165169
|
0.00004
|
NM_021098.3(CACNA1H):c.2461C>G (p.Leu821Val)
|
rs777617840
|
0.00004
|
NM_021098.3(CACNA1H):c.2568G>A (p.Pro856=)
|
rs372206587
|
0.00004
|
NM_021098.3(CACNA1H):c.2778T>C (p.Ile926=)
|
rs745368829
|
0.00004
|
NM_021098.3(CACNA1H):c.2789+20C>T
|
rs769544181
|
0.00004
|
NM_021098.3(CACNA1H):c.2826C>T (p.Ser942=)
|
rs759936559
|
0.00004
|
NM_021098.3(CACNA1H):c.2850C>T (p.Thr950=)
|
rs201667568
|
0.00004
|
NM_021098.3(CACNA1H):c.2871C>T (p.Phe957=)
|
rs574604085
|
0.00004
|
NM_021098.3(CACNA1H):c.2892C>T (p.Ile964=)
|
rs769118582
|
0.00004
|
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val)
|
rs375023370
|
0.00004
|
NM_021098.3(CACNA1H):c.300-6C>T
|
rs755354027
|
0.00004
|
NM_021098.3(CACNA1H):c.3082G>A (p.Asp1028Asn)
|
rs745354512
|
0.00004
|
NM_021098.3(CACNA1H):c.3154+3G>A
|
rs374267602
|
0.00004
|
NM_021098.3(CACNA1H):c.3228C>T (p.Leu1076=)
|
rs113925563
|
0.00004
|
NM_021098.3(CACNA1H):c.3313C>T (p.Arg1105Cys)
|
rs370833327
|
0.00004
|
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)
|
rs753159318
|
0.00004
|
NM_021098.3(CACNA1H):c.3401C>G (p.Pro1134Arg)
|
rs759262489
|
0.00004
|
NM_021098.3(CACNA1H):c.3422G>A (p.Arg1141Gln)
|
rs1002596641
|
0.00004
|
NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn)
|
rs61294616
|
0.00004
|
NM_021098.3(CACNA1H):c.3584G>A (p.Arg1195Gln)
|
rs758674093
|
0.00004
|
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)
|
rs372472186
|
0.00004
|
NM_021098.3(CACNA1H):c.3605G>A (p.Arg1202Gln)
|
rs745360721
|
0.00004
|
NM_021098.3(CACNA1H):c.3613C>T (p.Arg1205Trp)
|
rs779622633
|
0.00004
|
NM_021098.3(CACNA1H):c.3621C>T (p.Ala1207=)
|
rs1325273276
|
0.00004
|
NM_021098.3(CACNA1H):c.3636C>A (p.Thr1212=)
|
rs767435491
|
0.00004
|
NM_021098.3(CACNA1H):c.3688C>T (p.Leu1230=)
|
rs372152910
|
0.00004
|
NM_021098.3(CACNA1H):c.3707G>A (p.Arg1236His)
|
rs772473191
|
0.00004
|
NM_021098.3(CACNA1H):c.3709G>A (p.Glu1237Lys)
|
rs973149799
|
0.00004
|
NM_021098.3(CACNA1H):c.3721G>A (p.Glu1241Lys)
|
rs201993286
|
0.00004
|
NM_021098.3(CACNA1H):c.3730G>A (p.Asp1244Asn)
|
rs372126787
|
0.00004
|
NM_021098.3(CACNA1H):c.3744C>T (p.Asp1248=)
|
rs747200195
|
0.00004
|
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)
|
rs749122105
|
0.00004
|
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln)
|
rs764530568
|
0.00004
|
NM_021098.3(CACNA1H):c.3849C>G (p.Phe1283Leu)
|
rs769539864
|
0.00004
|
NM_021098.3(CACNA1H):c.4017C>T (p.Phe1339=)
|
rs766859067
|
0.00004
|
NM_021098.3(CACNA1H):c.412-9C>T
|
rs1596382402
|
0.00004
|
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr)
|
rs931243903
|
0.00004
|
NM_021098.3(CACNA1H):c.4192C>T (p.Leu1398=)
|
rs1391605092
|
0.00004
|
NM_021098.3(CACNA1H):c.4224-7C>T
|
rs768524941
|
0.00004
|
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=)
|
rs771972820
|
0.00004
|
NM_021098.3(CACNA1H):c.4327A>G (p.Ile1443Val)
|
rs777667628
|
0.00004
|
NM_021098.3(CACNA1H):c.4365G>A (p.Lys1455=)
|
rs373587418
|
0.00004
|
NM_021098.3(CACNA1H):c.4387G>A (p.Asp1463Asn)
|
rs542245543
|
0.00004
|
NM_021098.3(CACNA1H):c.4448G>A (p.Arg1483His)
|
rs774455553
|
0.00004
|
NM_021098.3(CACNA1H):c.4557C>T (p.Val1519=)
|
rs761169638
|
0.00004
|
NM_021098.3(CACNA1H):c.4644C>T (p.Asn1548=)
|
rs146103792
|
0.00004
|
NM_021098.3(CACNA1H):c.4651G>A (p.Val1551Met)
|
rs369045626
|
0.00004
|
NM_021098.3(CACNA1H):c.4720G>C (p.Glu1574Gln)
|
rs781126604
|
0.00004
|
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln)
|
rs367947771
|
0.00004
|
NM_021098.3(CACNA1H):c.4759+19C>T
|
rs757614403
|
0.00004
|
NM_021098.3(CACNA1H):c.4778-13G>A
|
rs757429018
|
0.00004
|
NM_021098.3(CACNA1H):c.4787G>A (p.Arg1596His)
|
rs1458781875
|
0.00004
|
NM_021098.3(CACNA1H):c.4853A>C (p.Tyr1618Ser)
|
rs769175169
|
0.00004
|
NM_021098.3(CACNA1H):c.4939G>A (p.Glu1647Lys)
|
rs763211250
|
0.00004
|
NM_021098.3(CACNA1H):c.4963G>A (p.Val1655Ile)
|
rs535413428
|
0.00004
|
NM_021098.3(CACNA1H):c.5064C>T (p.Ile1688=)
|
rs368182320
|
0.00004
|
NM_021098.3(CACNA1H):c.5083G>A (p.Gly1695Ser)
|
rs946594196
|
0.00004
|
NM_021098.3(CACNA1H):c.5117C>T (p.Ala1706Val)
|
rs371121613
|
0.00004
|
NM_021098.3(CACNA1H):c.5162G>A (p.Arg1721His)
|
rs747789914
|
0.00004
|
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr)
|
rs61372944
|
0.00004
|
NM_021098.3(CACNA1H):c.5342C>G (p.Pro1781Arg)
|
rs372601783
|
0.00004
|
NM_021098.3(CACNA1H):c.5378A>G (p.Asn1793Ser)
|
rs72552051
|
0.00004
|
NM_021098.3(CACNA1H):c.5382C>T (p.Phe1794=)
|
rs567978624
|
0.00004
|
NM_021098.3(CACNA1H):c.5445+9C>T
|
rs750165729
|
0.00004
|
NM_021098.3(CACNA1H):c.5611C>T (p.Arg1871Trp)
|
rs866836108
|
0.00004
|
NM_021098.3(CACNA1H):c.5664C>T (p.Pro1888=)
|
rs761380706
|
0.00004
|
NM_021098.3(CACNA1H):c.5742G>C (p.Leu1914=)
|
rs964108081
|
0.00004
|
NM_021098.3(CACNA1H):c.5749C>T (p.Arg1917Cys)
|
rs552691524
|
0.00004
|
NM_021098.3(CACNA1H):c.5950G>A (p.Ala1984Thr)
|
rs761696834
|
0.00004
|
NM_021098.3(CACNA1H):c.5977G>A (p.Glu1993Lys)
|
rs529327549
|
0.00004
|
NM_021098.3(CACNA1H):c.6049-11C>T
|
rs764862065
|
0.00004
|
NM_021098.3(CACNA1H):c.6134C>T (p.Pro2045Leu)
|
rs775090579
|
0.00004
|
NM_021098.3(CACNA1H):c.6219C>T (p.Thr2073=)
|
rs757443856
|
0.00004
|
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)
|
rs772785163
|
0.00004
|
NM_021098.3(CACNA1H):c.6360C>T (p.Pro2120=)
|
rs369048631
|
0.00004
|
NM_021098.3(CACNA1H):c.6379G>A (p.Gly2127Ser)
|
rs745587324
|
0.00004
|
NM_021098.3(CACNA1H):c.637G>A (p.Val213Met)
|
rs772154386
|
0.00004
|
NM_021098.3(CACNA1H):c.6396G>A (p.Leu2132=)
|
rs759614653
|
0.00004
|
NM_021098.3(CACNA1H):c.6468C>T (p.Pro2156=)
|
rs557192491
|
0.00004
|
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys)
|
rs768826048
|
0.00004
|
NM_021098.3(CACNA1H):c.6600C>T (p.Asp2200=)
|
rs769489660
|
0.00004
|
NM_021098.3(CACNA1H):c.6633C>T (p.Gly2211=)
|
rs1362184958
|
0.00004
|
NM_021098.3(CACNA1H):c.6663G>A (p.Pro2221=)
|
rs368014968
|
0.00004
|
NM_021098.3(CACNA1H):c.6678G>A (p.Thr2226=)
|
rs398124369
|
0.00004
|
NM_021098.3(CACNA1H):c.6786C>T (p.Thr2262=)
|
rs568142514
|
0.00004
|
NM_021098.3(CACNA1H):c.6893G>A (p.Gly2298Glu)
|
rs769136587
|
0.00004
|
NM_021098.3(CACNA1H):c.6940G>A (p.Val2314Ile)
|
rs370867825
|
0.00004
|
NM_021098.3(CACNA1H):c.6942C>T (p.Val2314=)
|
rs574397087
|
0.00004
|
NM_021098.3(CACNA1H):c.6955_6957del (p.Glu2319del)
|
rs755117171
|
0.00004
|
NM_021098.3(CACNA1H):c.696C>T (p.Asn232=)
|
rs750648723
|
0.00004
|
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val)
|
rs56900494
|
0.00004
|
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)
|
rs369329819
|
0.00004
|
NM_021098.3(CACNA1H):c.873C>T (p.Cys291=)
|
rs746367219
|
0.00004
|
NM_021098.3(CACNA1H):c.881G>A (p.Arg294His)
|
rs371605781
|
0.00004
|
NM_021098.3(CACNA1H):c.919G>A (p.Gly307Ser)
|
rs766354453
|
0.00004
|
NM_145893.3(RBFOX1):c.36T>C (p.Tyr12=)
|
rs767727470
|
0.00004
|
NM_145893.3(RBFOX1):c.62C>T (p.Ala21Val)
|
rs375723096
|
0.00004
|
NM_198904.4(GABRG2):c.107+11C>A
|
rs376576632
|
0.00004
|
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp)
|
rs374512652
|
0.00004
|
NM_198904.4(GABRG2):c.1153-8C>T
|
rs771660227
|
0.00004
|
NM_198904.4(GABRG2):c.1189A>G (p.Ile397Val)
|
rs375785093
|
0.00004
|
NM_198904.4(GABRG2):c.219G>A (p.Leu73=)
|
rs753076158
|
0.00004
|
NM_198904.4(GABRG2):c.259+19C>T
|
rs758196181
|
0.00004
|
NM_198904.4(GABRG2):c.52G>C (p.Val18Leu)
|
rs141106898
|
0.00004
|
NM_198904.4(GABRG2):c.579A>G (p.Gln193=)
|
rs751723547
|
0.00004
|
NM_198904.4(GABRG2):c.770-18A>C
|
rs765653579
|
0.00004
|
NM_198904.4(GABRG2):c.942A>G (p.Thr314=)
|
rs377502016
|
0.00004
|
NM_198904.4(GABRG2):c.972A>G (p.Lys324=)
|
rs369614121
|
0.00004
|
NM_000726.5(CACNB4):c.1027C>G (p.Gln343Glu)
|
rs1328517680
|
0.00003
|
NM_000726.5(CACNB4):c.1403G>A (p.Arg468Gln)
|
rs1169898698
|
0.00003
|
NM_000726.5(CACNB4):c.1549C>T (p.Arg517Ter)
|
rs370263335
|
0.00003
|
NM_000726.5(CACNB4):c.48C>T (p.His16=)
|
rs766238244
|
0.00003
|
NM_000814.6(GABRB3):c.1068C>T (p.Ser356=)
|
rs369761963
|
0.00003
|
NM_000814.6(GABRB3):c.1081-17A>G
|
rs963453392
|
0.00003
|
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu)
|
rs369631109
|
0.00003
|
NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val)
|
rs377215030
|
0.00003
|
NM_000814.6(GABRB3):c.156A>T (p.Leu52=)
|
rs368193507
|
0.00003
|
NM_000814.6(GABRB3):c.174T>G (p.Gly58=)
|
rs749519657
|
0.00003
|
NM_000814.6(GABRB3):c.180G>A (p.Pro60=)
|
rs775865564
|
0.00003
|
NM_000814.6(GABRB3):c.292G>A (p.Ala98Thr)
|
rs756369937
|
0.00003
|
NM_000814.6(GABRB3):c.321G>A (p.Thr107=)
|
rs367761610
|
0.00003
|
NM_000814.6(GABRB3):c.321G>T (p.Thr107=)
|
rs367761610
|
0.00003
|
NM_000814.6(GABRB3):c.417C>T (p.Arg139=)
|
rs933729675
|
0.00003
|
NM_000814.6(GABRB3):c.544+3G>T
|
rs377463653
|
0.00003
|
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met)
|
rs769801846
|
0.00003
|
NM_000814.6(GABRB3):c.80+12G>A
|
rs926231041
|
0.00003
|
NM_000814.6(GABRB3):c.836-20C>T
|
rs369364757
|
0.00003
|
NM_000814.6(GABRB3):c.936C>T (p.Gly312=)
|
rs147532209
|
0.00003
|
NM_000814.6(GABRB3):c.969G>A (p.Glu323=)
|
rs77608123
|
0.00003
|
NM_000815.5(GABRD):c.1154G>A (p.Gly385Glu)
|
rs753657631
|
0.00003
|
NM_000815.5(GABRD):c.1343C>T (p.Ala448Val)
|
rs756592609
|
0.00003
|
NM_000815.5(GABRD):c.135C>T (p.Asp45=)
|
rs754323369
|
0.00003
|
NM_000815.5(GABRD):c.554-5T>A
|
rs766985428
|
0.00003
|
NM_000815.5(GABRD):c.692-18C>T
|
rs554815044
|
0.00003
|
NM_000815.5(GABRD):c.780G>C (p.Leu260=)
|
rs369231950
|
0.00003
|
NM_000815.5(GABRD):c.847+12C>T
|
rs770968835
|
0.00003
|
NM_000815.5(GABRD):c.847+5G>A
|
rs1231232821
|
0.00003
|
NM_000815.5(GABRD):c.848-6C>T
|
rs368572778
|
0.00003
|
NM_001127644.2(GABRA1):c.384C>T (p.Phe128=)
|
rs1219475284
|
0.00003
|
NM_001127644.2(GABRA1):c.390T>C (p.Asn130=)
|
rs778019249
|
0.00003
|
NM_001127644.2(GABRA1):c.756C>T (p.Tyr252=)
|
rs775895535
|
0.00003
|
NM_001127644.2(GABRA1):c.834T>C (p.Ser278=)
|
rs749956729
|
0.00003
|
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu)
|
rs200218956
|
0.00003
|
NM_001127644.2(GABRA1):c.93A>C (p.Leu31Phe)
|
rs747927213
|
0.00003
|
NM_001350451.2(RBFOX3):c.1002C>T (p.Tyr334=)
|
rs972548690
|
0.00003
|
NM_001350451.2(RBFOX3):c.1005C>T (p.Gly335=)
|
rs1197865456
|
0.00003
|
NM_001350451.2(RBFOX3):c.1056G>A (p.Ala352=)
|
rs1228682560
|
0.00003
|
NM_001350451.2(RBFOX3):c.165C>T (p.Pro55=)
|
rs1019002644
|
0.00003
|
NM_001350451.2(RBFOX3):c.166G>A (p.Glu56Lys)
|
rs748110754
|
0.00003
|
NM_001350451.2(RBFOX3):c.360+10C>T
|
rs1233398072
|
0.00003
|
NM_001350451.2(RBFOX3):c.414+13C>T
|
rs780036724
|
0.00003
|
NM_001350451.2(RBFOX3):c.549G>A (p.Thr183=)
|
rs369398194
|
0.00003
|
NM_001350451.2(RBFOX3):c.699C>T (p.Ala233=)
|
rs758656116
|
0.00003
|
NM_001350451.2(RBFOX3):c.903G>A (p.Val301=)
|
rs886670631
|
0.00003
|
NM_001350451.2(RBFOX3):c.92A>G (p.Gln31Arg)
|
rs1332700365
|
0.00003
|
NM_018100.4(EFHC1):c.1016G>A (p.Gly339Glu)
|
rs779882152
|
0.00003
|
NM_018100.4(EFHC1):c.105C>T (p.Asn35=)
|
rs534406651
|
0.00003
|
NM_018100.4(EFHC1):c.1114C>T (p.Arg372Trp)
|
rs371151471
|
0.00003
|
NM_018100.4(EFHC1):c.1225G>A (p.Val409Ile)
|
rs766874585
|
0.00003
|
NM_018100.4(EFHC1):c.125G>C (p.Arg42Pro)
|
rs773598517
|
0.00003
|
NM_018100.4(EFHC1):c.1279-9C>T
|
rs143254681
|
0.00003
|
NM_018100.4(EFHC1):c.1536T>G (p.Val512=)
|
rs775581363
|
0.00003
|
NM_018100.4(EFHC1):c.1606C>G (p.Arg536Gly)
|
rs779990464
|
0.00003
|
NM_018100.4(EFHC1):c.1639A>G (p.Ser547Gly)
|
rs759767484
|
0.00003
|
NM_018100.4(EFHC1):c.286-1G>A
|
rs1351442830
|
0.00003
|
NM_018100.4(EFHC1):c.352C>T (p.Arg118Cys)
|
rs764096785
|
0.00003
|
NM_018100.4(EFHC1):c.544C>T (p.Arg182Cys)
|
rs200191497
|
0.00003
|
NM_018100.4(EFHC1):c.778C>T (p.Arg260Trp)
|
rs1164027334
|
0.00003
|
NM_018100.4(EFHC1):c.880C>T (p.Arg294Cys)
|
rs201543041
|
0.00003
|
NM_018100.4(EFHC1):c.896A>G (p.Lys299Arg)
|
rs138973203
|
0.00003
|
NM_018723.4(RBFOX1):c.1059C>T (p.Gly353=)
|
rs749751319
|
0.00003
|
NM_018723.4(RBFOX1):c.562-12C>T
|
rs771443037
|
0.00003
|
NM_018723.4(RBFOX1):c.677-4G>A
|
rs759738790
|
0.00003
|
NM_018723.4(RBFOX1):c.831C>T (p.Arg277=)
|
rs765683149
|
0.00003
|
NM_018723.4(RBFOX1):c.954C>T (p.Tyr318=)
|
rs182244522
|
0.00003
|
NM_021098.3(CACNA1H):c.1094G>T (p.Gly365Val)
|
rs772246879
|
0.00003
|
NM_021098.3(CACNA1H):c.1129C>T (p.Leu377=)
|
rs529122240
|
0.00003
|
NM_021098.3(CACNA1H):c.1206C>G (p.Leu402=)
|
rs764371721
|
0.00003
|
NM_021098.3(CACNA1H):c.1213-20C>A
|
rs543889283
|
0.00003
|
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser)
|
rs760258010
|
0.00003
|
NM_021098.3(CACNA1H):c.1284G>T (p.Arg428=)
|
rs771004922
|
0.00003
|
NM_021098.3(CACNA1H):c.1413C>G (p.Val471=)
|
rs781240456
|
0.00003
|
NM_021098.3(CACNA1H):c.1437C>T (p.Tyr479=)
|
rs144326377
|
0.00003
|
NM_021098.3(CACNA1H):c.1539G>A (p.Ser513=)
|
rs770284927
|
0.00003
|
NM_021098.3(CACNA1H):c.1799C>T (p.Ala600Val)
|
rs759349379
|
0.00003
|
NM_021098.3(CACNA1H):c.1912G>A (p.Gly638Ser)
|
rs747036748
|
0.00003
|
NM_021098.3(CACNA1H):c.1938C>T (p.His646=)
|
rs771171443
|
0.00003
|
NM_021098.3(CACNA1H):c.1983G>A (p.Pro661=)
|
rs56875953
|
0.00003
|
NM_021098.3(CACNA1H):c.1992C>T (p.Val664=)
|
rs764559629
|
0.00003
|
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg)
|
rs761785619
|
0.00003
|
NM_021098.3(CACNA1H):c.2003-6C>T
|
rs1435574238
|
0.00003
|
NM_021098.3(CACNA1H):c.2102C>T (p.Pro701Leu)
|
rs772486214
|
0.00003
|
NM_021098.3(CACNA1H):c.2208C>T (p.His736=)
|
rs376616017
|
0.00003
|
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)
|
rs574809183
|
0.00003
|
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr)
|
rs747121461
|
0.00003
|
NM_021098.3(CACNA1H):c.2420C>T (p.Thr807Met)
|
rs773952204
|
0.00003
|
NM_021098.3(CACNA1H):c.2451+4C>T
|
rs764605459
|
0.00003
|
NM_021098.3(CACNA1H):c.2452-6C>T
|
rs766620515
|
0.00003
|
NM_021098.3(CACNA1H):c.2452-8G>T
|
rs372868138
|
0.00003
|
NM_021098.3(CACNA1H):c.2490C>T (p.Ile830=)
|
rs766316929
|
0.00003
|
NM_021098.3(CACNA1H):c.2604-4G>A
|
rs543668710
|
0.00003
|
NM_021098.3(CACNA1H):c.2632G>A (p.Gly878Ser)
|
rs547294711
|
0.00003
|
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys)
|
rs762653776
|
0.00003
|
NM_021098.3(CACNA1H):c.2705G>A (p.Arg902Gln)
|
rs748252386
|
0.00003
|
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met)
|
rs536557648
|
0.00003
|
NM_021098.3(CACNA1H):c.2757C>T (p.Cys919=)
|
rs761572907
|
0.00003
|
NM_021098.3(CACNA1H):c.2789+10A>G
|
rs535085854
|
0.00003
|
NM_021098.3(CACNA1H):c.2790-6C>T
|
rs768747822
|
0.00003
|
NM_021098.3(CACNA1H):c.2841C>T (p.Thr947=)
|
rs775833368
|
0.00003
|
NM_021098.3(CACNA1H):c.2851G>A (p.Val951Met)
|
rs372479526
|
0.00003
|
NM_021098.3(CACNA1H):c.2898C>T (p.Thr966=)
|
rs767436883
|
0.00003
|
NM_021098.3(CACNA1H):c.2931C>T (p.Asn977=)
|
rs376470846
|
0.00003
|
NM_021098.3(CACNA1H):c.2940G>A (p.Leu980=)
|
rs775122425
|
0.00003
|
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val)
|
rs774136809
|
0.00003
|
NM_021098.3(CACNA1H):c.3087G>A (p.Thr1029=)
|
rs544225254
|
0.00003
|
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met)
|
rs371500703
|
0.00003
|
NM_021098.3(CACNA1H):c.3173T>C (p.Leu1058Pro)
|
rs1369723667
|
0.00003
|
NM_021098.3(CACNA1H):c.3190G>A (p.Gly1064Arg)
|
rs748550409
|
0.00003
|
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln)
|
rs751148760
|
0.00003
|
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu)
|
rs373190026
|
0.00003
|
NM_021098.3(CACNA1H):c.3311G>A (p.Arg1104Gln)
|
rs775183925
|
0.00003
|
NM_021098.3(CACNA1H):c.3339G>A (p.Pro1113=)
|
rs368155283
|
0.00003
|
NM_021098.3(CACNA1H):c.3364-13C>T
|
rs780323364
|
0.00003
|
NM_021098.3(CACNA1H):c.3388G>A (p.Ala1130Thr)
|
rs772745734
|
0.00003
|
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys)
|
rs1057523326
|
0.00003
|
NM_021098.3(CACNA1H):c.3496C>T (p.Leu1166=)
|
rs566028361
|
0.00003
|
NM_021098.3(CACNA1H):c.3649C>T (p.Arg1217Cys)
|
rs778684497
|
0.00003
|
NM_021098.3(CACNA1H):c.3662T>C (p.Val1221Ala)
|
rs774661170
|
0.00003
|
NM_021098.3(CACNA1H):c.366C>G (p.Pro122=)
|
rs372041705
|
0.00003
|
NM_021098.3(CACNA1H):c.3696C>T (p.Ile1232=)
|
rs749776546
|
0.00003
|
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu)
|
rs571145188
|
0.00003
|
NM_021098.3(CACNA1H):c.3744+11G>A
|
rs765196762
|
0.00003
|
NM_021098.3(CACNA1H):c.376G>A (p.Val126Ile)
|
rs150821225
|
0.00003
|
NM_021098.3(CACNA1H):c.3845+14G>C
|
rs995847684
|
0.00003
|
NM_021098.3(CACNA1H):c.391G>A (p.Glu131Lys)
|
rs753494538
|
0.00003
|
NM_021098.3(CACNA1H):c.4033G>C (p.Val1345Leu)
|
rs777795718
|
0.00003
|
NM_021098.3(CACNA1H):c.4038+5C>T
|
rs368592629
|
0.00003
|
NM_021098.3(CACNA1H):c.4059G>C (p.Leu1353=)
|
rs749134982
|
0.00003
|
NM_021098.3(CACNA1H):c.4065C>T (p.Gly1355=)
|
rs771718484
|
0.00003
|
NM_021098.3(CACNA1H):c.4070A>T (p.His1357Leu)
|
rs775971172
|
0.00003
|
NM_021098.3(CACNA1H):c.4140C>T (p.Val1380=)
|
rs746638320
|
0.00003
|
NM_021098.3(CACNA1H):c.4147A>G (p.Met1383Val)
|
rs774773999
|
0.00003
|
NM_021098.3(CACNA1H):c.4151C>T (p.Ala1384Val)
|
rs772094785
|
0.00003
|
NM_021098.3(CACNA1H):c.4201C>T (p.Leu1401=)
|
rs1357359996
|
0.00003
|
NM_021098.3(CACNA1H):c.4234C>T (p.Arg1412Trp)
|
rs772769994
|
0.00003
|
NM_021098.3(CACNA1H):c.4266G>A (p.Thr1422=)
|
rs369851210
|
0.00003
|
NM_021098.3(CACNA1H):c.4320C>T (p.Phe1440=)
|
rs748410941
|
0.00003
|
NM_021098.3(CACNA1H):c.4351-6C>T
|
rs377612703
|
0.00003
|
NM_021098.3(CACNA1H):c.4377C>T (p.Cys1459=)
|
rs777171317
|
0.00003
|
NM_021098.3(CACNA1H):c.4476+19C>T
|
rs780330955
|
0.00003
|
NM_021098.3(CACNA1H):c.4480C>T (p.Leu1494=)
|
rs575012566
|
0.00003
|
NM_021098.3(CACNA1H):c.4678A>G (p.Lys1560Glu)
|
rs1371741882
|
0.00003
|
NM_021098.3(CACNA1H):c.4718G>A (p.Arg1573Gln)
|
rs560884609
|
0.00003
|
NM_021098.3(CACNA1H):c.4729C>T (p.Arg1577Trp)
|
rs748925694
|
0.00003
|
NM_021098.3(CACNA1H):c.4823G>A (p.Arg1608His)
|
rs199669141
|
0.00003
|
NM_021098.3(CACNA1H):c.4835C>T (p.Ser1612Leu)
|
rs370292995
|
0.00003
|
NM_021098.3(CACNA1H):c.4857C>T (p.Leu1619=)
|
rs774967938
|
0.00003
|
NM_021098.3(CACNA1H):c.4863C>T (p.Leu1621=)
|
rs951676471
|
0.00003
|
NM_021098.3(CACNA1H):c.4929+20G>A
|
rs183848017
|
0.00003
|
NM_021098.3(CACNA1H):c.5020C>T (p.Arg1674Cys)
|
rs771932368
|
0.00003
|
NM_021098.3(CACNA1H):c.5039+18G>A
|
rs531198181
|
0.00003
|
NM_021098.3(CACNA1H):c.5116G>A (p.Ala1706Thr)
|
rs761499667
|
0.00003
|
NM_021098.3(CACNA1H):c.5144G>A (p.Arg1715His)
|
rs371577290
|
0.00003
|
NM_021098.3(CACNA1H):c.5175G>A (p.Val1725=)
|
rs1313601373
|
0.00003
|
NM_021098.3(CACNA1H):c.5245-7T>C
|
rs747958965
|
0.00003
|
NM_021098.3(CACNA1H):c.5254C>T (p.Leu1752=)
|
rs759289408
|
0.00003
|
NM_021098.3(CACNA1H):c.5294C>T (p.Ala1765Val)
|
rs781759793
|
0.00003
|
NM_021098.3(CACNA1H):c.5364C>T (p.His1788=)
|
rs769283823
|
0.00003
|
NM_021098.3(CACNA1H):c.5394C>T (p.Phe1798=)
|
rs368056421
|
0.00003
|
NM_021098.3(CACNA1H):c.5446-5C>T
|
rs780634581
|
0.00003
|
NM_021098.3(CACNA1H):c.546-8G>A
|
rs530140454
|
0.00003
|
NM_021098.3(CACNA1H):c.560C>T (p.Ser187Leu)
|
rs774551478
|
0.00003
|
NM_021098.3(CACNA1H):c.5634C>T (p.Ala1878=)
|
rs373353512
|
0.00003
|
NM_021098.3(CACNA1H):c.5688G>A (p.Ala1896=)
|
rs58835716
|
0.00003
|
NM_021098.3(CACNA1H):c.5718G>A (p.Pro1906=)
|
rs768615232
|
0.00003
|
NM_021098.3(CACNA1H):c.5776T>C (p.Ser1926Pro)
|
rs750470269
|
0.00003
|
NM_021098.3(CACNA1H):c.5841G>A (p.Pro1947=)
|
rs561421034
|
0.00003
|
NM_021098.3(CACNA1H):c.5893G>A (p.Val1965Ile)
|
rs748947682
|
0.00003
|
NM_021098.3(CACNA1H):c.5913G>A (p.Pro1971=)
|
rs544401405
|
0.00003
|
NM_021098.3(CACNA1H):c.5944C>A (p.Pro1982Thr)
|
rs763018232
|
0.00003
|
NM_021098.3(CACNA1H):c.5961C>T (p.Ser1987=)
|
rs1001625167
|
0.00003
|
NM_021098.3(CACNA1H):c.6034C>T (p.Leu2012=)
|
rs4609848
|
0.00003
|
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro)
|
rs905456471
|
0.00003
|
NM_021098.3(CACNA1H):c.6049-4A>T
|
rs750777344
|
0.00003
|
NM_021098.3(CACNA1H):c.6149C>A (p.Thr2050Asn)
|
rs949519905
|
0.00003
|
NM_021098.3(CACNA1H):c.6178C>T (p.Arg2060Cys)
|
rs777952986
|
0.00003
|
NM_021098.3(CACNA1H):c.6193G>A (p.Ala2065Thr)
|
rs372558359
|
0.00003
|
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr)
|
rs369917102
|
0.00003
|
NM_021098.3(CACNA1H):c.6201C>A (p.Val2067=)
|
rs754178400
|
0.00003
|
NM_021098.3(CACNA1H):c.6260G>T (p.Gly2087Val)
|
rs750666820
|
0.00003
|
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg)
|
rs779925007
|
0.00003
|
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys)
|
rs774769004
|
0.00003
|
NM_021098.3(CACNA1H):c.6318C>T (p.Ser2106=)
|
rs766725637
|
0.00003
|
NM_021098.3(CACNA1H):c.6321C>T (p.Ser2107=)
|
rs753643337
|
0.00003
|
NM_021098.3(CACNA1H):c.643+13C>A
|
rs372696554
|
0.00003
|
NM_021098.3(CACNA1H):c.6492G>T (p.Glu2164Asp)
|
rs768879342
|
0.00003
|
NM_021098.3(CACNA1H):c.6593C>T (p.Ala2198Val)
|
rs776473889
|
0.00003
|
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)
|
rs765757800
|
0.00003
|
NM_021098.3(CACNA1H):c.6680C>T (p.Pro2227Leu)
|
rs780870706
|
0.00003
|
NM_021098.3(CACNA1H):c.6718G>A (p.Ala2240Thr)
|
rs774116060
|
0.00003
|
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)
|
rs375586314
|
0.00003
|
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)
|
rs775972605
|
0.00003
|
NM_021098.3(CACNA1H):c.6799G>A (p.Ala2267Thr)
|
rs1231529131
|
0.00003
|
NM_021098.3(CACNA1H):c.6905C>T (p.Pro2302Leu)
|
rs756807176
|
0.00003
|
NM_021098.3(CACNA1H):c.6909G>A (p.Leu2303=)
|
rs767060522
|
0.00003
|
NM_021098.3(CACNA1H):c.732C>T (p.Phe244=)
|
rs373750945
|
0.00003
|
NM_021098.3(CACNA1H):c.822C>T (p.Phe274=)
|
rs535504262
|
0.00003
|
NM_021098.3(CACNA1H):c.851G>A (p.Gly284Asp)
|
rs767281564
|
0.00003
|
NM_021098.3(CACNA1H):c.960G>A (p.Glu320=)
|
rs779012601
|
0.00003
|
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)
|
rs770821118
|
0.00003
|
NM_145893.3(RBFOX1):c.59C>T (p.Ala20Val)
|
rs201242998
|
0.00003
|
NM_145893.3(RBFOX1):c.63T>G (p.Ala21=)
|
rs775667685
|
0.00003
|
NM_145893.3(RBFOX1):c.64C>G (p.Pro22Ala)
|
rs760925781
|
0.00003
|
NM_145893.3(RBFOX1):c.987G>A (p.Leu329=)
|
rs1217033932
|
0.00003
|
NM_198904.4(GABRG2):c.394A>T (p.Ile132Phe)
|
rs752621588
|
0.00003
|
NM_198904.4(GABRG2):c.406C>T (p.Arg136Ter)
|
rs796052504
|
0.00003
|
NM_198904.4(GABRG2):c.975G>A (p.Ser325=)
|
rs774809218
|
0.00003
|
NM_198904.4(GABRG2):c.981C>G (p.Pro327=)
|
rs1359283950
|
0.00003
|
NM_000726.5(CACNB4):c.1213A>C (p.Thr405Pro)
|
rs536470851
|
0.00002
|
NM_000726.5(CACNB4):c.1373C>A (p.Ser458Tyr)
|
rs761712022
|
0.00002
|
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=)
|
rs794727118
|
0.00002
|
NM_000726.5(CACNB4):c.1496C>G (p.Thr499Ser)
|
rs770682557
|
0.00002
|
NM_000726.5(CACNB4):c.571A>T (p.Thr191Ser)
|
rs746415223
|
0.00002
|
NM_000814.6(GABRB3):c.1033A>G (p.Lys345Glu)
|
rs1224993536
|
0.00002
|
NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser)
|
rs757233280
|
0.00002
|
NM_000814.6(GABRB3):c.1159G>A (p.Asp387Asn)
|
rs373823173
|
0.00002
|
NM_000814.6(GABRB3):c.1266G>A (p.Pro422=)
|
rs377621777
|
0.00002
|
NM_000814.6(GABRB3):c.172+10C>T
|
rs764970437
|
0.00002
|
NM_000814.6(GABRB3):c.172+4A>G
|
rs752221563
|
0.00002
|
NM_000814.6(GABRB3):c.173-13G>C
|
rs371144939
|
0.00002
|
NM_000814.6(GABRB3):c.240+12C>T
|
rs25408
|
0.00002
|
NM_000814.6(GABRB3):c.241-9T>C
|
rs771268184
|
0.00002
|
NM_000814.6(GABRB3):c.513C>T (p.Asp171=)
|
rs200507900
|
0.00002
|
NM_000814.6(GABRB3):c.648C>T (p.His216=)
|
rs144001770
|
0.00002
|
NM_000814.6(GABRB3):c.753T>C (p.Tyr251=)
|
rs150534186
|
0.00002
|
NM_000814.6(GABRB3):c.80+4G>C
|
rs542737772
|
0.00002
|
NM_000814.6(GABRB3):c.81-3C>T
|
rs746996582
|
0.00002
|
NM_000814.6(GABRB3):c.840C>T (p.Ile280=)
|
rs1053195381
|
0.00002
|
NM_000814.6(GABRB3):c.918T>A (p.Ile306=)
|
rs756626803
|
0.00002
|
NM_000814.6(GABRB3):c.942C>T (p.Phe314=)
|
rs757856929
|
0.00002
|
NM_000815.5(GABRD):c.1059+9C>G
|
rs757611508
|
0.00002
|
NM_000815.5(GABRD):c.1105G>A (p.Gly369Ser)
|
rs759836961
|
0.00002
|
NM_000815.5(GABRD):c.181+9C>T
|
rs768389556
|
0.00002
|
NM_000815.5(GABRD):c.448G>A (p.Gly150Ser)
|
rs781431062
|
0.00002
|
NM_000815.5(GABRD):c.470+15C>A
|
rs766248295
|
0.00002
|
NM_000815.5(GABRD):c.93C>T (p.Tyr31=)
|
rs768454474
|
0.00002
|
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu)
|
rs751571034
|
0.00002
|
NM_001127644.2(GABRA1):c.1146C>T (p.Gly382=)
|
rs79593368
|
0.00002
|
NM_001127644.2(GABRA1):c.1151C>T (p.Pro384Leu)
|
rs755336024
|
0.00002
|
NM_001127644.2(GABRA1):c.1234A>T (p.Thr412Ser)
|
rs1229633395
|
0.00002
|
NM_001127644.2(GABRA1):c.1261C>A (p.Arg421=)
|
rs756295089
|
0.00002
|
NM_001127644.2(GABRA1):c.198C>T (p.Thr66=)
|
rs770208588
|
0.00002
|
NM_001127644.2(GABRA1):c.237C>T (p.Pro79=)
|
rs536603724
|
0.00002
|
NM_001127644.2(GABRA1):c.297T>C (p.Asp99=)
|
rs750394365
|
0.00002
|
NM_001127644.2(GABRA1):c.33T>C (p.Leu11=)
|
rs766418049
|
0.00002
|
NM_001127644.2(GABRA1):c.477-14A>G
|
rs757378039
|
0.00002
|
NM_001127644.2(GABRA1):c.633T>C (p.Asp211=)
|
rs587780947
|
0.00002
|
NM_001127644.2(GABRA1):c.699T>C (p.Ser233=)
|
rs756876744
|
0.00002
|
NM_001127644.2(GABRA1):c.75C>T (p.Ser25=)
|
rs75423500
|
0.00002
|
NM_001350451.2(RBFOX3):c.1077+18G>A
|
rs1010660520
|
0.00002
|
NM_001350451.2(RBFOX3):c.10C>A (p.Pro4Thr)
|
rs368372440
|
0.00002
|
NM_001350451.2(RBFOX3):c.162C>T (p.His54=)
|
rs966632113
|
0.00002
|
NM_001350451.2(RBFOX3):c.204C>T (p.Ala68=)
|
rs998084414
|
0.00002
|
NM_001350451.2(RBFOX3):c.240A>G (p.Ala80=)
|
rs1272481386
|
0.00002
|
NM_001350451.2(RBFOX3):c.306C>T (p.His102=)
|
rs575797622
|
0.00002
|
NM_001350451.2(RBFOX3):c.414+9C>T
|
rs911641608
|
0.00002
|
NM_001350451.2(RBFOX3):c.556C>T (p.Pro186Ser)
|
rs372072435
|
0.00002
|
NM_001350451.2(RBFOX3):c.568+15C>G
|
rs749459956
|
0.00002
|
NM_001350451.2(RBFOX3):c.569-14T>G
|
rs769052612
|
0.00002
|
NM_001350451.2(RBFOX3):c.60C>T (p.Ala20=)
|
rs1048996078
|
0.00002
|
NM_001350451.2(RBFOX3):c.657C>T (p.Ala219=)
|
rs925521413
|
0.00002
|
NM_001350451.2(RBFOX3):c.71C>T (p.Pro24Leu)
|
rs1189505871
|
0.00002
|
NM_001350451.2(RBFOX3):c.937-8C>T
|
rs887758601
|
0.00002
|
NM_001350451.2(RBFOX3):c.998+13G>A
|
rs765108817
|
0.00002
|
NM_018100.4(EFHC1):c.1096C>T (p.Arg366Cys)
|
rs573582894
|
0.00002
|
NM_018100.4(EFHC1):c.1147C>T (p.Pro383Ser)
|
rs546262142
|
0.00002
|
NM_018100.4(EFHC1):c.1151A>G (p.Tyr384Cys)
|
rs777659552
|
0.00002
|
NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly)
|
rs756563341
|
0.00002
|
NM_018100.4(EFHC1):c.1309A>T (p.Arg437Ter)
|
rs776277918
|
0.00002
|
NM_018100.4(EFHC1):c.1310G>A (p.Arg437Lys)
|
rs761440315
|
0.00002
|
NM_018100.4(EFHC1):c.1389G>A (p.Gly463=)
|
rs772874099
|
0.00002
|
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys)
|
rs201261630
|
0.00002
|
NM_018100.4(EFHC1):c.1494G>A (p.Val498=)
|
rs1252426853
|
0.00002
|
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=)
|
rs773385237
|
0.00002
|
NM_018100.4(EFHC1):c.1629A>G (p.Pro543=)
|
rs1422352360
|
0.00002
|
NM_018100.4(EFHC1):c.16G>A (p.Val6Met)
|
rs772150303
|
0.00002
|
NM_018100.4(EFHC1):c.1814C>T (p.Ser605Leu)
|
rs373267174
|
0.00002
|
NM_018100.4(EFHC1):c.1888A>G (p.Asn630Asp)
|
rs747171841
|
0.00002
|
NM_018100.4(EFHC1):c.305A>G (p.Tyr102Cys)
|
rs368992606
|
0.00002
|
NM_018100.4(EFHC1):c.458G>A (p.Arg153Gln)
|
rs745600475
|
0.00002
|
NM_018100.4(EFHC1):c.546C>T (p.Arg182=)
|
rs377349630
|
0.00002
|
NM_018100.4(EFHC1):c.569C>T (p.Thr190Ile)
|
rs1430629936
|
0.00002
|
NM_018100.4(EFHC1):c.618G>A (p.Lys206=)
|
rs1374718335
|
0.00002
|
NM_018100.4(EFHC1):c.674C>G (p.Thr225Ser)
|
rs267601073
|
0.00002
|
NM_018100.4(EFHC1):c.730C>T (p.Arg244Ter)
|
rs571448222
|
0.00002
|
NM_018100.4(EFHC1):c.76C>T (p.His26Tyr)
|
rs375322518
|
0.00002
|
NM_018723.4(RBFOX1):c.1000G>A (p.Gly334Arg)
|
rs535313416
|
0.00002
|
NM_018723.4(RBFOX1):c.1056C>T (p.Tyr352=)
|
rs372365163
|
0.00002
|
NM_018723.4(RBFOX1):c.189A>G (p.Leu63=)
|
rs767972090
|
0.00002
|
NM_018723.4(RBFOX1):c.231G>A (p.Pro77=)
|
rs775977215
|
0.00002
|
NM_018723.4(RBFOX1):c.270+7G>T
|
rs778547505
|
0.00002
|
NM_018723.4(RBFOX1):c.28-13T>C
|
rs200813556
|
0.00002
|
NM_018723.4(RBFOX1):c.291G>A (p.Pro97=)
|
rs770163669
|
0.00002
|
NM_018723.4(RBFOX1):c.292A>G (p.Thr98Ala)
|
rs769491451
|
0.00002
|
NM_018723.4(RBFOX1):c.322G>C (p.Glu108Gln)
|
rs771438834
|
0.00002
|
NM_018723.4(RBFOX1):c.387G>C (p.Arg129=)
|
rs148594771
|
0.00002
|
NM_018723.4(RBFOX1):c.393G>A (p.Pro131=)
|
rs772109063
|
0.00002
|
NM_018723.4(RBFOX1):c.414+20C>A
|
rs762873223
|
0.00002
|
NM_018723.4(RBFOX1):c.676+12C>G
|
rs748651106
|
0.00002
|
NM_018723.4(RBFOX1):c.792G>A (p.Ala264=)
|
rs745880431
|
0.00002
|
NM_018723.4(RBFOX1):c.888C>T (p.Gly296=)
|
rs921443679
|
0.00002
|
NM_018723.4(RBFOX1):c.931-9G>C
|
rs200198767
|
0.00002
|
NM_018723.4(RBFOX1):c.995+9C>T
|
rs749403774
|
0.00002
|
NM_021098.3(CACNA1H):c.1001G>A (p.Arg334His)
|
rs964941206
|
0.00002
|
NM_021098.3(CACNA1H):c.1006G>A (p.Ala336Thr)
|
rs754161411
|
0.00002
|
NM_021098.3(CACNA1H):c.1120-3C>T
|
rs559931034
|
0.00002
|
NM_021098.3(CACNA1H):c.1128G>A (p.Thr376=)
|
rs1338263000
|
0.00002
|
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn)
|
rs375121203
|
0.00002
|
NM_021098.3(CACNA1H):c.1158C>T (p.Tyr386=)
|
rs369185990
|
0.00002
|
NM_021098.3(CACNA1H):c.1159G>A (p.Val387Ile)
|
rs748551891
|
0.00002
|
NM_021098.3(CACNA1H):c.1179C>T (p.Phe393=)
|
rs939109422
|
0.00002
|
NM_021098.3(CACNA1H):c.1323G>A (p.Leu441=)
|
rs778972217
|
0.00002
|
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met)
|
rs61910721
|
0.00002
|
NM_021098.3(CACNA1H):c.1395C>G (p.Gly465=)
|
rs758578051
|
0.00002
|
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His)
|
rs769636919
|
0.00002
|
NM_021098.3(CACNA1H):c.1501G>A (p.Gly501Arg)
|
rs748811873
|
0.00002
|
NM_021098.3(CACNA1H):c.1515C>T (p.Arg505=)
|
rs1421031870
|
0.00002
|
NM_021098.3(CACNA1H):c.1566T>C (p.His522=)
|
rs1396490901
|
0.00002
|
NM_021098.3(CACNA1H):c.1582C>T (p.His528Tyr)
|
rs990227397
|
0.00002
|
NM_021098.3(CACNA1H):c.1632C>T (p.Gly544=)
|
rs1040617300
|
0.00002
|
NM_021098.3(CACNA1H):c.1667C>T (p.Pro556Leu)
|
rs1430474816
|
0.00002
|
NM_021098.3(CACNA1H):c.1719C>T (p.His573=)
|
rs964041008
|
0.00002
|
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)
|
rs757893642
|
0.00002
|
NM_021098.3(CACNA1H):c.1821G>T (p.Gly607=)
|
rs187675719
|
0.00002
|
NM_021098.3(CACNA1H):c.1863G>T (p.Val621=)
|
rs942222931
|
0.00002
|
NM_021098.3(CACNA1H):c.1929C>T (p.Thr643=)
|
rs370266192
|
0.00002
|
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser)
|
rs377664706
|
0.00002
|
NM_021098.3(CACNA1H):c.2129C>T (p.Pro710Leu)
|
rs547373648
|
0.00002
|
NM_021098.3(CACNA1H):c.2136T>C (p.Gly712=)
|
rs996560193
|
0.00002
|
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu)
|
rs768306211
|
0.00002
|
NM_021098.3(CACNA1H):c.2152G>C (p.Glu718Gln)
|
rs774313309
|
0.00002
|
NM_021098.3(CACNA1H):c.2169T>C (p.Asp723=)
|
rs374483400
|
0.00002
|
NM_021098.3(CACNA1H):c.2173C>T (p.Arg725Cys)
|
rs764438301
|
0.00002
|
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val)
|
rs1433384279
|
0.00002
|
NM_021098.3(CACNA1H):c.221C>T (p.Ala74Val)
|
rs1039258079
|
0.00002
|
NM_021098.3(CACNA1H):c.2240G>A (p.Arg747His)
|
rs781343756
|
0.00002
|
NM_021098.3(CACNA1H):c.2331C>T (p.Arg777=)
|
rs752099217
|
0.00002
|
NM_021098.3(CACNA1H):c.237C>G (p.Val79=)
|
rs994984264
|
0.00002
|
NM_021098.3(CACNA1H):c.2442C>T (p.Tyr814=)
|
rs758897141
|
0.00002
|
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met)
|
rs119454949
|
0.00002
|
NM_021098.3(CACNA1H):c.2502C>T (p.Ser834=)
|
rs1348188346
|
0.00002
|
NM_021098.3(CACNA1H):c.2541C>T (p.Cys847=)
|
rs201227047
|
0.00002
|
NM_021098.3(CACNA1H):c.2584G>A (p.Gly862Ser)
|
rs747426357
|
0.00002
|
NM_021098.3(CACNA1H):c.2656T>G (p.Phe886Val)
|
rs1482408749
|
0.00002
|
NM_021098.3(CACNA1H):c.2687G>A (p.Arg896His)
|
rs1356449722
|
0.00002
|
NM_021098.3(CACNA1H):c.271A>G (p.Ser91Gly)
|
rs1035103368
|
0.00002
|
NM_021098.3(CACNA1H):c.2772C>T (p.Leu924=)
|
rs777961380
|
0.00002
|
NM_021098.3(CACNA1H):c.2806C>G (p.Leu936Val)
|
rs1471872554
|
0.00002
|
NM_021098.3(CACNA1H):c.2845G>A (p.Asp949Asn)
|
rs751635916
|
0.00002
|
NM_021098.3(CACNA1H):c.2907+10G>A
|
rs781264742
|
0.00002
|
NM_021098.3(CACNA1H):c.2919G>A (p.Gln973=)
|
rs1297223730
|
0.00002
|
NM_021098.3(CACNA1H):c.2933T>C (p.Val978Ala)
|
rs776860363
|
0.00002
|
NM_021098.3(CACNA1H):c.2986G>A (p.Val996Met)
|
rs769872866
|
0.00002
|
NM_021098.3(CACNA1H):c.300-9C>T
|
rs546397615
|
0.00002
|
NM_021098.3(CACNA1H):c.3003C>T (p.Phe1001=)
|
rs761698159
|
0.00002
|
NM_021098.3(CACNA1H):c.3064-6G>A
|
rs1489099879
|
0.00002
|
NM_021098.3(CACNA1H):c.3067G>A (p.Asp1023Asn)
|
rs977157885
|
0.00002
|
NM_021098.3(CACNA1H):c.313G>A (p.Val105Met)
|
rs1437402680
|
0.00002
|
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu)
|
rs1245328322
|
0.00002
|
NM_021098.3(CACNA1H):c.322C>G (p.Leu108Val)
|
rs746135723
|
0.00002
|
NM_021098.3(CACNA1H):c.3310C>T (p.Arg1104Trp)
|
rs1198273560
|
0.00002
|
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His)
|
rs369475886
|
0.00002
|
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr)
|
rs375742212
|
0.00002
|
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)
|
rs754581272
|
0.00002
|
NM_021098.3(CACNA1H):c.3659A>G (p.Gln1220Arg)
|
rs763161866
|
0.00002
|
NM_021098.3(CACNA1H):c.3732C>T (p.Asp1244=)
|
rs755463348
|
0.00002
|
NM_021098.3(CACNA1H):c.3768A>G (p.Lys1256=)
|
rs1232013182
|
0.00002
|
NM_021098.3(CACNA1H):c.3800G>A (p.Arg1267Gln)
|
rs557125328
|
0.00002
|
NM_021098.3(CACNA1H):c.3845+7C>T
|
rs371494399
|
0.00002
|
NM_021098.3(CACNA1H):c.3850C>T (p.Arg1284Cys)
|
rs541678072
|
0.00002
|
NM_021098.3(CACNA1H):c.3853G>A (p.Val1285Ile)
|
rs761199543
|
0.00002
|
NM_021098.3(CACNA1H):c.3857C>G (p.Ser1286Cys)
|
rs776740325
|
0.00002
|
NM_021098.3(CACNA1H):c.3952A>G (p.Ile1318Val)
|
rs775456399
|
0.00002
|
NM_021098.3(CACNA1H):c.3961G>A (p.Gly1321Ser)
|
rs368825972
|
0.00002
|
NM_021098.3(CACNA1H):c.3970-10C>T
|
rs377114648
|
0.00002
|
NM_021098.3(CACNA1H):c.3982C>T (p.Leu1328Phe)
|
rs746834232
|
0.00002
|
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val)
|
rs371030255
|
0.00002
|
NM_021098.3(CACNA1H):c.4038+7C>T
|
rs745781473
|
0.00002
|
NM_021098.3(CACNA1H):c.4039-5C>T
|
rs750657572
|
0.00002
|
NM_021098.3(CACNA1H):c.4071C>T (p.His1357=)
|
rs763335539
|
0.00002
|
NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu)
|
rs1263557227
|
0.00002
|
NM_021098.3(CACNA1H):c.4224-11C>T
|
rs371952675
|
0.00002
|
NM_021098.3(CACNA1H):c.42C>T (p.Pro14=)
|
rs1486745172
|
0.00002
|
NM_021098.3(CACNA1H):c.4351-13C>T
|
rs1428846125
|
0.00002
|
NM_021098.3(CACNA1H):c.4461C>T (p.Phe1487=)
|
rs767786667
|
0.00002
|
NM_021098.3(CACNA1H):c.4476+12G>A
|
rs757993233
|
0.00002
|
NM_021098.3(CACNA1H):c.4477-7C>T
|
rs984880682
|
0.00002
|
NM_021098.3(CACNA1H):c.4500G>A (p.Leu1500=)
|
rs374098971
|
0.00002
|
NM_021098.3(CACNA1H):c.450G>T (p.Glu150Asp)
|
rs753922811
|
0.00002
|
NM_021098.3(CACNA1H):c.4549G>A (p.Val1517Met)
|
rs778002223
|
0.00002
|
NM_021098.3(CACNA1H):c.4701G>A (p.Ala1567=)
|
rs375199752
|
0.00002
|
NM_021098.3(CACNA1H):c.4715G>A (p.Arg1572Gln)
|
rs541249511
|
0.00002
|
NM_021098.3(CACNA1H):c.4764T>G (p.Thr1588=)
|
rs779044290
|
0.00002
|
NM_021098.3(CACNA1H):c.4795T>C (p.Tyr1599His)
|
rs760412982
|
0.00002
|
NM_021098.3(CACNA1H):c.4819C>T (p.Arg1607Cys)
|
rs1315448028
|
0.00002
|
NM_021098.3(CACNA1H):c.4906A>G (p.Met1636Val)
|
rs371096587
|
0.00002
|
NM_021098.3(CACNA1H):c.4929+9G>A
|
rs758205516
|
0.00002
|
NM_021098.3(CACNA1H):c.5030T>C (p.Phe1677Ser)
|
rs759088401
|
0.00002
|
NM_021098.3(CACNA1H):c.5103A>G (p.Ile1701Met)
|
rs779872782
|
0.00002
|
NM_021098.3(CACNA1H):c.5112C>T (p.Ser1704=)
|
rs748750792
|
0.00002
|
NM_021098.3(CACNA1H):c.5207G>A (p.Arg1736His)
|
rs3889063
|
0.00002
|
NM_021098.3(CACNA1H):c.5245-6G>A
|
rs549929595
|
0.00002
|
NM_021098.3(CACNA1H):c.5259C>T (p.Gly1753=)
|
rs764802620
|
0.00002
|
NM_021098.3(CACNA1H):c.5260C>T (p.Leu1754Phe)
|
rs369220355
|
0.00002
|
NM_021098.3(CACNA1H):c.528C>T (p.Phe176=)
|
rs763776082
|
0.00002
|
NM_021098.3(CACNA1H):c.545+9C>T
|
rs779651648
|
0.00002
|
NM_021098.3(CACNA1H):c.5520C>T (p.Phe1840=)
|
rs899047966
|
0.00002
|
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser)
|
rs767275498
|
0.00002
|
NM_021098.3(CACNA1H):c.5754G>A (p.Lys1918=)
|
rs764500957
|
0.00002
|
NM_021098.3(CACNA1H):c.5795A>C (p.Tyr1932Ser)
|
rs917012995
|
0.00002
|
NM_021098.3(CACNA1H):c.5864C>T (p.Thr1955Ile)
|
rs766939282
|
0.00002
|
NM_021098.3(CACNA1H):c.5892C>T (p.Ser1964=)
|
rs1303447893
|
0.00002
|
NM_021098.3(CACNA1H):c.5980C>T (p.Pro1994Ser)
|
rs1014679279
|
0.00002
|
NM_021098.3(CACNA1H):c.6119C>T (p.Pro2040Leu)
|
rs776422410
|
0.00002
|
NM_021098.3(CACNA1H):c.6257C>G (p.Pro2086Arg)
|
rs563954985
|
0.00002
|
NM_021098.3(CACNA1H):c.6261C>T (p.Gly2087=)
|
rs372118811
|
0.00002
|
NM_021098.3(CACNA1H):c.6345C>T (p.Ala2115=)
|
rs529859576
|
0.00002
|
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys)
|
rs768078771
|
0.00002
|
NM_021098.3(CACNA1H):c.6361G>A (p.Glu2121Lys)
|
rs765011476
|
0.00002
|
NM_021098.3(CACNA1H):c.6378C>T (p.Ala2126=)
|
rs780808265
|
0.00002
|
NM_021098.3(CACNA1H):c.6382G>A (p.Gly2128Ser)
|
rs748564400
|
0.00002
|
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His)
|
rs752385455
|
0.00002
|
NM_021098.3(CACNA1H):c.644-7C>T
|
rs545310896
|
0.00002
|
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys)
|
rs1244507563
|
0.00002
|
NM_021098.3(CACNA1H):c.6555G>A (p.Lys2185=)
|
rs528748865
|
0.00002
|
NM_021098.3(CACNA1H):c.6557A>T (p.Lys2186Met)
|
rs370464756
|
0.00002
|
NM_021098.3(CACNA1H):c.6588C>T (p.Pro2196=)
|
rs777569297
|
0.00002
|
NM_021098.3(CACNA1H):c.6590C>T (p.Pro2197Leu)
|
rs770865543
|
0.00002
|
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu)
|
rs754398374
|
0.00002
|
NM_021098.3(CACNA1H):c.6624G>A (p.Ala2208=)
|
rs770681199
|
0.00002
|
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys)
|
rs761083620
|
0.00002
|
NM_021098.3(CACNA1H):c.6677C>T (p.Thr2226Met)
|
rs751787751
|
0.00002
|
NM_021098.3(CACNA1H):c.6769C>T (p.Arg2257Trp)
|
rs770202267
|
0.00002
|
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu)
|
rs778943919
|
0.00002
|
NM_021098.3(CACNA1H):c.6810G>A (p.Pro2270=)
|
rs113064034
|
0.00002
|
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)
|
rs760918600
|
0.00002
|
NM_021098.3(CACNA1H):c.6933C>T (p.Pro2311=)
|
rs1385264146
|
0.00002
|
NM_021098.3(CACNA1H):c.6964C>T (p.Arg2322Trp)
|
rs987712309
|
0.00002
|
NM_021098.3(CACNA1H):c.793G>A (p.Ala265Thr)
|
rs768878179
|
0.00002
|
NM_021098.3(CACNA1H):c.823C>T (p.Leu275=)
|
rs778739975
|
0.00002
|
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu)
|
rs372848579
|
0.00002
|
NM_021098.3(CACNA1H):c.842C>T (p.Thr281Met)
|
rs774565789
|
0.00002
|
NM_021098.3(CACNA1H):c.876C>T (p.Ser292=)
|
rs376102066
|
0.00002
|
NM_021098.3(CACNA1H):c.906C>T (p.Cys302=)
|
rs554546755
|
0.00002
|
NM_021098.3(CACNA1H):c.912C>G (p.His304Gln)
|
rs377665479
|
0.00002
|
NM_021098.3(CACNA1H):c.922C>T (p.Arg308Cys)
|
rs764910199
|
0.00002
|
NM_021912.5(GABRB3):c.80+10G>A
|
rs763316211
|
0.00002
|
NM_145893.3(RBFOX1):c.84T>G (p.Ile28Met)
|
rs766344856
|
0.00002
|
NM_198904.4(GABRG2):c.1053G>A (p.Val351=)
|
rs149472714
|
0.00002
|
NM_198904.4(GABRG2):c.1088G>A (p.Arg363Gln)
|
rs780199000
|
0.00002
|
NM_198904.4(GABRG2):c.1350C>T (p.Asp450=)
|
rs202246006
|
0.00002
|
NM_198904.4(GABRG2):c.353C>T (p.Ala118Val)
|
rs772800839
|
0.00002
|
NM_198904.4(GABRG2):c.582G>A (p.Leu194=)
|
rs781498456
|
0.00002
|
NM_198904.4(GABRG2):c.631+19C>A
|
rs1157159527
|
0.00002
|
NM_198904.4(GABRG2):c.691G>A (p.Asp231Asn)
|
rs773065895
|
0.00002
|
NM_198904.4(GABRG2):c.753A>C (p.Val251=)
|
rs764267675
|
0.00002
|
NM_198904.4(GABRG2):c.759G>A (p.Lys253=)
|
rs202124575
|
0.00002
|
NM_000726.5(CACNB4):c.1021-9T>C
|
rs1291994687
|
0.00001
|
NM_000726.5(CACNB4):c.1061G>A (p.Ser354Asn)
|
rs1559868500
|
0.00001
|
NM_000726.5(CACNB4):c.1083G>A (p.Leu361=)
|
rs779341851
|
0.00001
|
NM_000726.5(CACNB4):c.1272A>G (p.Ser424=)
|
rs767662214
|
0.00001
|
NM_000726.5(CACNB4):c.1310G>A (p.Arg437Gln)
|
rs751754026
|
0.00001
|
NM_000726.5(CACNB4):c.1318C>G (p.His440Asp)
|
rs1553740358
|
0.00001
|
NM_000726.5(CACNB4):c.1417C>T (p.Arg473Cys)
|
rs755031838
|
0.00001
|
NM_000726.5(CACNB4):c.1456C>A (p.Pro486Thr)
|
rs1351243423
|
0.00001
|
NM_000726.5(CACNB4):c.1489C>A (p.Gln497Lys)
|
rs1354478341
|
0.00001
|
NM_000726.5(CACNB4):c.1500C>T (p.Tyr500=)
|
rs749277227
|
0.00001
|
NM_000726.5(CACNB4):c.1536T>C (p.Tyr512=)
|
rs779464772
|
0.00001
|
NM_000726.5(CACNB4):c.1550G>A (p.Arg517Gln)
|
rs760115429
|
0.00001
|
NM_000726.5(CACNB4):c.1554T>C (p.His518=)
|
rs766933826
|
0.00001
|
NM_000726.5(CACNB4):c.156G>A (p.Ala52=)
|
rs764332480
|
0.00001
|
NM_000726.5(CACNB4):c.288C>T (p.Ala96=)
|
rs558998873
|
0.00001
|
NM_000726.5(CACNB4):c.315C>T (p.Gly105=)
|
rs748422887
|
0.00001
|
NM_000726.5(CACNB4):c.316G>A (p.Ala106Thr)
|
rs781542443
|
0.00001
|
NM_000726.5(CACNB4):c.495A>T (p.Glu165Asp)
|
rs1261256653
|
0.00001
|
NM_000726.5(CACNB4):c.503G>A (p.Arg168Lys)
|
rs376364352
|
0.00001
|
NM_000726.5(CACNB4):c.621G>A (p.Thr207=)
|
rs778919621
|
0.00001
|
NM_000726.5(CACNB4):c.640G>A (p.Asp214Asn)
|
rs767538753
|
0.00001
|
NM_000726.5(CACNB4):c.809T>C (p.Val270Ala)
|
rs1578499181
|
0.00001
|
NM_000726.5(CACNB4):c.815A>G (p.Asn272Ser)
|
rs752007243
|
0.00001
|
NM_000726.5(CACNB4):c.869-5T>G
|
rs796052289
|
0.00001
|
NM_000726.5(CACNB4):c.869-8C>A
|
rs756966816
|
0.00001
|
NM_000726.5(CACNB4):c.930T>C (p.Val310=)
|
rs748444028
|
0.00001
|
NM_000726.5(CACNB4):c.984A>G (p.Ala328=)
|
rs532162701
|
0.00001
|
NM_000726.5(CACNB4):c.988A>G (p.Ile330Val)
|
rs751029383
|
0.00001
|
NM_000811.3(GABRA6):c.1053A>C (p.Lys351Asn)
|
rs750458393
|
0.00001
|
NM_000814.6(GABRB3):c.1059T>C (p.Arg353=)
|
rs373254789
|
0.00001
|
NM_000814.6(GABRB3):c.1069G>A (p.Glu357Lys)
|
rs572427454
|
0.00001
|
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp)
|
rs771568810
|
0.00001
|
NM_000814.6(GABRB3):c.1079G>A (p.Arg360Gln)
|
rs778442239
|
0.00001
|
NM_000814.6(GABRB3):c.1104G>C (p.Leu368=)
|
rs777145235
|
0.00001
|
NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser)
|
rs756866953
|
0.00001
|
NM_000814.6(GABRB3):c.1139A>C (p.Glu380Ala)
|
rs745675693
|
0.00001
|
NM_000814.6(GABRB3):c.1153A>G (p.Ile385Val)
|
rs1352939866
|
0.00001
|
NM_000814.6(GABRB3):c.1226G>A (p.Arg409Gln)
|
rs766795597
|
0.00001
|
NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln)
|
rs373229638
|
0.00001
|
NM_000814.6(GABRB3):c.1286G>A (p.Arg429Gln)
|
rs777882335
|
0.00001
|
NM_000814.6(GABRB3):c.1327A>T (p.Thr443Ser)
|
rs1218316231
|
0.00001
|
NM_000814.6(GABRB3):c.1329C>T (p.Thr443=)
|
rs754147659
|
0.00001
|
NM_000814.6(GABRB3):c.1330G>A (p.Asp444Asn)
|
rs766672883
|
0.00001
|
NM_000814.6(GABRB3):c.1362C>T (p.Ile454=)
|
rs745449592
|
0.00001
|
NM_000814.6(GABRB3):c.136A>C (p.Lys46Gln)
|
rs1057520112
|
0.00001
|
NM_000814.6(GABRB3):c.172+16G>A
|
rs1891184947
|
0.00001
|
NM_000814.6(GABRB3):c.172+17C>T
|
rs1891184871
|
0.00001
|
NM_000814.6(GABRB3):c.172+8G>C
|
rs1451838565
|
0.00001
|
NM_000814.6(GABRB3):c.173-17T>A
|
rs1178284927
|
0.00001
|
NM_000814.6(GABRB3):c.173-5C>G
|
rs547678442
|
0.00001
|
NM_000814.6(GABRB3):c.183C>G (p.Val61=)
|
rs778097525
|
0.00001
|
NM_000814.6(GABRB3):c.217G>C (p.Asp73His)
|
rs768859258
|
0.00001
|
NM_000814.6(GABRB3):c.241-8C>T
|
rs532293456
|
0.00001
|
NM_000814.6(GABRB3):c.291C>T (p.Leu97=)
|
rs779511362
|
0.00001
|
NM_000814.6(GABRB3):c.307C>T (p.Pro103Ser)
|
rs267604145
|
0.00001
|
NM_000814.6(GABRB3):c.329A>G (p.Asn110Ser)
|
rs751329477
|
0.00001
|
NM_000814.6(GABRB3):c.33C>T (p.Gly11=)
|
rs1219990897
|
0.00001
|
NM_000814.6(GABRB3):c.348A>G (p.Leu116=)
|
rs758378648
|
0.00001
|
NM_000814.6(GABRB3):c.34A>G (p.Ile12Val)
|
rs1451852360
|
0.00001
|
NM_000814.6(GABRB3):c.393G>T (p.Val131=)
|
rs1892476911
|
0.00001
|
NM_000814.6(GABRB3):c.434C>G (p.Pro145Arg)
|
rs1325124119
|
0.00001
|
NM_000814.6(GABRB3):c.558G>A (p.Thr186=)
|
rs745982738
|
0.00001
|
NM_000814.6(GABRB3):c.598G>A (p.Val200Ile)
|
rs372359936
|
0.00001
|
NM_000814.6(GABRB3):c.637A>G (p.Ile213Val)
|
rs749931408
|
0.00001
|
NM_000814.6(GABRB3):c.639C>T (p.Ile213=)
|
rs767178198
|
0.00001
|
NM_000814.6(GABRB3):c.640G>A (p.Val214Met)
|
rs761554616
|
0.00001
|
NM_000814.6(GABRB3):c.649C>T (p.Arg217Cys)
|
rs1301259280
|
0.00001
|
NM_000814.6(GABRB3):c.660G>A (p.Ser220=)
|
rs745841016
|
0.00001
|
NM_000814.6(GABRB3):c.682_682+3dup
|
rs1254941219
|
0.00001
|
NM_000814.6(GABRB3):c.683-16T>C
|
rs1269995867
|
0.00001
|
NM_000814.6(GABRB3):c.712C>T (p.Arg238Trp)
|
rs144496462
|
0.00001
|
NM_000814.6(GABRB3):c.713G>A (p.Arg238Gln)
|
rs773257229
|
0.00001
|
NM_000814.6(GABRB3):c.73G>T (p.Ala25Ser)
|
rs1448726231
|
0.00001
|
NM_000814.6(GABRB3):c.774G>A (p.Thr258=)
|
rs779417468
|
0.00001
|
NM_000814.6(GABRB3):c.81-11C>T
|
rs759375301
|
0.00001
|
NM_000814.6(GABRB3):c.847G>A (p.Val283Met)
|
rs1595440460
|
0.00001
|
NM_000814.6(GABRB3):c.975C>T (p.Ala325=)
|
rs1160874734
|
0.00001
|
NM_000815.5(GABRD):c.1001A>G (p.Asn334Ser)
|
rs764783225
|
0.00001
|
NM_000815.5(GABRD):c.1003G>A (p.Ala335Thr)
|
rs758908317
|
0.00001
|
NM_000815.5(GABRD):c.1032G>A (p.Lys344=)
|
rs773238325
|
0.00001
|
NM_000815.5(GABRD):c.1060A>G (p.Met354Val)
|
rs768220667
|
0.00001
|
NM_000815.5(GABRD):c.1100C>T (p.Ala367Val)
|
rs1020129541
|
0.00001
|
NM_000815.5(GABRD):c.1108G>A (p.Val370Ile)
|
rs1057519556
|
0.00001
|
NM_000815.5(GABRD):c.1151C>T (p.Pro384Leu)
|
rs764066786
|
0.00001
|
NM_000815.5(GABRD):c.1161G>A (p.Leu387=)
|
rs757988403
|
0.00001
|
NM_000815.5(GABRD):c.1194_1195del (p.Glu400fs)
|
rs1351197180
|
0.00001
|
NM_000815.5(GABRD):c.1223G>A (p.Arg408His)
|
rs901937998
|
0.00001
|
NM_000815.5(GABRD):c.1229G>T (p.Gly410Val)
|
rs200605909
|
0.00001
|
NM_000815.5(GABRD):c.1246C>T (p.Arg416Cys)
|
rs370735082
|
0.00001
|
NM_000815.5(GABRD):c.1247G>A (p.Arg416His)
|
rs1011029441
|
0.00001
|
NM_000815.5(GABRD):c.1269C>T (p.Asp423=)
|
rs958420807
|
0.00001
|
NM_000815.5(GABRD):c.1270G>A (p.Ala424Thr)
|
rs770260377
|
0.00001
|
NM_000815.5(GABRD):c.1284C>T (p.Asp428=)
|
rs749606562
|
0.00001
|
NM_000815.5(GABRD):c.1323C>T (p.Ala441=)
|
rs140601233
|
0.00001
|
NM_000815.5(GABRD):c.1338C>T (p.Tyr446=)
|
rs1274279096
|
0.00001
|
NM_000815.5(GABRD):c.136G>A (p.Gly46Arg)
|
rs1658879135
|
0.00001
|
NM_000815.5(GABRD):c.14C>G (p.Ala5Gly)
|
rs1207791272
|
0.00001
|
NM_000815.5(GABRD):c.15C>T (p.Ala5=)
|
rs1453164730
|
0.00001
|
NM_000815.5(GABRD):c.178G>A (p.Gly60Arg)
|
rs749214783
|
0.00001
|
NM_000815.5(GABRD):c.222C>T (p.Ser74=)
|
rs778846634
|
0.00001
|
NM_000815.5(GABRD):c.244A>G (p.Asn82Asp)
|
rs770620492
|
0.00001
|
NM_000815.5(GABRD):c.249+8C>G
|
rs769197624
|
0.00001
|
NM_000815.5(GABRD):c.249+8C>T
|
rs769197624
|
0.00001
|
NM_000815.5(GABRD):c.263C>T (p.Thr88Met)
|
rs373508468
|
0.00001
|
NM_000815.5(GABRD):c.367G>A (p.Asp123Asn)
|
rs1658901832
|
0.00001
|
NM_000815.5(GABRD):c.425A>G (p.Lys142Arg)
|
rs1183821856
|
0.00001
|
NM_000815.5(GABRD):c.470+7G>A
|
rs533453337
|
0.00001
|
NM_000815.5(GABRD):c.553+10T>C
|
rs769597473
|
0.00001
|
NM_000815.5(GABRD):c.590C>T (p.Ser197Leu)
|
rs750394202
|
0.00001
|
NM_000815.5(GABRD):c.596G>A (p.Ser199Asn)
|
rs779793371
|
0.00001
|
NM_000815.5(GABRD):c.612C>T (p.His204=)
|
rs375272573
|
0.00001
|
NM_000815.5(GABRD):c.65C>T (p.Thr22Ile)
|
rs1658715532
|
0.00001
|
NM_000815.5(GABRD):c.68+5G>C
|
rs1571022283
|
0.00001
|
NM_000815.5(GABRD):c.71C>T (p.Ala24Val)
|
rs748341188
|
0.00001
|
NM_000815.5(GABRD):c.728T>C (p.Leu243Pro)
|
rs1248355743
|
0.00001
|
NM_000815.5(GABRD):c.72G>A (p.Ala24=)
|
rs772327427
|
0.00001
|
NM_000815.5(GABRD):c.777C>T (p.Val259=)
|
rs553793272
|
0.00001
|
NM_000815.5(GABRD):c.786C>T (p.Val262=)
|
rs1217829506
|
0.00001
|
NM_000815.5(GABRD):c.828G>A (p.Val276=)
|
rs1012449006
|
0.00001
|
NM_000815.5(GABRD):c.84C>T (p.Ile28=)
|
rs769857211
|
0.00001
|
NM_000815.5(GABRD):c.931G>A (p.Asp311Asn)
|
rs1248660340
|
0.00001
|
NM_000815.5(GABRD):c.933C>T (p.Asp311=)
|
rs200124298
|
0.00001
|
NM_000815.5(GABRD):c.94G>A (p.Val32Met)
|
rs1295769740
|
0.00001
|
NM_000815.5(GABRD):c.960C>T (p.Phe320=)
|
rs201101812
|
0.00001
|
NM_000815.5(GABRD):c.972C>G (p.Ala324=)
|
rs368765147
|
0.00001
|
NM_000815.5(GABRD):c.992C>G (p.Ala331Gly)
|
rs1164930036
|
0.00001
|
NM_000815.5(GABRD):c.99C>T (p.Gly33=)
|
rs761436257
|
0.00001
|
NM_001127644.2(GABRA1):c.1026T>C (p.Tyr342=)
|
rs750925935
|
0.00001
|
NM_001127644.2(GABRA1):c.1045G>A (p.Val349Met)
|
rs1755340949
|
0.00001
|
NM_001127644.2(GABRA1):c.1104C>T (p.Tyr368=)
|
rs771832995
|
0.00001
|
NM_001127644.2(GABRA1):c.1108C>A (p.Pro370Thr)
|
rs1424508480
|
0.00001
|
NM_001127644.2(GABRA1):c.1127C>A (p.Thr376Asn)
|
rs761617651
|
0.00001
|
NM_001127644.2(GABRA1):c.1147G>A (p.Asp383Asn)
|
rs375377575
|
0.00001
|
NM_001127644.2(GABRA1):c.1156T>G (p.Leu386Val)
|
rs771316858
|
0.00001
|
NM_001127644.2(GABRA1):c.1179A>C (p.Ala393=)
|
rs779528536
|
0.00001
|
NM_001127644.2(GABRA1):c.1206C>T (p.Pro402=)
|
rs541335259
|
0.00001
|
NM_001127644.2(GABRA1):c.1228A>G (p.Lys410Glu)
|
rs1424659316
|
0.00001
|
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val)
|
rs1057518405
|
0.00001
|
NM_001127644.2(GABRA1):c.1337A>G (p.Glu446Gly)
|
rs1755418006
|
0.00001
|
NM_001127644.2(GABRA1):c.1357A>G (p.Thr453Ala)
|
rs747892371
|
0.00001
|
NM_001127644.2(GABRA1):c.1358C>T (p.Thr453Ile)
|
rs1755420544
|
0.00001
|
NM_001127644.2(GABRA1):c.188A>C (p.Glu63Ala)
|
rs1429109541
|
0.00001
|
NM_001127644.2(GABRA1):c.219C>T (p.Phe73=)
|
rs1436904885
|
0.00001
|
NM_001127644.2(GABRA1):c.256-9A>T
|
rs1325544924
|
0.00001
|
NM_001127644.2(GABRA1):c.32T>C (p.Leu11Pro)
|
rs762939760
|
0.00001
|
NM_001127644.2(GABRA1):c.372G>A (p.Pro124=)
|
rs1378731581
|
0.00001
|
NM_001127644.2(GABRA1):c.378A>G (p.Thr126=)
|
rs756299135
|
0.00001
|
NM_001127644.2(GABRA1):c.385C>T (p.His129Tyr)
|
rs146134200
|
0.00001
|
NM_001127644.2(GABRA1):c.408C>T (p.Ala136=)
|
rs771269673
|
0.00001
|
NM_001127644.2(GABRA1):c.422T>G (p.Met141Arg)
|
rs1235304350
|
0.00001
|
NM_001127644.2(GABRA1):c.459C>T (p.Thr153=)
|
rs761693717
|
0.00001
|
NM_001127644.2(GABRA1):c.476+13G>A
|
rs758229064
|
0.00001
|
NM_001127644.2(GABRA1):c.476+17T>C
|
rs752753999
|
0.00001
|
NM_001127644.2(GABRA1):c.476+6G>A
|
rs764873956
|
0.00001
|
NM_001127644.2(GABRA1):c.477-5T>C
|
rs779231183
|
0.00001
|
NM_001127644.2(GABRA1):c.478C>T (p.Leu160=)
|
rs1269683161
|
0.00001
|
NM_001127644.2(GABRA1):c.531C>T (p.Ala177=)
|
rs747452052
|
0.00001
|
NM_001127644.2(GABRA1):c.602A>G (p.Glu201Gly)
|
rs765292293
|
0.00001
|
NM_001127644.2(GABRA1):c.611G>A (p.Arg204His)
|
rs777320447
|
0.00001
|
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=)
|
rs372742479
|
0.00001
|
NM_001127644.2(GABRA1):c.677A>G (p.Asp226Gly)
|
rs748783999
|
0.00001
|
NM_001127644.2(GABRA1):c.691C>G (p.Gln231Glu)
|
rs1173993011
|
0.00001
|
NM_001127644.2(GABRA1):c.704-18G>A
|
rs758058259
|
0.00001
|
NM_001127644.2(GABRA1):c.74+10C>G
|
rs557887445
|
0.00001
|
NM_001127644.2(GABRA1):c.78T>C (p.Tyr26=)
|
rs779666888
|
0.00001
|
NM_001127644.2(GABRA1):c.831G>A (p.Glu277=)
|
rs764666718
|
0.00001
|
NM_001127644.2(GABRA1):c.857-3C>T
|
rs1323709924
|
0.00001
|
NM_001127644.2(GABRA1):c.857-5T>C
|
rs543710675
|
0.00001
|
NM_001127644.2(GABRA1):c.87G>A (p.Pro29=)
|
rs374399356
|
0.00001
|
NM_001127644.2(GABRA1):c.8A>G (p.Lys3Arg)
|
rs111452646
|
0.00001
|
NM_001127644.2(GABRA1):c.94C>A (p.Gln32Lys)
|
rs769743354
|
0.00001
|
NM_001127644.2(GABRA1):c.972G>T (p.Val324=)
|
rs145617915
|
0.00001
|
NM_001350451.2(RBFOX3):c.1028C>T (p.Pro343Leu)
|
rs1208480613
|
0.00001
|
NM_001350451.2(RBFOX3):c.1051G>A (p.Ala351Thr)
|
rs1003593947
|
0.00001
|
NM_001350451.2(RBFOX3):c.1055C>T (p.Ala352Val)
|
rs1294363374
|
0.00001
|
NM_001350451.2(RBFOX3):c.1077+6G>A
|
rs757903881
|
0.00001
|
NM_001350451.2(RBFOX3):c.180C>T (p.Ser60=)
|
rs1226722084
|
0.00001
|
NM_001350451.2(RBFOX3):c.184G>A (p.Ala62Thr)
|
rs2033670420
|
0.00001
|
NM_001350451.2(RBFOX3):c.185C>T (p.Ala62Val)
|
rs1289325621
|
0.00001
|
NM_001350451.2(RBFOX3):c.222+11C>T
|
rs2033658024
|
0.00001
|
NM_001350451.2(RBFOX3):c.236C>T (p.Ala79Val)
|
rs776016743
|
0.00001
|
NM_001350451.2(RBFOX3):c.277A>G (p.Thr93Ala)
|
rs1568139609
|
0.00001
|
NM_001350451.2(RBFOX3):c.278C>G (p.Thr93Arg)
|
rs1339077239
|
0.00001
|
NM_001350451.2(RBFOX3):c.339C>T (p.Pro113=)
|
rs758551578
|
0.00001
|
NM_001350451.2(RBFOX3):c.357C>T (p.Phe119=)
|
rs1207044826
|
0.00001
|
NM_001350451.2(RBFOX3):c.415-4A>G
|
rs878854169
|
0.00001
|
NM_001350451.2(RBFOX3):c.415-9T>C
|
rs878854170
|
0.00001
|
NM_001350451.2(RBFOX3):c.458G>A (p.Arg153Gln)
|
rs566515477
|
0.00001
|
NM_001350451.2(RBFOX3):c.568+7G>A
|
rs771129435
|
0.00001
|
NM_001350451.2(RBFOX3):c.623-11G>C
|
rs1170040285
|
0.00001
|
NM_001350451.2(RBFOX3):c.641C>A (p.Pro214His)
|
rs370372079
|
0.00001
|
NM_001350451.2(RBFOX3):c.646A>G (p.Thr216Ala)
|
rs1456815875
|
0.00001
|
NM_001350451.2(RBFOX3):c.647C>T (p.Thr216Ile)
|
rs1671568075
|
0.00001
|
NM_001350451.2(RBFOX3):c.665A>T (p.Tyr222Phe)
|
rs1568119836
|
0.00001
|
NM_001350451.2(RBFOX3):c.673G>A (p.Ala225Thr)
|
rs1479403018
|
0.00001
|
NM_001350451.2(RBFOX3):c.688C>T (p.Arg230Trp)
|
rs1170085775
|
0.00001
|
NM_001350451.2(RBFOX3):c.700G>A (p.Val234Met)
|
rs921899416
|
0.00001
|
NM_001350451.2(RBFOX3):c.709A>G (p.Thr237Ala)
|
rs551476510
|
0.00001
|
NM_001350451.2(RBFOX3):c.718G>A (p.Ala240Thr)
|
rs1381383669
|
0.00001
|
NM_001350451.2(RBFOX3):c.741C>T (p.Ile247=)
|
rs866943064
|
0.00001
|
NM_001350451.2(RBFOX3):c.750C>T (p.Tyr250=)
|
rs1015038952
|
0.00001
|
NM_001350451.2(RBFOX3):c.80C>T (p.Pro27Leu)
|
rs368393347
|
0.00001
|
NM_001350451.2(RBFOX3):c.912T>C (p.Asp304=)
|
rs1474903517
|
0.00001
|
NM_001350451.2(RBFOX3):c.942C>T (p.Gly314=)
|
rs746156238
|
0.00001
|
NM_001350451.2(RBFOX3):c.984A>T (p.Ala328=)
|
rs1201055787
|
0.00001
|
NM_018100.4(EFHC1):c.1047A>G (p.Pro349=)
|
rs1163603161
|
0.00001
|
NM_018100.4(EFHC1):c.1054C>T (p.Arg352Ter)
|
rs201118016
|
0.00001
|
NM_018100.4(EFHC1):c.1055G>A (p.Arg352Gln)
|
rs769745156
|
0.00001
|
NM_018100.4(EFHC1):c.1059G>A (p.Arg353=)
|
rs200024100
|
0.00001
|
NM_018100.4(EFHC1):c.1098del (p.Ile367fs)
|
rs1181131881
|
0.00001
|
NM_018100.4(EFHC1):c.1104T>C (p.Asp368=)
|
rs754355317
|
0.00001
|
NM_018100.4(EFHC1):c.110A>G (p.Tyr37Cys)
|
rs988250483
|
0.00001
|
NM_018100.4(EFHC1):c.1110C>T (p.Ser370=)
|
rs757987501
|
0.00001
|
NM_018100.4(EFHC1):c.1115G>A (p.Arg372Gln)
|
rs535905126
|
0.00001
|
NM_018100.4(EFHC1):c.1138-10G>A
|
rs764297951
|
0.00001
|
NM_018100.4(EFHC1):c.1182del (p.Gln395fs)
|
rs753549012
|
0.00001
|
NM_018100.4(EFHC1):c.124C>T (p.Arg42Cys)
|
rs748229072
|
0.00001
|
NM_018100.4(EFHC1):c.125G>A (p.Arg42His)
|
rs773598517
|
0.00001
|
NM_018100.4(EFHC1):c.1278+10A>G
|
rs1765388049
|
0.00001
|
NM_018100.4(EFHC1):c.1279-8C>G
|
rs751569889
|
0.00001
|
NM_018100.4(EFHC1):c.1288dup (p.Ile430fs)
|
rs752642262
|
0.00001
|
NM_018100.4(EFHC1):c.1337C>T (p.Thr446Ile)
|
rs753032457
|
0.00001
|
NM_018100.4(EFHC1):c.1373A>G (p.Asn458Ser)
|
rs1562462191
|
0.00001
|
NM_018100.4(EFHC1):c.1396T>G (p.Tyr466Asp)
|
rs373042342
|
0.00001
|
NM_018100.4(EFHC1):c.1409C>G (p.Thr470Ser)
|
rs201129694
|
0.00001
|
NM_018100.4(EFHC1):c.1443C>G (p.Asn481Lys)
|
rs186911667
|
0.00001
|
NM_018100.4(EFHC1):c.1449C>G (p.Val483=)
|
rs999038193
|
0.00001
|
NM_018100.4(EFHC1):c.144C>T (p.Gly48=)
|
rs372240827
|
0.00001
|
NM_018100.4(EFHC1):c.1492+1G>A
|
rs191404037
|
0.00001
|
NM_018100.4(EFHC1):c.1547T>C (p.Met516Thr)
|
rs372520849
|
0.00001
|
NM_018100.4(EFHC1):c.1558G>A (p.Ala520Thr)
|
rs763313820
|
0.00001
|
NM_018100.4(EFHC1):c.1565A>G (p.Gln522Arg)
|
rs752066434
|
0.00001
|
NM_018100.4(EFHC1):c.1586C>A (p.Ala529Glu)
|
rs759944784
|
0.00001
|
NM_018100.4(EFHC1):c.15C>T (p.Pro5=)
|
rs1339961633
|
0.00001
|
NM_018100.4(EFHC1):c.160T>C (p.Phe54Leu)
|
rs370815762
|
0.00001
|
NM_018100.4(EFHC1):c.1620G>A (p.Ala540=)
|
rs773438652
|
0.00001
|
NM_018100.4(EFHC1):c.1640+19G>C
|
rs1303813611
|
0.00001
|
NM_018100.4(EFHC1):c.1641-8C>A
|
rs1222704866
|
0.00001
|
NM_018100.4(EFHC1):c.1667T>C (p.Val556Ala)
|
rs543750772
|
0.00001
|
NM_018100.4(EFHC1):c.1821C>T (p.Asn607=)
|
rs777238548
|
0.00001
|
NM_018100.4(EFHC1):c.1834G>C (p.Asp612His)
|
rs1331948538
|
0.00001
|
NM_018100.4(EFHC1):c.1835A>C (p.Asp612Ala)
|
rs765750690
|
0.00001
|
NM_018100.4(EFHC1):c.187G>A (p.Asp63Asn)
|
rs750083920
|
0.00001
|
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys)
|
rs770182350
|
0.00001
|
NM_018100.4(EFHC1):c.199A>G (p.Ser67Gly)
|
rs766220714
|
0.00001
|
NM_018100.4(EFHC1):c.22G>C (p.Gly8Arg)
|
rs200510672
|
0.00001
|
NM_018100.4(EFHC1):c.248C>T (p.Ala83Val)
|
rs557599173
|
0.00001
|
NM_018100.4(EFHC1):c.249G>A (p.Ala83=)
|
rs149627167
|
0.00001
|
NM_018100.4(EFHC1):c.288A>G (p.Val96=)
|
rs1029149593
|
0.00001
|
NM_018100.4(EFHC1):c.290T>C (p.Leu97Pro)
|
rs1451023675
|
0.00001
|
NM_018100.4(EFHC1):c.333T>C (p.Thr111=)
|
rs371542229
|
0.00001
|
NM_018100.4(EFHC1):c.339A>G (p.Glu113=)
|
rs774056218
|
0.00001
|
NM_018100.4(EFHC1):c.341A>G (p.Gln114Arg)
|
rs759050400
|
0.00001
|
NM_018100.4(EFHC1):c.476G>A (p.Arg159Gln)
|
rs1277516532
|
0.00001
|
NM_018100.4(EFHC1):c.547G>A (p.Val183Ile)
|
rs769591944
|
0.00001
|
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn)
|
rs148615781
|
0.00001
|
NM_018100.4(EFHC1):c.564A>G (p.Gln188=)
|
rs766444850
|
0.00001
|
NM_018100.4(EFHC1):c.59C>T (p.Ser20Phe)
|
rs147882603
|
0.00001
|
NM_018100.4(EFHC1):c.637A>T (p.Thr213Ser)
|
rs201379297
|
0.00001
|
NM_018100.4(EFHC1):c.639T>C (p.Thr213=)
|
rs1249877509
|
0.00001
|
NM_018100.4(EFHC1):c.663dup (p.Lys222Ter)
|
rs776734177
|
0.00001
|
NM_018100.4(EFHC1):c.66A>G (p.Lys22=)
|
rs1286302392
|
0.00001
|
NM_018100.4(EFHC1):c.681A>G (p.Ser227=)
|
rs772096798
|
0.00001
|
NM_018100.4(EFHC1):c.68C>T (p.Thr23Ile)
|
rs779993809
|
0.00001
|
NM_018100.4(EFHC1):c.693A>C (p.Gln231His)
|
rs375014511
|
0.00001
|
NM_018100.4(EFHC1):c.69A>T (p.Thr23=)
|
rs746911392
|
0.00001
|
NM_018100.4(EFHC1):c.702A>G (p.Gln234=)
|
rs1359654256
|
0.00001
|
NM_018100.4(EFHC1):c.723+10A>G
|
rs754567679
|
0.00001
|
NM_018100.4(EFHC1):c.723G>A (p.Gln241=)
|
rs750912328
|
0.00001
|
NM_018100.4(EFHC1):c.761G>A (p.Ser254Asn)
|
rs144739917
|
0.00001
|
NM_018100.4(EFHC1):c.762C>T (p.Ser254=)
|
rs375851193
|
0.00001
|
NM_018100.4(EFHC1):c.789C>T (p.Ile263=)
|
rs148936911
|
0.00001
|
NM_018100.4(EFHC1):c.797A>G (p.Tyr266Cys)
|
rs536323609
|
0.00001
|
NM_018100.4(EFHC1):c.815C>T (p.Thr272Met)
|
rs143655397
|
0.00001
|
NM_018100.4(EFHC1):c.827G>A (p.Arg276Gln)
|
rs758695181
|
0.00001
|
NM_018100.4(EFHC1):c.838G>A (p.Glu280Lys)
|
rs553105915
|
0.00001
|
NM_018100.4(EFHC1):c.841C>T (p.Arg281Trp)
|
rs1172185919
|
0.00001
|
NM_018100.4(EFHC1):c.854G>A (p.Arg285Lys)
|
rs17851771
|
0.00001
|
NM_018100.4(EFHC1):c.886C>T (p.Arg296Cys)
|
rs199814370
|
0.00001
|
NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu)
|
rs201263733
|
0.00001
|
NM_018100.4(EFHC1):c.917-7A>C
|
rs1266698847
|
0.00001
|
NM_018100.4(EFHC1):c.946T>G (p.Ser316Ala)
|
rs144708524
|
0.00001
|
NM_018100.4(EFHC1):c.952C>A (p.Gln318Lys)
|
rs1452409120
|
0.00001
|
NM_018100.4(EFHC1):c.961T>C (p.Leu321=)
|
rs751733899
|
0.00001
|
NM_018723.4(RBFOX1):c.1006G>C (p.Val336Leu)
|
rs766496349
|
0.00001
|
NM_018723.4(RBFOX1):c.1042C>G (p.Pro348Ala)
|
rs538050088
|
0.00001
|
NM_018723.4(RBFOX1):c.1132G>A (p.Val378Ile)
|
rs369122393
|
0.00001
|
NM_018723.4(RBFOX1):c.138C>T (p.Pro46=)
|
rs1315127050
|
0.00001
|
NM_018723.4(RBFOX1):c.163C>G (p.Gln55Glu)
|
rs1567632409
|
0.00001
|
NM_018723.4(RBFOX1):c.177C>T (p.Pro59=)
|
rs1304807131
|
0.00001
|
NM_018723.4(RBFOX1):c.186A>G (p.Thr62=)
|
rs759837636
|
0.00001
|
NM_018723.4(RBFOX1):c.191A>T (p.Asn64Ile)
|
rs753108920
|
0.00001
|
NM_018723.4(RBFOX1):c.200C>G (p.Pro67Arg)
|
rs1257361531
|
0.00001
|
NM_018723.4(RBFOX1):c.212C>A (p.Thr71Lys)
|
rs781081302
|
0.00001
|
NM_018723.4(RBFOX1):c.217T>G (p.Ser73Ala)
|
rs769785213
|
0.00001
|
NM_018723.4(RBFOX1):c.243C>T (p.Ser81=)
|
rs1268768787
|
0.00001
|
NM_018723.4(RBFOX1):c.244G>A (p.Ala82Thr)
|
rs758714800
|
0.00001
|
NM_018723.4(RBFOX1):c.271-4T>G
|
rs749852826
|
0.00001
|
NM_018723.4(RBFOX1):c.294G>C (p.Thr98=)
|
rs372977736
|
0.00001
|
NM_018723.4(RBFOX1):c.303G>A (p.Gln101=)
|
rs750342737
|
0.00001
|
NM_018723.4(RBFOX1):c.305C>T (p.Pro102Leu)
|
rs765974335
|
0.00001
|
NM_018723.4(RBFOX1):c.360T>C (p.His120=)
|
rs767190235
|
0.00001
|
NM_018723.4(RBFOX1):c.415-12A>G
|
rs751611395
|
0.00001
|
NM_018723.4(RBFOX1):c.43G>A (p.Ala15Thr)
|
rs1013691536
|
0.00001
|
NM_018723.4(RBFOX1):c.469-13C>T
|
rs1378738998
|
0.00001
|
NM_018723.4(RBFOX1):c.46G>A (p.Ala16Thr)
|
rs779321097
|
0.00001
|
NM_018723.4(RBFOX1):c.500C>T (p.Ala167Val)
|
rs773528139
|
0.00001
|
NM_018723.4(RBFOX1):c.538G>A (p.Val180Met)
|
rs372761949
|
0.00001
|
NM_018723.4(RBFOX1):c.562-20T>G
|
rs1355901802
|
0.00001
|
NM_018723.4(RBFOX1):c.562-5C>T
|
rs751374056
|
0.00001
|
NM_018723.4(RBFOX1):c.576A>T (p.Thr192=)
|
rs769265490
|
0.00001
|
NM_018723.4(RBFOX1):c.604G>A (p.Val202Ile)
|
rs774774269
|
0.00001
|
NM_018723.4(RBFOX1):c.611C>T (p.Pro204Leu)
|
rs1417087822
|
0.00001
|
NM_018723.4(RBFOX1):c.676+4C>T
|
rs370887797
|
0.00001
|
NM_018723.4(RBFOX1):c.676+6G>C
|
rs781701289
|
0.00001
|
NM_018723.4(RBFOX1):c.717C>T (p.Ser239=)
|
rs201549920
|
0.00001
|
NM_018723.4(RBFOX1):c.747T>C (p.Tyr249=)
|
rs779034823
|
0.00001
|
NM_018723.4(RBFOX1):c.757+14C>T
|
rs776439789
|
0.00001
|
NM_018723.4(RBFOX1):c.757+7C>T
|
rs958684686
|
0.00001
|
NM_018723.4(RBFOX1):c.771G>A (p.Pro257=)
|
rs916986800
|
0.00001
|
NM_018723.4(RBFOX1):c.801C>T (p.Tyr267=)
|
rs747421844
|
0.00001
|
NM_018723.4(RBFOX1):c.802C>A (p.Arg268=)
|
rs890155302
|
0.00001
|
NM_018723.4(RBFOX1):c.80C>T (p.Ser27Leu)
|
rs527782263
|
0.00001
|
NM_018723.4(RBFOX1):c.931-5159T>C
|
rs780351349
|
0.00001
|
NM_018723.4(RBFOX1):c.931-5224C>T
|
rs776577408
|
0.00001
|
NM_018723.4(RBFOX1):c.931-6T>C
|
rs1352822587
|
0.00001
|
NM_018723.4(RBFOX1):c.939T>C (p.Tyr313=)
|
rs1022794718
|
0.00001
|
NM_018723.4(RBFOX1):c.943G>A (p.Ala315Thr)
|
rs560607770
|
0.00001
|
NM_018723.4(RBFOX1):c.94C>G (p.Pro32Ala)
|
rs1567630819
|
0.00001
|
NM_018723.4(RBFOX1):c.98C>A (p.Pro33Gln)
|
rs750747492
|
0.00001
|
NM_018723.4(RBFOX1):c.995+19G>C
|
rs200394869
|
0.00001
|
NM_021098.3(CACNA1H):c.1007C>T (p.Ala336Val)
|
rs1482045966
|
0.00001
|
NM_021098.3(CACNA1H):c.1025A>G (p.Gln342Arg)
|
rs1171167857
|
0.00001
|
NM_021098.3(CACNA1H):c.1041C>T (p.Cys347=)
|
rs757510335
|
0.00001
|
NM_021098.3(CACNA1H):c.1074C>T (p.Ala358=)
|
rs531691647
|
0.00001
|
NM_021098.3(CACNA1H):c.1086C>T (p.Asp362=)
|
rs1401076912
|
0.00001
|
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys)
|
rs757422637
|
0.00001
|
NM_021098.3(CACNA1H):c.1120-4C>A
|
rs765058001
|
0.00001
|
NM_021098.3(CACNA1H):c.1137C>T (p.Gly379=)
|
rs751019130
|
0.00001
|
NM_021098.3(CACNA1H):c.1172A>G (p.His391Arg)
|
rs770983743
|
0.00001
|
NM_021098.3(CACNA1H):c.1177T>C (p.Phe393Leu)
|
rs1383967941
|
0.00001
|
NM_021098.3(CACNA1H):c.1189A>G (p.Ile397Val)
|
rs574543676
|
0.00001
|
NM_021098.3(CACNA1H):c.1198A>G (p.Ile400Val)
|
rs1196061479
|
0.00001
|
NM_021098.3(CACNA1H):c.1210A>G (p.Ile404Val)
|
rs751513581
|
0.00001
|
NM_021098.3(CACNA1H):c.1212+16A>G
|
rs1027399786
|
0.00001
|
NM_021098.3(CACNA1H):c.1212+19G>A
|
rs1261841681
|
0.00001
|
NM_021098.3(CACNA1H):c.1213-13G>A
|
rs747424487
|
0.00001
|
NM_021098.3(CACNA1H):c.1213-14C>T
|
rs1298937775
|
0.00001
|
NM_021098.3(CACNA1H):c.1213-9C>G
|
rs769924135
|
0.00001
|
NM_021098.3(CACNA1H):c.1237C>T (p.Leu413=)
|
rs751828544
|
0.00001
|
NM_021098.3(CACNA1H):c.1242C>T (p.Cys414=)
|
rs750964204
|
0.00001
|
NM_021098.3(CACNA1H):c.1245G>A (p.Leu415=)
|
rs1399878445
|
0.00001
|
NM_021098.3(CACNA1H):c.129G>A (p.Gly43=)
|
rs1286201611
|
0.00001
|
NM_021098.3(CACNA1H):c.1317C>T (p.Arg439=)
|
rs753868121
|
0.00001
|
NM_021098.3(CACNA1H):c.1321C>T (p.Leu441=)
|
rs889849697
|
0.00001
|
NM_021098.3(CACNA1H):c.1378C>T (p.Leu460=)
|
rs1164925886
|
0.00001
|
NM_021098.3(CACNA1H):c.1402T>C (p.Phe468Leu)
|
rs1275378306
|
0.00001
|
NM_021098.3(CACNA1H):c.1405C>T (p.Arg469Cys)
|
rs746748953
|
0.00001
|
NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala)
|
rs1555498163
|
0.00001
|
NM_021098.3(CACNA1H):c.1419G>A (p.Arg473=)
|
rs962535550
|
0.00001
|
NM_021098.3(CACNA1H):c.1428G>A (p.Leu476=)
|
rs955579974
|
0.00001
|
NM_021098.3(CACNA1H):c.1457G>T (p.Trp486Leu)
|
rs1967973162
|
0.00001
|
NM_021098.3(CACNA1H):c.1459C>T (p.Arg487Cys)
|
rs907429190
|
0.00001
|
NM_021098.3(CACNA1H):c.150C>T (p.Pro50=)
|
rs1355571002
|
0.00001
|
NM_021098.3(CACNA1H):c.1538C>T (p.Ser513Leu)
|
rs1333592686
|
0.00001
|
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His)
|
rs1230959391
|
0.00001
|
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)
|
rs1481524583
|
0.00001
|
NM_021098.3(CACNA1H):c.1624G>A (p.Glu542Lys)
|
rs761025927
|
0.00001
|
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr)
|
rs902030420
|
0.00001
|
NM_021098.3(CACNA1H):c.1638C>T (p.Cys546=)
|
rs1355615330
|
0.00001
|
NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr)
|
rs1056058034
|
0.00001
|
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala)
|
rs1474486162
|
0.00001
|
NM_021098.3(CACNA1H):c.1690C>T (p.Arg564Cys)
|
rs1316230541
|
0.00001
|
NM_021098.3(CACNA1H):c.1692C>T (p.Arg564=)
|
rs1259091648
|
0.00001
|
NM_021098.3(CACNA1H):c.1695A>C (p.Gly565=)
|
rs1272259379
|
0.00001
|
NM_021098.3(CACNA1H):c.16C>A (p.Arg6=)
|
rs1257574455
|
0.00001
|
NM_021098.3(CACNA1H):c.1705G>A (p.Ala569Thr)
|
rs752986607
|
0.00001
|
NM_021098.3(CACNA1H):c.1714G>A (p.Val572Met)
|
rs750654433
|
0.00001
|
NM_021098.3(CACNA1H):c.1716G>T (p.Val572=)
|
rs1324824751
|
0.00001
|
NM_021098.3(CACNA1H):c.1730A>G (p.His577Arg)
|
rs1318871844
|
0.00001
|
NM_021098.3(CACNA1H):c.1741C>T (p.His581Tyr)
|
rs752153295
|
0.00001
|
NM_021098.3(CACNA1H):c.1747G>C (p.Glu583Gln)
|
rs777448598
|
0.00001
|
NM_021098.3(CACNA1H):c.174C>T (p.Arg58=)
|
rs1292472390
|
0.00001
|
NM_021098.3(CACNA1H):c.1763G>A (p.Arg588Lys)
|
rs1439734393
|
0.00001
|
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr)
|
rs769240762
|
0.00001
|
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)
|
rs544916201
|
0.00001
|
NM_021098.3(CACNA1H):c.1808G>C (p.Arg603Thr)
|
rs61747577
|
0.00001
|
NM_021098.3(CACNA1H):c.1859G>A (p.Gly620Glu)
|
rs1428939766
|
0.00001
|
NM_021098.3(CACNA1H):c.1870G>A (p.Gly624Ser)
|
rs750987846
|
0.00001
|
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val)
|
rs771036445
|
0.00001
|
NM_021098.3(CACNA1H):c.1933G>A (p.Gly645Arg)
|
rs566589497
|
0.00001
|
NM_021098.3(CACNA1H):c.1937A>C (p.His646Pro)
|
rs767196759
|
0.00001
|
NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn)
|
rs1596270983
|
0.00001
|
NM_021098.3(CACNA1H):c.1955A>T (p.Asn652Ile)
|
rs1030011973
|
0.00001
|
NM_021098.3(CACNA1H):c.195C>T (p.Asp65=)
|
rs1052712888
|
0.00001
|
NM_021098.3(CACNA1H):c.1965T>C (p.Asp655=)
|
rs1182779689
|
0.00001
|
NM_021098.3(CACNA1H):c.1967C>T (p.Pro656Leu)
|
rs1474918637
|
0.00001
|
NM_021098.3(CACNA1H):c.1968C>T (p.Pro656=)
|
rs1163122575
|
0.00001
|
NM_021098.3(CACNA1H):c.1980C>A (p.Ile660=)
|
rs769960413
|
0.00001
|
NM_021098.3(CACNA1H):c.1982C>T (p.Pro661Leu)
|
rs780376174
|
0.00001
|
NM_021098.3(CACNA1H):c.1996G>A (p.Glu666Lys)
|
rs772141645
|
0.00001
|
NM_021098.3(CACNA1H):c.2002+10C>T
|
rs1388783364
|
0.00001
|
NM_021098.3(CACNA1H):c.2003-18C>G
|
rs747207529
|
0.00001
|
NM_021098.3(CACNA1H):c.2005C>G (p.Leu669Val)
|
rs747987613
|
0.00001
|
NM_021098.3(CACNA1H):c.2018C>G (p.Pro673Arg)
|
rs1466381514
|
0.00001
|
NM_021098.3(CACNA1H):c.2031G>A (p.Ser677=)
|
rs3751663
|
0.00001
|
NM_021098.3(CACNA1H):c.2175T>G (p.Arg725=)
|
rs1427937474
|
0.00001
|
NM_021098.3(CACNA1H):c.2178C>T (p.Gly726=)
|
rs565981897
|
0.00001
|
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)
|
rs779476529
|
0.00001
|
NM_021098.3(CACNA1H):c.2200G>A (p.Val734Ile)
|
rs1567519932
|
0.00001
|
NM_021098.3(CACNA1H):c.2202C>G (p.Val734=)
|
rs1222128472
|
0.00001
|
NM_021098.3(CACNA1H):c.2231G>A (p.Arg744Gln)
|
rs373764821
|
0.00001
|
NM_021098.3(CACNA1H):c.2238C>T (p.Pro746=)
|
rs747810957
|
0.00001
|
NM_021098.3(CACNA1H):c.2242G>A (p.Ala748Thr)
|
rs746275171
|
0.00001
|
NM_021098.3(CACNA1H):c.2279A>C (p.Gln760Pro)
|
rs764592377
|
0.00001
|
NM_021098.3(CACNA1H):c.2282G>A (p.Arg761Gln)
|
rs757946905
|
0.00001
|
NM_021098.3(CACNA1H):c.2284C>T (p.Arg762Trp)
|
rs777503810
|
0.00001
|
NM_021098.3(CACNA1H):c.2303C>T (p.Ala768Val)
|
rs957641440
|
0.00001
|
NM_021098.3(CACNA1H):c.2306C>T (p.Pro769Leu)
|
rs540638287
|
0.00001
|
NM_021098.3(CACNA1H):c.233C>T (p.Thr78Met)
|
rs1473122688
|
0.00001
|
NM_021098.3(CACNA1H):c.2367C>T (p.Ile789=)
|
rs761519926
|
0.00001
|
NM_021098.3(CACNA1H):c.2382C>T (p.Tyr794=)
|
rs957047269
|
0.00001
|
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys)
|
rs183042575
|
0.00001
|
NM_021098.3(CACNA1H):c.2394C>T (p.Gly798=)
|
rs777762276
|
0.00001
|
NM_021098.3(CACNA1H):c.2405C>T (p.Ala802Val)
|
rs781441262
|
0.00001
|
NM_021098.3(CACNA1H):c.2406C>T (p.Ala802=)
|
rs745614463
|
0.00001
|
NM_021098.3(CACNA1H):c.2452-12C>T
|
rs762240161
|
0.00001
|
NM_021098.3(CACNA1H):c.2471C>T (p.Ala824Val)
|
rs772602372
|
0.00001
|
NM_021098.3(CACNA1H):c.2475G>A (p.Leu825=)
|
rs572841580
|
0.00001
|
NM_021098.3(CACNA1H):c.2478G>C (p.Glu826Asp)
|
rs760796226
|
0.00001
|
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala)
|
rs1051410307
|
0.00001
|
NM_021098.3(CACNA1H):c.2501G>A (p.Ser834Asn)
|
rs1386150404
|
0.00001
|
NM_021098.3(CACNA1H):c.2512C>T (p.Leu838=)
|
rs951038626
|
0.00001
|
NM_021098.3(CACNA1H):c.2524C>T (p.Leu842=)
|
rs561709486
|
0.00001
|
NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val)
|
rs779724136
|
0.00001
|
NM_021098.3(CACNA1H):c.2556C>T (p.Tyr852=)
|
rs1227539325
|
0.00001
|
NM_021098.3(CACNA1H):c.2557A>G (p.Ile853Val)
|
rs906645609
|
0.00001
|
NM_021098.3(CACNA1H):c.2560C>T (p.Arg854Trp)
|
rs200427760
|
0.00001
|
NM_021098.3(CACNA1H):c.2593G>A (p.Val865Met)
|
rs1305844490
|
0.00001
|
NM_021098.3(CACNA1H):c.2603+3G>A
|
rs773966897
|
0.00001
|
NM_021098.3(CACNA1H):c.2603+9C>A
|
rs1461999845
|
0.00001
|
NM_021098.3(CACNA1H):c.2604-18G>A
|
rs139666228
|
0.00001
|
NM_021098.3(CACNA1H):c.2627C>T (p.Ala876Val)
|
rs770827490
|
0.00001
|
NM_021098.3(CACNA1H):c.2651G>A (p.Arg884His)
|
rs763861676
|
0.00001
|
NM_021098.3(CACNA1H):c.2668C>T (p.Arg890Cys)
|
rs1446439397
|
0.00001
|
NM_021098.3(CACNA1H):c.2686C>T (p.Arg896Cys)
|
rs1047092055
|
0.00001
|
NM_021098.3(CACNA1H):c.2698G>T (p.Ala900Ser)
|
rs1336532564
|
0.00001
|
NM_021098.3(CACNA1H):c.2704C>T (p.Arg902Trp)
|
rs779011503
|
0.00001
|
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His)
|
rs1057520721
|
0.00001
|
NM_021098.3(CACNA1H):c.2724G>A (p.Leu908=)
|
rs958354749
|
0.00001
|
NM_021098.3(CACNA1H):c.2741A>G (p.Asn914Ser)
|
rs769647241
|
0.00001
|
NM_021098.3(CACNA1H):c.2784C>T (p.Ile928=)
|
rs757421073
|
0.00001
|
NM_021098.3(CACNA1H):c.2789+16C>T
|
rs59952053
|
0.00001
|
NM_021098.3(CACNA1H):c.2789+9A>G
|
rs1968695390
|
0.00001
|
NM_021098.3(CACNA1H):c.2790-17C>T
|
rs1049605725
|
0.00001
|
NM_021098.3(CACNA1H):c.2790-9C>T
|
rs1477219178
|
0.00001
|
NM_021098.3(CACNA1H):c.2817C>T (p.Cys939=)
|
rs1336280254
|
0.00001
|
NM_021098.3(CACNA1H):c.2825G>C (p.Ser942Thr)
|
rs1012165881
|
0.00001
|
NM_021098.3(CACNA1H):c.282C>T (p.Leu94=)
|
rs960703593
|
0.00001
|
NM_021098.3(CACNA1H):c.2835A>G (p.Thr945=)
|
rs770089825
|
0.00001
|
NM_021098.3(CACNA1H):c.2899G>A (p.Val967Met)
|
rs1489760070
|
0.00001
|
NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys)
|
rs1266233731
|
0.00001
|
NM_021098.3(CACNA1H):c.2908-4C>T
|
rs937005376
|
0.00001
|
NM_021098.3(CACNA1H):c.2947G>A (p.Gly983Ser)
|
rs1968852331
|
0.00001
|
NM_021098.3(CACNA1H):c.2958C>T (p.Ser986=)
|
rs1030378085
|
0.00001
|
NM_021098.3(CACNA1H):c.2976C>T (p.Ala992=)
|
rs771600002
|
0.00001
|
NM_021098.3(CACNA1H):c.2991C>T (p.Ala997=)
|
rs1173690981
|
0.00001
|
NM_021098.3(CACNA1H):c.3015G>A (p.Val1005=)
|
rs369161410
|
0.00001
|
NM_021098.3(CACNA1H):c.3025C>T (p.Leu1009=)
|
rs745927407
|
0.00001
|
NM_021098.3(CACNA1H):c.3036C>T (p.Ala1012=)
|
rs780009943
|
0.00001
|
NM_021098.3(CACNA1H):c.3043G>A (p.Val1015Met)
|
rs376957651
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-15C>T
|
rs371897810
|
0.00001
|
NM_021098.3(CACNA1H):c.3064-19T>A
|
rs1322960336
|
0.00001
|
NM_021098.3(CACNA1H):c.3066C>T (p.Gly1022=)
|
rs757098120
|
0.00001
|
NM_021098.3(CACNA1H):c.3078A>G (p.Arg1026=)
|
rs575176246
|
0.00001
|
NM_021098.3(CACNA1H):c.307G>A (p.Glu103Lys)
|
rs970648879
|
0.00001
|
NM_021098.3(CACNA1H):c.3102G>A (p.Thr1034=)
|
rs766896791
|
0.00001
|
NM_021098.3(CACNA1H):c.3117G>A (p.Glu1039=)
|
rs1044744061
|
0.00001
|
NM_021098.3(CACNA1H):c.312C>T (p.His104=)
|
rs370735613
|
0.00001
|
NM_021098.3(CACNA1H):c.3154+5G>A
|
rs764360814
|
0.00001
|
NM_021098.3(CACNA1H):c.3155-15C>T
|
rs747740198
|
0.00001
|
NM_021098.3(CACNA1H):c.3155-18C>T
|
rs368193392
|
0.00001
|
NM_021098.3(CACNA1H):c.3170C>T (p.Ser1057Phe)
|
rs1435560643
|
0.00001
|
NM_021098.3(CACNA1H):c.3205C>T (p.Arg1069Ter)
|
rs780350191
|
0.00001
|
NM_021098.3(CACNA1H):c.3214C>G (p.Leu1072Val)
|
rs1238128692
|
0.00001
|
NM_021098.3(CACNA1H):c.3233T>C (p.Met1078Thr)
|
rs373102061
|
0.00001
|
NM_021098.3(CACNA1H):c.3252C>G (p.Pro1084=)
|
rs377223694
|
0.00001
|
NM_021098.3(CACNA1H):c.3262C>G (p.Pro1088Ala)
|
rs1358707581
|
0.00001
|
NM_021098.3(CACNA1H):c.3291C>T (p.Ala1097=)
|
rs368375074
|
0.00001
|
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)
|
rs764071122
|
0.00001
|
NM_021098.3(CACNA1H):c.3342A>G (p.Pro1114=)
|
rs540298431
|
0.00001
|
NM_021098.3(CACNA1H):c.3347G>A (p.Gly1116Glu)
|
rs757299200
|
0.00001
|
NM_021098.3(CACNA1H):c.3355A>G (p.Lys1119Glu)
|
rs1489047777
|
0.00001
|
NM_021098.3(CACNA1H):c.3358C>T (p.Pro1120Ser)
|
rs781140245
|
0.00001
|
NM_021098.3(CACNA1H):c.3359C>G (p.Pro1120Arg)
|
rs1431381776
|
0.00001
|
NM_021098.3(CACNA1H):c.3374G>A (p.Arg1125Gln)
|
rs771952308
|
0.00001
|
NM_021098.3(CACNA1H):c.3411C>T (p.Ala1137=)
|
rs1307971452
|
0.00001
|
NM_021098.3(CACNA1H):c.3445G>A (p.Gly1149Ser)
|
rs753696656
|
0.00001
|
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His)
|
rs772040768
|
0.00001
|
NM_021098.3(CACNA1H):c.3474C>T (p.Gly1158=)
|
rs1244188050
|
0.00001
|
NM_021098.3(CACNA1H):c.3495C>T (p.Ser1165=)
|
rs1053534342
|
0.00001
|
NM_021098.3(CACNA1H):c.3501G>C (p.Leu1167=)
|
rs1272961811
|
0.00001
|
NM_021098.3(CACNA1H):c.3508G>A (p.Glu1170Lys)
|
rs766406727
|
0.00001
|
NM_021098.3(CACNA1H):c.3531C>T (p.Asp1177=)
|
rs954264851
|
0.00001
|
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg)
|
rs772258959
|
0.00001
|
NM_021098.3(CACNA1H):c.355A>G (p.Met119Val)
|
rs778186545
|
0.00001
|
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu)
|
rs894257173
|
0.00001
|
NM_021098.3(CACNA1H):c.3565C>T (p.Arg1189Cys)
|
rs761063520
|
0.00001
|
NM_021098.3(CACNA1H):c.356T>C (p.Met119Thr)
|
rs529108681
|
0.00001
|
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp)
|
rs1399681066
|
0.00001
|
NM_021098.3(CACNA1H):c.3593C>T (p.Ser1198Phe)
|
rs1337992114
|
0.00001
|
NM_021098.3(CACNA1H):c.3624C>T (p.Ala1208=)
|
rs760038394
|
0.00001
|
NM_021098.3(CACNA1H):c.362G>A (p.Arg121Gln)
|
rs201931839
|
0.00001
|
NM_021098.3(CACNA1H):c.3630G>A (p.Pro1210=)
|
rs764420422
|
0.00001
|
NM_021098.3(CACNA1H):c.3639G>A (p.Lys1213=)
|
rs750319717
|
0.00001
|
NM_021098.3(CACNA1H):c.3651C>T (p.Arg1217=)
|
rs929083218
|
0.00001
|
NM_021098.3(CACNA1H):c.3652G>A (p.Asp1218Asn)
|
rs771215852
|
0.00001
|
NM_021098.3(CACNA1H):c.3654C>T (p.Asp1218=)
|
rs200922359
|
0.00001
|
NM_021098.3(CACNA1H):c.3675C>T (p.Pro1225=)
|
rs1454878776
|
0.00001
|
NM_021098.3(CACNA1H):c.3697G>A (p.Asp1233Asn)
|
rs768716174
|
0.00001
|
NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val)
|
rs774604155
|
0.00001
|
NM_021098.3(CACNA1H):c.3699C>T (p.Asp1233=)
|
rs369155203
|
0.00001
|
NM_021098.3(CACNA1H):c.36G>C (p.Arg12=)
|
rs1961896272
|
0.00001
|
NM_021098.3(CACNA1H):c.3702C>T (p.Ser1234=)
|
rs1176658784
|
0.00001
|
NM_021098.3(CACNA1H):c.3744+1G>A
|
rs770718464
|
0.00001
|
NM_021098.3(CACNA1H):c.3799C>T (p.Arg1267Trp)
|
rs751642419
|
0.00001
|
NM_021098.3(CACNA1H):c.3819C>T (p.Ala1273=)
|
rs746638277
|
0.00001
|
NM_021098.3(CACNA1H):c.3845+12G>A
|
rs1269104392
|
0.00001
|
NM_021098.3(CACNA1H):c.3845+9G>A
|
rs1357923086
|
0.00001
|
NM_021098.3(CACNA1H):c.3855C>T (p.Val1285=)
|
rs370662005
|
0.00001
|
NM_021098.3(CACNA1H):c.3885G>A (p.Met1295Ile)
|
rs1410255453
|
0.00001
|
NM_021098.3(CACNA1H):c.3894C>T (p.His1298=)
|
rs779815222
|
0.00001
|
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe)
|
rs1969297546
|
0.00001
|
NM_021098.3(CACNA1H):c.3903C>T (p.Leu1301=)
|
rs745990247
|
0.00001
|
NM_021098.3(CACNA1H):c.3915C>T (p.Phe1305=)
|
rs929332183
|
0.00001
|
NM_021098.3(CACNA1H):c.3933C>T (p.Ile1311=)
|
rs200353061
|
0.00001
|
NM_021098.3(CACNA1H):c.393G>A (p.Glu131=)
|
rs764502915
|
0.00001
|
NM_021098.3(CACNA1H):c.3962G>C (p.Gly1321Ala)
|
rs1043239667
|
0.00001
|
NM_021098.3(CACNA1H):c.3965G>A (p.Ser1322Asn)
|
rs1172795132
|
0.00001
|
NM_021098.3(CACNA1H):c.3967A>G (p.Thr1323Ala)
|
rs1373335448
|
0.00001
|
NM_021098.3(CACNA1H):c.3972G>A (p.Glu1324=)
|
rs772220413
|
0.00001
|
NM_021098.3(CACNA1H):c.39G>A (p.Val13=)
|
rs1306573144
|
0.00001
|
NM_021098.3(CACNA1H):c.4005C>T (p.Phe1335=)
|
rs1196975977
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+4C>T
|
rs1207045890
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+6G>A
|
rs112068805
|
0.00001
|
NM_021098.3(CACNA1H):c.4038+8G>A
|
rs555282047
|
0.00001
|
NM_021098.3(CACNA1H):c.4039-11G>A
|
rs369310607
|
0.00001
|
NM_021098.3(CACNA1H):c.4039-8C>T
|
rs757467258
|
0.00001
|
NM_021098.3(CACNA1H):c.4061C>T (p.Ser1354Phe)
|
rs754994425
|
0.00001
|
NM_021098.3(CACNA1H):c.4063G>A (p.Gly1355Ser)
|
rs747715176
|
0.00001
|
NM_021098.3(CACNA1H):c.4066G>A (p.Glu1356Lys)
|
rs772929276
|
0.00001
|
NM_021098.3(CACNA1H):c.4072G>A (p.Ala1358Thr)
|
rs764727820
|
0.00001
|
NM_021098.3(CACNA1H):c.4086C>T (p.Ser1362=)
|
rs767588625
|
0.00001
|
NM_021098.3(CACNA1H):c.4089C>G (p.Ser1363Arg)
|
rs867556563
|
0.00001
|
NM_021098.3(CACNA1H):c.4106G>A (p.Gly1369Glu)
|
rs372465607
|
0.00001
|
NM_021098.3(CACNA1H):c.411+17G>A
|
rs905191886
|
0.00001
|
NM_021098.3(CACNA1H):c.412-13C>T
|
rs1481054800
|
0.00001
|
NM_021098.3(CACNA1H):c.412-4G>A
|
rs747026006
|
0.00001
|
NM_021098.3(CACNA1H):c.4154C>T (p.Ser1385Leu)
|
rs773333921
|
0.00001
|
NM_021098.3(CACNA1H):c.4155G>A (p.Ser1385=)
|
rs535299188
|
0.00001
|
NM_021098.3(CACNA1H):c.4156G>A (p.Ala1386Thr)
|
rs766694151
|
0.00001
|
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys)
|
rs374596109
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+15G>A
|
rs751557016
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+5G>A
|
rs776869097
|
0.00001
|
NM_021098.3(CACNA1H):c.4223+8G>T
|
rs759696447
|
0.00001
|
NM_021098.3(CACNA1H):c.4288A>T (p.Ile1430Phe)
|
rs776156272
|
0.00001
|
NM_021098.3(CACNA1H):c.4290T>C (p.Ile1430=)
|
rs1596458193
|
0.00001
|
NM_021098.3(CACNA1H):c.4293G>A (p.Gly1431=)
|
rs759183838
|
0.00001
|
NM_021098.3(CACNA1H):c.4303C>T (p.Leu1435Phe)
|
rs762016050
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+15C>T
|
rs745322715
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+3G>A
|
rs1969415717
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+6T>C
|
rs367545564
|
0.00001
|
NM_021098.3(CACNA1H):c.4350+9C>A
|
rs1226634173
|
0.00001
|
NM_021098.3(CACNA1H):c.4351-15G>A
|
rs1366007380
|
0.00001
|
NM_021098.3(CACNA1H):c.4351-7C>T
|
rs757005584
|
0.00001
|
NM_021098.3(CACNA1H):c.4351-9C>T
|
rs1268437341
|
0.00001
|
NM_021098.3(CACNA1H):c.4376G>T (p.Cys1459Phe)
|
rs1403664698
|
0.00001
|
NM_021098.3(CACNA1H):c.4427C>T (p.Ala1476Val)
|
rs781394652
|
0.00001
|
NM_021098.3(CACNA1H):c.4465A>C (p.Asn1489His)
|
rs750626623
|
0.00001
|
NM_021098.3(CACNA1H):c.4465A>G (p.Asn1489Asp)
|
rs750626623
|
0.00001
|
NM_021098.3(CACNA1H):c.4467C>T (p.Asn1489=)
|
rs565030846
|
0.00001
|
NM_021098.3(CACNA1H):c.4476+16G>A
|
rs746670693
|
0.00001
|
NM_021098.3(CACNA1H):c.4487C>T (p.Ser1496Leu)
|
rs536269517
|
0.00001
|
NM_021098.3(CACNA1H):c.4495G>A (p.Val1499Met)
|
rs758872935
|
0.00001
|
NM_021098.3(CACNA1H):c.4527C>T (p.Ile1509=)
|
rs1384457303
|
0.00001
|
NM_021098.3(CACNA1H):c.453G>A (p.Met151Ile)
|
rs1490633400
|
0.00001
|
NM_021098.3(CACNA1H):c.4548C>T (p.Ala1516=)
|
rs986374718
|
0.00001
|
NM_021098.3(CACNA1H):c.4566+4C>T
|
rs199968897
|
0.00001
|
NM_021098.3(CACNA1H):c.4567-16C>T
|
rs759275235
|
0.00001
|
NM_021098.3(CACNA1H):c.456C>T (p.Val152=)
|
rs778939514
|
0.00001
|
NM_021098.3(CACNA1H):c.4615C>T (p.Leu1539=)
|
rs1165174775
|
0.00001
|
NM_021098.3(CACNA1H):c.4624G>A (p.Val1542Ile)
|
rs745495784
|
0.00001
|
NM_021098.3(CACNA1H):c.4646T>C (p.Met1549Thr)
|
rs1195869438
|
0.00001
|
NM_021098.3(CACNA1H):c.4685G>A (p.Arg1562Gln)
|
rs538666649
|
0.00001
|
NM_021098.3(CACNA1H):c.4688A>G (p.Gln1563Arg)
|
rs748978718
|
0.00001
|
NM_021098.3(CACNA1H):c.4704G>A (p.Glu1568=)
|
rs967037376
|
0.00001
|
NM_021098.3(CACNA1H):c.4710G>A (p.Ala1570=)
|
rs759616283
|
0.00001
|
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp)
|
rs58725680
|
0.00001
|
NM_021098.3(CACNA1H):c.4730G>A (p.Arg1577Gln)
|
rs1343159534
|
0.00001
|
NM_021098.3(CACNA1H):c.4738C>T (p.Arg1580Cys)
|
rs777159526
|
0.00001
|
NM_021098.3(CACNA1H):c.4754G>A (p.Arg1585His)
|
rs774569737
|
0.00001
|
NM_021098.3(CACNA1H):c.4760-2A>G
|
rs1468821137
|
0.00001
|
NM_021098.3(CACNA1H):c.4760-5T>A
|
rs1474686670
|
0.00001
|
NM_021098.3(CACNA1H):c.4773C>A (p.Ser1591Arg)
|
rs777805727
|
0.00001
|
NM_021098.3(CACNA1H):c.478C>T (p.Leu160=)
|
rs746919701
|
0.00001
|
NM_021098.3(CACNA1H):c.4794C>G (p.Pro1598=)
|
rs1442524100
|
0.00001
|
NM_021098.3(CACNA1H):c.4804G>A (p.Asp1602Asn)
|
rs201296407
|
0.00001
|
NM_021098.3(CACNA1H):c.4814C>A (p.Pro1605His)
|
rs761945003
|
0.00001
|
NM_021098.3(CACNA1H):c.4822C>T (p.Arg1608Cys)
|
rs531597200
|
0.00001
|
NM_021098.3(CACNA1H):c.4849C>T (p.His1617Tyr)
|
rs776165690
|
0.00001
|
NM_021098.3(CACNA1H):c.4871C>T (p.Thr1624Ile)
|
rs1015123563
|
0.00001
|
NM_021098.3(CACNA1H):c.4881C>T (p.Ile1627=)
|
rs576335604
|
0.00001
|
NM_021098.3(CACNA1H):c.4898C>G (p.Thr1633Ser)
|
rs1381765830
|
0.00001
|
NM_021098.3(CACNA1H):c.4907T>C (p.Met1636Thr)
|
rs577258290
|
0.00001
|
NM_021098.3(CACNA1H):c.4918A>G (p.Asn1640Asp)
|
rs1217478571
|
0.00001
|
NM_021098.3(CACNA1H):c.4927A>G (p.Lys1643Glu)
|
rs766396848
|
0.00001
|
NM_021098.3(CACNA1H):c.4929+5G>A
|
rs1054400971
|
0.00001
|
NM_021098.3(CACNA1H):c.4930-5C>T
|
rs1475010597
|
0.00001
|
NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu)
|
rs745902196
|
0.00001
|
NM_021098.3(CACNA1H):c.493T>C (p.Cys165Arg)
|
rs749032674
|
0.00001
|
NM_021098.3(CACNA1H):c.4976T>A (p.Val1659Glu)
|
rs751816236
|
0.00001
|
NM_021098.3(CACNA1H):c.4995A>G (p.Ala1665=)
|
rs776954477
|
0.00001
|
NM_021098.3(CACNA1H):c.5010A>G (p.Ala1670=)
|
rs774645679
|
0.00001
|
NM_021098.3(CACNA1H):c.5052G>A (p.Leu1684=)
|
rs374459574
|
0.00001
|
NM_021098.3(CACNA1H):c.5059G>A (p.Ala1687Thr)
|
rs374276829
|
0.00001
|
NM_021098.3(CACNA1H):c.5065G>A (p.Val1689Met)
|
rs754276994
|
0.00001
|
NM_021098.3(CACNA1H):c.5090C>T (p.Thr1697Met)
|
rs556827361
|
0.00001
|
NM_021098.3(CACNA1H):c.5091G>A (p.Thr1697=)
|
rs779699766
|
0.00001
|
NM_021098.3(CACNA1H):c.5115C>T (p.Ala1705=)
|
rs773959483
|
0.00001
|
NM_021098.3(CACNA1H):c.5118G>A (p.Ala1706=)
|
rs777120591
|
0.00001
|
NM_021098.3(CACNA1H):c.5124C>A (p.Pro1708=)
|
rs765715871
|
0.00001
|
NM_021098.3(CACNA1H):c.5143C>T (p.Arg1715Cys)
|
rs545768453
|
0.00001
|
NM_021098.3(CACNA1H):c.5145C>T (p.Arg1715=)
|
rs1182772693
|
0.00001
|
NM_021098.3(CACNA1H):c.5153G>A (p.Arg1718His)
|
rs375691821
|
0.00001
|
NM_021098.3(CACNA1H):c.5155G>A (p.Val1719Met)
|
rs768128693
|
0.00001
|
NM_021098.3(CACNA1H):c.5170C>T (p.Arg1724Cys)
|
rs771688999
|
0.00001
|
NM_021098.3(CACNA1H):c.5171G>A (p.Arg1724His)
|
rs1025818671
|
0.00001
|
NM_021098.3(CACNA1H):c.5182C>T (p.Leu1728=)
|
rs1267755673
|
0.00001
|
NM_021098.3(CACNA1H):c.5198C>T (p.Thr1733Met)
|
rs764098313
|
0.00001
|
NM_021098.3(CACNA1H):c.5211C>T (p.Ala1737=)
|
rs376540095
|
0.00001
|
NM_021098.3(CACNA1H):c.5217G>C (p.Leu1739=)
|
rs370996432
|
0.00001
|
NM_021098.3(CACNA1H):c.5238C>T (p.Leu1746=)
|
rs562034574
|
0.00001
|
NM_021098.3(CACNA1H):c.5267T>C (p.Phe1756Ser)
|
rs767973097
|
0.00001
|
NM_021098.3(CACNA1H):c.5268C>T (p.Phe1756=)
|
rs1309047669
|
0.00001
|
NM_021098.3(CACNA1H):c.5296C>T (p.Leu1766=)
|
rs1002262167
|
0.00001
|
NM_021098.3(CACNA1H):c.5324-14C>T
|
rs1047674521
|
0.00001
|
NM_021098.3(CACNA1H):c.5324-5C>T
|
rs1415182945
|
0.00001
|
NM_021098.3(CACNA1H):c.5407C>T (p.Arg1803Cys)
|
rs767277197
|
0.00001
|
NM_021098.3(CACNA1H):c.5436G>T (p.Gly1812=)
|
rs776172409
|
0.00001
|
NM_021098.3(CACNA1H):c.5445+7G>A
|
rs563361414
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-10C>G
|
rs1184041228
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-4G>A
|
rs1596475485
|
0.00001
|
NM_021098.3(CACNA1H):c.5446-6C>A
|
rs923710949
|
0.00001
|
NM_021098.3(CACNA1H):c.545+10G>T
|
rs748867788
|
0.00001
|
NM_021098.3(CACNA1H):c.545+14G>A
|
rs1175410177
|
0.00001
|
NM_021098.3(CACNA1H):c.5451G>A (p.Thr1817=)
|
rs1458725860
|
0.00001
|
NM_021098.3(CACNA1H):c.5458G>A (p.Glu1820Lys)
|
rs768988866
|
0.00001
|
NM_021098.3(CACNA1H):c.546-5C>T
|
rs369016752
|
0.00001
|
NM_021098.3(CACNA1H):c.546-9C>T
|
rs375982567
|
0.00001
|
NM_021098.3(CACNA1H):c.547A>C (p.Met183Leu)
|
rs763029586
|
0.00001
|
NM_021098.3(CACNA1H):c.5526C>T (p.Thr1842=)
|
rs375175536
|
0.00001
|
NM_021098.3(CACNA1H):c.5529C>T (p.Phe1843=)
|
rs758391189
|
0.00001
|
NM_021098.3(CACNA1H):c.552G>A (p.Met184Ile)
|
rs376566207
|
0.00001
|
NM_021098.3(CACNA1H):c.5550G>T (p.Val1850=)
|
rs1175007347
|
0.00001
|
NM_021098.3(CACNA1H):c.5571C>T (p.Ala1857=)
|
rs964898056
|
0.00001
|
NM_021098.3(CACNA1H):c.5577C>T (p.Leu1859=)
|
rs1305738018
|
0.00001
|
NM_021098.3(CACNA1H):c.5603A>G (p.Lys1868Arg)
|
rs1970204449
|
0.00001
|
NM_021098.3(CACNA1H):c.5609C>T (p.Ala1870Val)
|
rs773943668
|
0.00001
|
NM_021098.3(CACNA1H):c.561G>A (p.Ser187=)
|
rs762058094
|
0.00001
|
NM_021098.3(CACNA1H):c.5638A>G (p.Ile1880Val)
|
rs369689966
|
0.00001
|
NM_021098.3(CACNA1H):c.5640C>T (p.Ile1880=)
|
rs757358788
|
0.00001
|
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp)
|
rs899082537
|
0.00001
|
NM_021098.3(CACNA1H):c.5685C>T (p.Asp1895=)
|
rs1463806903
|
0.00001
|
NM_021098.3(CACNA1H):c.5687C>T (p.Ala1896Val)
|
rs139080716
|
0.00001
|
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser)
|
rs367594144
|
0.00001
|
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu)
|
rs750475467
|
0.00001
|
NM_021098.3(CACNA1H):c.56C>G (p.Pro19Arg)
|
rs1196939283
|
0.00001
|
NM_021098.3(CACNA1H):c.5700C>A (p.Pro1900=)
|
rs546638839
|
0.00001
|
NM_021098.3(CACNA1H):c.5765C>T (p.Ser1922Phe)
|
rs919557968
|
0.00001
|
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)
|
rs756181994
|
0.00001
|
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met)
|
rs754166849
|
0.00001
|
NM_021098.3(CACNA1H):c.5787C>T (p.Asn1929=)
|
rs747958775
|
0.00001
|
NM_021098.3(CACNA1H):c.5788G>A (p.Asp1930Asn)
|
rs371573041
|
0.00001
|
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val)
|
rs59950911
|
0.00001
|
NM_021098.3(CACNA1H):c.5798T>C (p.Met1933Thr)
|
rs1175867441
|
0.00001
|
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)
|
rs769441475
|
0.00001
|
NM_021098.3(CACNA1H):c.5826G>A (p.Ala1942=)
|
rs750936189
|
0.00001
|
NM_021098.3(CACNA1H):c.5885T>G (p.Leu1962Trp)
|
rs772374857
|
0.00001
|
NM_021098.3(CACNA1H):c.5887+20G>A
|
rs759713896
|
0.00001
|
NM_021098.3(CACNA1H):c.5887+8A>G
|
rs1258785345
|
0.00001
|
NM_021098.3(CACNA1H):c.5888-9C>T
|
rs1970258800
|
0.00001
|
NM_021098.3(CACNA1H):c.5902G>C (p.Val1968Leu)
|
rs921830082
|
0.00001
|
NM_021098.3(CACNA1H):c.5916C>T (p.Pro1972=)
|
rs979429805
|
0.00001
|
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr)
|
rs1003957584
|
0.00001
|
NM_021098.3(CACNA1H):c.5934C>T (p.Ser1978=)
|
rs896695448
|
0.00001
|
NM_021098.3(CACNA1H):c.5940G>T (p.Gln1980His)
|
rs1312406661
|
0.00001
|
NM_021098.3(CACNA1H):c.5945C>T (p.Pro1982Leu)
|
rs1483742539
|
0.00001
|
NM_021098.3(CACNA1H):c.5952T>C (p.Ala1984=)
|
rs1472691681
|
0.00001
|
NM_021098.3(CACNA1H):c.5957C>T (p.Ser1986Leu)
|
rs1165393509
|
0.00001
|
NM_021098.3(CACNA1H):c.5973C>T (p.Ser1991=)
|
rs753397534
|
0.00001
|
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg)
|
rs1357838162
|
0.00001
|
NM_021098.3(CACNA1H):c.601G>A (p.Val201Met)
|
rs773312766
|
0.00001
|
NM_021098.3(CACNA1H):c.6027C>T (p.Leu2009=)
|
rs766357140
|
0.00001
|
NM_021098.3(CACNA1H):c.6044G>A (p.Arg2015Lys)
|
rs1450150367
|
0.00001
|
NM_021098.3(CACNA1H):c.6049-9C>T
|
rs770614313
|
0.00001
|
NM_021098.3(CACNA1H):c.6064G>A (p.Asp2022Asn)
|
rs372375376
|
0.00001
|
NM_021098.3(CACNA1H):c.6135G>A (p.Pro2045=)
|
rs762582199
|
0.00001
|
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg)
|
rs754154177
|
0.00001
|
NM_021098.3(CACNA1H):c.6158G>T (p.Gly2053Val)
|
rs1387716276
|
0.00001
|
NM_021098.3(CACNA1H):c.6191C>T (p.Pro2064Leu)
|
rs1199118621
|
0.00001
|
NM_021098.3(CACNA1H):c.6208C>T (p.Arg2070Cys)
|
rs758461760
|
0.00001
|
NM_021098.3(CACNA1H):c.6223G>A (p.Gly2075Arg)
|
rs541001877
|
0.00001
|
NM_021098.3(CACNA1H):c.622C>T (p.Arg208Cys)
|
rs758015873
|
0.00001
|
NM_021098.3(CACNA1H):c.6238T>A (p.Ser2080Thr)
|
rs761247671
|
0.00001
|
NM_021098.3(CACNA1H):c.6248C>T (p.Pro2083Leu)
|
rs759924732
|
0.00001
|
NM_021098.3(CACNA1H):c.6258A>G (p.Pro2086=)
|
rs781453065
|
0.00001
|
NM_021098.3(CACNA1H):c.625G>A (p.Ala209Thr)
|
rs570207081
|
0.00001
|
NM_021098.3(CACNA1H):c.6265G>C (p.Glu2089Gln)
|
rs942767507
|
0.00001
|
NM_021098.3(CACNA1H):c.6271G>T (p.Ala2091Ser)
|
rs749106645
|
0.00001
|
NM_021098.3(CACNA1H):c.6274G>A (p.Glu2092Lys)
|
rs778743259
|
0.00001
|
NM_021098.3(CACNA1H):c.6282G>A (p.Ser2094=)
|
rs770576341
|
0.00001
|
NM_021098.3(CACNA1H):c.6291C>T (p.Ala2097=)
|
rs372174504
|
0.00001
|
NM_021098.3(CACNA1H):c.6294C>T (p.Asp2098=)
|
rs764545961
|
0.00001
|
NM_021098.3(CACNA1H):c.6314C>T (p.Thr2105Ile)
|
rs756344458
|
0.00001
|
NM_021098.3(CACNA1H):c.6323C>T (p.Ala2108Val)
|
rs778892614
|
0.00001
|
NM_021098.3(CACNA1H):c.6327C>T (p.Cys2109=)
|
rs777082647
|
0.00001
|
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala)
|
rs1025586071
|
0.00001
|
NM_021098.3(CACNA1H):c.6341C>T (p.Thr2114Ile)
|
rs774915687
|
0.00001
|
NM_021098.3(CACNA1H):c.6358C>A (p.Pro2120Thr)
|
rs1225788473
|
0.00001
|
NM_021098.3(CACNA1H):c.636C>T (p.Arg212=)
|
rs748157994
|
0.00001
|
NM_021098.3(CACNA1H):c.6371C>T (p.Pro2124Leu)
|
rs372453886
|
0.00001
|
NM_021098.3(CACNA1H):c.6372G>A (p.Pro2124=)
|
rs756801348
|
0.00001
|
NM_021098.3(CACNA1H):c.6375G>C (p.Val2125=)
|
rs964390335
|
0.00001
|
NM_021098.3(CACNA1H):c.6383G>A (p.Gly2128Asp)
|
rs772416042
|
0.00001
|
NM_021098.3(CACNA1H):c.6389G>A (p.Arg2130Gln)
|
rs776993441
|
0.00001
|
NM_021098.3(CACNA1H):c.6390G>A (p.Arg2130=)
|
rs1462959015
|
0.00001
|
NM_021098.3(CACNA1H):c.63C>T (p.Gly21=)
|
rs1261320353
|
0.00001
|
NM_021098.3(CACNA1H):c.6422A>G (p.Gln2141Arg)
|
rs772532983
|
0.00001
|
NM_021098.3(CACNA1H):c.643+10C>T
|
rs776343389
|
0.00001
|
NM_021098.3(CACNA1H):c.6441G>A (p.Pro2147=)
|
rs759684037
|
0.00001
|
NM_021098.3(CACNA1H):c.6459G>C (p.Gln2153His)
|
rs534707181
|
0.00001
|
NM_021098.3(CACNA1H):c.6470C>T (p.Ser2157Leu)
|
rs779547523
|
0.00001
|
NM_021098.3(CACNA1H):c.6474G>A (p.Ala2158=)
|
rs747394862
|
0.00001
|
NM_021098.3(CACNA1H):c.6480G>A (p.Leu2160=)
|
rs1555520987
|
0.00001
|
NM_021098.3(CACNA1H):c.6485G>T (p.Ser2162Ile)
|
rs745906833
|
0.00001
|
NM_021098.3(CACNA1H):c.6486C>T (p.Ser2162=)
|
rs113962757
|
0.00001
|
NM_021098.3(CACNA1H):c.6488G>C (p.Gly2163Ala)
|
rs1348390859
|
0.00001
|
NM_021098.3(CACNA1H):c.6492G>A (p.Glu2164=)
|
rs768879342
|
0.00001
|
NM_021098.3(CACNA1H):c.6495T>C (p.Pro2165=)
|
rs773249106
|
0.00001
|
NM_021098.3(CACNA1H):c.6511T>C (p.Trp2171Arg)
|
rs746446797
|
0.00001
|
NM_021098.3(CACNA1H):c.6534T>C (p.Ala2178=)
|
rs760596901
|
0.00001
|
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val)
|
rs776161185
|
0.00001
|
NM_021098.3(CACNA1H):c.6563G>A (p.Ser2188Asn)
|
rs898257627
|
0.00001
|
NM_021098.3(CACNA1H):c.6567C>T (p.Pro2189=)
|
rs1453508883
|
0.00001
|
NM_021098.3(CACNA1H):c.6589C>T (p.Pro2197Ser)
|
rs746807446
|
0.00001
|
NM_021098.3(CACNA1H):c.6601G>A (p.Glu2201Lys)
|
rs1456584884
|
0.00001
|
NM_021098.3(CACNA1H):c.6612G>A (p.Ala2204=)
|
rs757987443
|
0.00001
|
NM_021098.3(CACNA1H):c.6613C>T (p.Arg2205Trp)
|
rs760985703
|
0.00001
|
NM_021098.3(CACNA1H):c.6614G>T (p.Arg2205Leu)
|
rs967347672
|
0.00001
|
NM_021098.3(CACNA1H):c.6645A>G (p.Thr2215=)
|
rs1402669757
|
0.00001
|
NM_021098.3(CACNA1H):c.6668G>A (p.Cys2223Tyr)
|
rs1264293762
|
0.00001
|
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp)
|
rs764354954
|
0.00001
|
NM_021098.3(CACNA1H):c.6692C>A (p.Ser2231Tyr)
|
rs746267333
|
0.00001
|
NM_021098.3(CACNA1H):c.6694C>T (p.Leu2232=)
|
rs1366621639
|
0.00001
|
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg)
|
rs899655295
|
0.00001
|
NM_021098.3(CACNA1H):c.6714A>T (p.Ser2238=)
|
rs1970410954
|
0.00001
|
NM_021098.3(CACNA1H):c.6749G>A (p.Arg2250His)
|
rs554435610
|
0.00001
|
NM_021098.3(CACNA1H):c.6764C>T (p.Ser2255Phe)
|
rs746214213
|
0.00001
|
NM_021098.3(CACNA1H):c.6768C>T (p.Cys2256=)
|
rs902663333
|
0.00001
|
NM_021098.3(CACNA1H):c.6771G>T (p.Arg2257=)
|
rs763302946
|
0.00001
|
NM_021098.3(CACNA1H):c.6783G>C (p.Leu2261=)
|
rs1176114621
|
0.00001
|
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)
|
rs750732485
|
0.00001
|
NM_021098.3(CACNA1H):c.678G>A (p.Thr226=)
|
rs367793790
|
0.00001
|
NM_021098.3(CACNA1H):c.6804T>G (p.Phe2268Leu)
|
rs766207096
|
0.00001
|
NM_021098.3(CACNA1H):c.6819C>T (p.Leu2273=)
|
rs746731481
|
0.00001
|
NM_021098.3(CACNA1H):c.681G>T (p.Leu227=)
|
rs760361360
|
0.00001
|
NM_021098.3(CACNA1H):c.6846G>A (p.Leu2282=)
|
rs58394025
|
0.00001
|
NM_021098.3(CACNA1H):c.6868C>G (p.Pro2290Ala)
|
rs1970426309
|
0.00001
|
NM_021098.3(CACNA1H):c.6892G>C (p.Gly2298Arg)
|
rs771028729
|
0.00001
|
NM_021098.3(CACNA1H):c.6928C>T (p.Pro2310Ser)
|
rs778466215
|
0.00001
|
NM_021098.3(CACNA1H):c.6965G>A (p.Arg2322Gln)
|
rs1468102052
|
0.00001
|
NM_021098.3(CACNA1H):c.6991T>C (p.Cys2331Arg)
|
rs753077813
|
0.00001
|
NM_021098.3(CACNA1H):c.6C>T (p.Thr2=)
|
rs993061665
|
0.00001
|
NM_021098.3(CACNA1H):c.7000G>C (p.Glu2334Gln)
|
rs1203994251
|
0.00001
|
NM_021098.3(CACNA1H):c.7002G>A (p.Glu2334=)
|
rs1006975748
|
0.00001
|
NM_021098.3(CACNA1H):c.7019C>T (p.Ser2340Leu)
|
rs1466647338
|
0.00001
|
NM_021098.3(CACNA1H):c.7043G>A (p.Gly2348Asp)
|
rs1201268826
|
0.00001
|
NM_021098.3(CACNA1H):c.7049A>T (p.Asp2350Val)
|
rs1418372954
|
0.00001
|
NM_021098.3(CACNA1H):c.7058T>A (p.Val2353Glu)
|
rs990512900
|
0.00001
|
NM_021098.3(CACNA1H):c.714C>T (p.Phe238=)
|
rs748186171
|
0.00001
|
NM_021098.3(CACNA1H):c.727A>G (p.Ile243Val)
|
rs776274017
|
0.00001
|
NM_021098.3(CACNA1H):c.733G>A (p.Gly245Ser)
|
rs774687054
|
0.00001
|
NM_021098.3(CACNA1H):c.738C>T (p.Ile246=)
|
rs762427859
|
0.00001
|
NM_021098.3(CACNA1H):c.741T>C (p.Val247=)
|
rs952784900
|
0.00001
|
NM_021098.3(CACNA1H):c.759T>C (p.Ala253=)
|
rs1425714661
|
0.00001
|
NM_021098.3(CACNA1H):c.784C>T (p.Leu262=)
|
rs770443592
|
0.00001
|
NM_021098.3(CACNA1H):c.803+19C>T
|
rs538938996
|
0.00001
|
NM_021098.3(CACNA1H):c.803+7del
|
rs1478115948
|
0.00001
|
NM_021098.3(CACNA1H):c.804-4C>T
|
rs905366458
|
0.00001
|
NM_021098.3(CACNA1H):c.806A>G (p.Asn269Ser)
|
rs751311855
|
0.00001
|
NM_021098.3(CACNA1H):c.818C>T (p.Thr273Ile)
|
rs1240507435
|
0.00001
|
NM_021098.3(CACNA1H):c.825G>A (p.Leu275=)
|
rs747311145
|
0.00001
|
NM_021098.3(CACNA1H):c.829C>T (p.Pro277Ser)
|
rs201911360
|
0.00001
|
NM_021098.3(CACNA1H):c.843G>A (p.Thr281=)
|
rs761655532
|
0.00001
|
NM_021098.3(CACNA1H):c.844G>A (p.Glu282Lys)
|
rs119454948
|
0.00001
|
NM_021098.3(CACNA1H):c.853G>A (p.Glu285Lys)
|
rs773167797
|
0.00001
|
NM_021098.3(CACNA1H):c.868A>G (p.Ile290Val)
|
rs200009613
|
0.00001
|
NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe)
|
rs1443348691
|
0.00001
|
NM_021098.3(CACNA1H):c.874T>A (p.Ser292Thr)
|
rs1967689942
|
0.00001
|
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)
|
rs749305814
|
0.00001
|
NM_021098.3(CACNA1H):c.909G>A (p.Ser303=)
|
rs771877421
|
0.00001
|
NM_021098.3(CACNA1H):c.927C>T (p.Arg309=)
|
rs57740463
|
0.00001
|
NM_021098.3(CACNA1H):c.928G>A (p.Glu310Lys)
|
rs758039020
|
0.00001
|
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile)
|
rs997846742
|
0.00001
|
NM_021098.3(CACNA1H):c.954C>G (p.Gly318=)
|
rs1330712942
|
0.00001
|
NM_021098.3(CACNA1H):c.969G>A (p.Thr323=)
|
rs564108356
|
0.00001
|
NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu)
|
rs375274586
|
0.00001
|
NM_021098.3(CACNA1H):c.97C>T (p.Pro33Ser)
|
rs1163327322
|
0.00001
|
NM_021098.3(CACNA1H):c.992G>A (p.Gly331Asp)
|
rs747326278
|
0.00001
|
NM_021098.3(CACNA1H):c.99C>G (p.Pro33=)
|
rs778266598
|
0.00001
|
NM_145893.3(RBFOX1):c.25C>T (p.Leu9=)
|
rs1347157111
|
0.00001
|
NM_145893.3(RBFOX1):c.35A>T (p.Tyr12Phe)
|
rs759616730
|
0.00001
|
NM_145893.3(RBFOX1):c.39C>T (p.Gly13=)
|
rs757066841
|
0.00001
|
NM_145893.3(RBFOX1):c.55C>T (p.Pro19Ser)
|
rs773668882
|
0.00001
|
NM_145893.3(RBFOX1):c.61G>T (p.Ala21Ser)
|
rs1325337150
|
0.00001
|
NM_145893.3(RBFOX1):c.74C>T (p.Pro25Leu)
|
rs998828744
|
0.00001
|
NM_145893.3(RBFOX1):c.977G>T (p.Gly326Val)
|
rs767345247
|
0.00001
|
NM_145893.3(RBFOX1):c.983A>G (p.Lys328Arg)
|
rs1287710352
|
0.00001
|
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr)
|
rs398123523
|
0.00001
|
NM_198904.4(GABRG2):c.1002G>A (p.Ala334=)
|
rs371601817
|
0.00001
|
NM_198904.4(GABRG2):c.1014T>C (p.Phe338=)
|
rs1057521488
|
0.00001
|
NM_198904.4(GABRG2):c.107+10G>A
|
rs369898285
|
0.00001
|
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr)
|
rs1415854808
|
0.00001
|
NM_198904.4(GABRG2):c.1110T>C (p.Asp370=)
|
rs201824364
|
0.00001
|
NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu)
|
rs1164039510
|
0.00001
|
NM_198904.4(GABRG2):c.1128+14T>C
|
rs779125212
|
0.00001
|
NM_198904.4(GABRG2):c.1128+9C>T
|
rs771223451
|
0.00001
|
NM_198904.4(GABRG2):c.1156C>T (p.Pro386Ser)
|
rs757311213
|
0.00001
|
NM_198904.4(GABRG2):c.1158T>C (p.Pro386=)
|
rs1406802023
|
0.00001
|
NM_198904.4(GABRG2):c.1170C>A (p.Ile390=)
|
rs1312081444
|
0.00001
|
NM_198904.4(GABRG2):c.1171C>T (p.Arg391Cys)
|
rs768576864
|
0.00001
|
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His)
|
rs528036202
|
0.00001
|
NM_198904.4(GABRG2):c.1179A>T (p.Arg393Ser)
|
rs770952397
|
0.00001
|
NM_198904.4(GABRG2):c.1182A>G (p.Ser394=)
|
rs1458041410
|
0.00001
|
NM_198904.4(GABRG2):c.1195A>G (p.Met399Val)
|
rs753097258
|
0.00001
|
NM_198904.4(GABRG2):c.1202A>T (p.Asn401Ile)
|
rs778999273
|
0.00001
|
NM_198904.4(GABRG2):c.1208C>T (p.Thr403Ile)
|
rs1765495907
|
0.00001
|
NM_198904.4(GABRG2):c.1273T>G (p.Phe425Val)
|
rs780991820
|
0.00001
|
NM_198904.4(GABRG2):c.1284T>C (p.Cys428=)
|
rs141138508
|
0.00001
|
NM_198904.4(GABRG2):c.1298G>A (p.Arg433Gln)
|
rs774474550
|
0.00001
|
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His)
|
rs587780341
|
0.00001
|
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=)
|
rs765904792
|
0.00001
|
NM_198904.4(GABRG2):c.1413C>T (p.Ser471=)
|
rs765926862
|
0.00001
|
NM_198904.4(GABRG2):c.173C>A (p.Thr58Asn)
|
rs763218917
|
0.00001
|
NM_198904.4(GABRG2):c.17T>C (p.Ile6Thr)
|
rs759392289
|
0.00001
|
NM_198904.4(GABRG2):c.191G>A (p.Gly64Asp)
|
rs1408343754
|
0.00001
|
NM_198904.4(GABRG2):c.260-14G>A
|
rs1266683191
|
0.00001
|
NM_198904.4(GABRG2):c.270G>A (p.Thr90=)
|
rs758084555
|
0.00001
|
NM_198904.4(GABRG2):c.333C>T (p.Tyr111=)
|
rs777192588
|
0.00001
|
NM_198904.4(GABRG2):c.359C>T (p.Thr120Met)
|
rs1194128280
|
0.00001
|
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser)
|
rs754884716
|
0.00001
|
NM_198904.4(GABRG2):c.375T>A (p.Arg125=)
|
rs767423340
|
0.00001
|
NM_198904.4(GABRG2):c.37G>A (p.Val13Ile)
|
rs796052502
|
0.00001
|
NM_198904.4(GABRG2):c.420C>T (p.Asn140=)
|
rs1581350860
|
0.00001
|
NM_198904.4(GABRG2):c.470A>C (p.Lys157Thr)
|
rs770364855
|
0.00001
|
NM_198904.4(GABRG2):c.505A>T (p.Met169Leu)
|
rs1369739056
|
0.00001
|
NM_198904.4(GABRG2):c.525T>C (p.Asp175=)
|
rs770485021
|
0.00001
|
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln)
|
rs1445637165
|
0.00001
|
NM_198904.4(GABRG2):c.552G>A (p.Leu184=)
|
rs758574181
|
0.00001
|
NM_198904.4(GABRG2):c.571C>T (p.Gln191Ter)
|
rs1334776746
|
0.00001
|
NM_198904.4(GABRG2):c.644G>A (p.Arg215His)
|
rs1561645172
|
0.00001
|
NM_198904.4(GABRG2):c.683A>C (p.Glu228Ala)
|
rs903838076
|
0.00001
|
NM_198904.4(GABRG2):c.75G>A (p.Val25=)
|
rs1452669998
|
0.00001
|
NM_198904.4(GABRG2):c.769+10A>G
|
rs765703079
|
0.00001
|
NM_198904.4(GABRG2):c.769+12T>G
|
rs1761627675
|
0.00001
|
NM_198904.4(GABRG2):c.770-7G>A
|
rs751069405
|
0.00001
|
NM_198904.4(GABRG2):c.780G>A (p.Val260=)
|
rs1426450541
|
0.00001
|
NM_198904.4(GABRG2):c.789T>G (p.Ser263=)
|
rs754514348
|
0.00001
|
NM_198904.4(GABRG2):c.79A>G (p.Ile27Val)
|
rs766990192
|
0.00001
|
NM_198904.4(GABRG2):c.808A>C (p.Arg270=)
|
rs796052520
|
0.00001
|
NM_198904.4(GABRG2):c.985G>T (p.Val329Phe)
|
rs768061156
|
0.00001
|
NM_198904.4(GABRG2):c.987C>A (p.Val329=)
|
rs774964109
|
0.00001
|
NM_198904.4(GABRG2):c.99C>T (p.Leu33=)
|
rs368162707
|
0.00001
|
NC_000001.10:g.(?_1249188)_(1961741_?)del
|
|
|
NC_000001.10:g.(?_1724664)_(2338414_?)dup
|
|
|
NC_000001.10:g.(?_1950843)_(1961741_?)dup
|
|
|
NC_000001.11:g.(?_2019404)_(2030302_?)del
|
|
|
NC_000001.11:g.(?_2024922)_(2030302_?)dup
|
|
|
NC_000002.11:g.(?_152466313)_(152698612_?)dup
|
|
|
NC_000002.11:g.(?_152695633)_(152739904_?)del
|
|
|
NC_000002.12:g.(?_151839099)_(151973733_?)del
|
|
|
NC_000005.10:g.(?_162066642)_(162156539_?)del
|
|
|
NC_000005.10:g.(?_162067980)_(162068126_?)del
|
|
|
NC_000005.10:g.(?_162101215)_(162104046_?)del
|
|
|
NC_000005.10:g.(?_162101225)_(162153368_?)del
|
|
|
NC_000005.10:g.(?_162142144)_(162153388_?)del
|
|
|
NC_000005.9:g.(?_160721068)_(161528343_?)del
|
|
|
NC_000005.9:g.(?_160721088)_(161524884_?)dup
|
|
|
NC_000005.9:g.(?_161112996)_(161324428_?)dup
|
|
|
NC_000005.9:g.(?_161128494)_(161580374_?)del
|
|
|
NC_000005.9:g.(?_161277817)_(161580374_?)del
|
|
|
NC_000005.9:g.(?_161292707)_(161495132_?)del
|
|
|
NC_000005.9:g.(?_161309544)_(161309727_?)del
|
|
|
NC_000005.9:g.(?_161381199)_(161531016_?)del
|
|
|
NC_000005.9:g.(?_161495006)_(161495132_?)del
|
|
|
NC_000005.9:g.(?_161495006)_(161528343_?)del
|
|
|
NC_000005.9:g.(?_161495006)_(161531052_?)del
|
|
|
NC_000005.9:g.(?_161495006)_(161569342_?)del
|
|
|
NC_000005.9:g.(?_161495006)_(161580374_?)del
|
|
|
NC_000005.9:g.(?_161495006)_(161580374_?)dup
|
|
|
NC_000005.9:g.(?_161520814)_(161531052_?)del
|
|
|
NC_000005.9:g.(?_161520814)_(161531052_?)dup
|
|
|
NC_000005.9:g.(?_161520814)_(161580374_?)del
|
|
|
NC_000005.9:g.(?_161528235)_(161580379_?)dup
|
|
|
NC_000005.9:g.(?_161528241)_(161582545_?)dup
|
|
|
NC_000005.9:g.(?_161530875)_(161580374_?)del
|
|
|
NC_000005.9:g.(?_161569150)_(161580374_?)del
|
|
|
NC_000006.11:g.(?_52329683)_(52334281_?)del
|
|
|
NC_000006.12:g.(?_52423789)_(52492432_?)del
|
|
|
NC_000006.12:g.(?_52479017)_(52492432_?)del
|
|
|
NC_000015.10:g.(?_25862297)_(26937328_?)del
|
|
|
NC_000015.10:g.(?_26547773)_(26775295_?)del
|
|
|
NC_000015.10:g.(?_26567561)_(26629023_?)del
|
|
|
NC_000015.10:g.26773704C>T
|
rs1060504683
|
|
NC_000015.10:g.26773790G>C
|
rs20317
|
|
NC_000015.9:g.(?_26107444)_(28230334_?)del
|
|
|
NC_000015.9:g.(?_26792920)_(27018162_?)dup
|
|
|
NC_000015.9:g.(?_26792920)_(27020442_?)dup
|
|
|
NC_000015.9:g.(?_26792940)_(26793301_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(26828581_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(26866701_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(26866701_?)dup
|
|
|
NC_000015.9:g.(?_26792940)_(27018109_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(27018109_?)dup
|
|
|
NC_000015.9:g.(?_26792940)_(27020442_?)del
|
|
|
NC_000015.9:g.(?_26792940)_(27020442_?)dup
|
|
|
NC_000015.9:g.(?_26792940)_(28544682_?)dup
|
|
|
NC_000015.9:g.(?_26866441)_(26866701_?)del
|
|
|
NC_000015.9:g.(?_26866441)_(27018109_?)dup
|
|
|
NC_000015.9:g.(?_27017529)_(27018109_?)del
|
|
|
NC_000015.9:g.(?_27017808)_(27020442_?)dup
|
|
|
NC_000016.10:g.(?_1194952)_(1221014_?)dup
|
|
|
NC_000016.10:g.(?_1214952)_(1221014_?)dup
|
|
|
NC_000016.10:g.(?_7653795)_(7664988_?)del
|
|
|
NC_000016.9:g.(?_1203738)_(1204056_?)del
|
|
|
NC_000016.9:g.(?_1203738)_(1204056_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1258241_?)dup
|
|
|
NC_000016.9:g.(?_1203738)_(1260155_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1246043_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1256309_?)dup
|
|
|
NC_000016.9:g.(?_1244952)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1244962)_(1260981_?)dup
|
|
|
NC_000016.9:g.(?_1244962)_(1270994_?)del
|
|
|
NC_000016.9:g.(?_1248595)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1248605)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1251643)_(1255285_?)del
|
|
|
NC_000016.9:g.(?_1264952)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_1269961)_(1270994_?)dup
|
|
|
NC_000016.9:g.(?_256302)_(1843653_?)del
|
|
|
NC_000016.9:g.(?_256302)_(4852572_?)dup
|
|
|
NC_000016.9:g.(?_339420)_(3767509_?)dup
|
|
|
NC_000016.9:g.(?_396128)_(1204056_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2153916_?)dup
|
|
|
NC_000016.9:g.(?_624055)_(2550979_?)dup
|
|
|
NC_000016.9:g.(?_7102053)_(7760767_?)dup
|
|
|
NC_000016.9:g.(?_7382983)_(7647453_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7568411_?)del
|
|
|
NC_000016.9:g.(?_7383003)_(7680705_?)del
|
|
|
NC_000016.9:g.(?_7383003)_(7680705_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7703969_?)dup
|
|
|
NC_000016.9:g.(?_7383003)_(7760747_?)dup
|
|
|
NC_000016.9:g.(?_7560981)_(7680705_?)dup
|
|
|
NC_000016.9:g.(?_7568129)_(7760747_?)dup
|
|
|
NC_000016.9:g.(?_7629759)_(7637322_?)dup
|
|
|
NC_000016.9:g.(?_7629759)_(7760747_?)del
|
|
|
NC_000016.9:g.(?_7647353)_(7657360_?)del
|
|
|
NC_000016.9:g.(?_765584)_(1204036_?)del
|
|
|
NC_000016.9:g.(?_7726832)_(7839608_?)del
|
|
|
NC_000017.10:g.(?_76109229)_(78367298_?)dup
|
|
|
NM_000726.5(CACNB4):c.1021-7C>T
|
rs2151353341
|
|
NM_000726.5(CACNB4):c.1033T>C (p.Leu345=)
|
rs529832815
|
|
NM_000726.5(CACNB4):c.1109G>C (p.Cys370Ser)
|
rs1306015107
|
|
NM_000726.5(CACNB4):c.1146T>C (p.Asn382=)
|
rs927678994
|
|
NM_000726.5(CACNB4):c.1191G>A (p.Ala397=)
|
rs369276166
|
|
NM_000726.5(CACNB4):c.1198C>T (p.Arg400Cys)
|
rs1060503174
|
|
NM_000726.5(CACNB4):c.1309C>T (p.Arg437Ter)
|
rs529888359
|
|
NM_000726.5(CACNB4):c.1445G>A (p.Arg482Gln)
|
rs1277708441
|
|
NM_000726.5(CACNB4):c.1467AGA[1] (p.Glu490del)
|
rs764343188
|
|
NM_000726.5(CACNB4):c.147+3A>G
|
rs768976112
|
|
NM_000726.5(CACNB4):c.1509T>C (p.His503=)
|
rs1060503173
|
|
NM_000726.5(CACNB4):c.1514A>G (p.Asn505Ser)
|
rs2099835534
|
|
NM_000726.5(CACNB4):c.222A>T (p.Arg74=)
|
rs553682728
|
|
NM_000726.5(CACNB4):c.311G>A (p.Cys104Tyr)
|
rs1805031
|
|
NM_000726.5(CACNB4):c.356C>T (p.Ser119Phe)
|
rs1367982719
|
|
NM_000726.5(CACNB4):c.391-9G>A
|
rs1342246691
|
|
NM_000726.5(CACNB4):c.40G>A (p.Gly14Arg)
|
rs573977862
|
|
NM_000726.5(CACNB4):c.40G>C (p.Gly14Arg)
|
rs573977862
|
|
NM_000726.5(CACNB4):c.45G>A (p.Pro15=)
|
rs536646578
|
|
NM_000726.5(CACNB4):c.465C>T (p.Leu155=)
|
rs2151429916
|
|
NM_000726.5(CACNB4):c.52C>T (p.Pro18Ser)
|
rs1304319164
|
|
NM_000726.5(CACNB4):c.537TTC[2] (p.Ser183del)
|
rs1057518634
|
|
NM_000726.5(CACNB4):c.582A>T (p.Ala194=)
|
rs776968687
|
|
NM_000726.5(CACNB4):c.598+9T>G
|
rs1578558910
|
|
NM_000726.5(CACNB4):c.616G>T (p.Val206Leu)
|
rs1260619468
|
|
NM_000726.5(CACNB4):c.618+4A>C
|
rs2099844445
|
|
NM_000726.5(CACNB4):c.628A>G (p.Ile210Val)
|
rs2099844376
|
|
NM_000726.5(CACNB4):c.699+6A>G
|
rs1454032027
|
|
NM_000726.5(CACNB4):c.757A>G (p.Arg253Gly)
|
rs2151401327
|
|
NM_000726.5(CACNB4):c.770C>T (p.Thr257Met)
|
rs1553749683
|
|
NM_000726.5(CACNB4):c.780A>C (p.Thr260=)
|
rs2151376464
|
|
NM_000726.5(CACNB4):c.967A>G (p.Ile323Val)
|
rs1559871505
|
|
NM_000811.3(GABRA6):c.1005C>G (p.Ala335=)
|
rs13184586
|
|
NM_000811.3(GABRA6):c.1344C>G (p.Val448=)
|
rs4277944
|
|
NM_000811.3(GABRA6):c.371C>G (p.Ser124Cys)
|
rs1554115593
|
|
NM_000811.3(GABRA6):c.507T>C (p.Ala169=)
|
rs1400096249
|
|
NM_000811.3(GABRA6):c.663A>G (p.Lys221=)
|
rs200968260
|
|
NM_000811.3(GABRA6):c.847A>G (p.Met283Val)
|
rs1554115829
|
|
NM_000814.5(GABRB3):c.-114_*4247del
|
|
|
NM_000814.6(GABRB3):c.1005C>G (p.Gly335=)
|
rs74907974
|
|
NM_000814.6(GABRB3):c.1005C>T (p.Gly335=)
|
rs74907974
|
|
NM_000814.6(GABRB3):c.1021A>C (p.Lys341Gln)
|
rs761102474
|
|
NM_000814.6(GABRB3):c.1023G>T (p.Lys341Asn)
|
|
|
NM_000814.6(GABRB3):c.1030G>A (p.Glu344Lys)
|
|
|
NM_000814.6(GABRB3):c.1039G>C (p.Ala347Pro)
|
rs1365439059
|
|
NM_000814.6(GABRB3):c.1052A>G (p.Asn351Ser)
|
rs763319754
|
|
NM_000814.6(GABRB3):c.1054del (p.Asp352fs)
|
rs1889959221
|
|
NM_000814.6(GABRB3):c.1070A>C (p.Glu357Ala)
|
|
|
NM_000814.6(GABRB3):c.1080+14_1080+15inv
|
|
|
NM_000814.6(GABRB3):c.1080+3A>G
|
rs1889957496
|
|
NM_000814.6(GABRB3):c.1080+7T>C
|
|
|
NM_000814.6(GABRB3):c.1081-10G>T
|
|
|
NM_000814.6(GABRB3):c.1081-13del
|
rs755203442
|
|
NM_000814.6(GABRB3):c.1081-5A>G
|
|
|
NM_000814.6(GABRB3):c.1081G>A (p.Val361Met)
|
rs1889329356
|
|
NM_000814.6(GABRB3):c.1086T>C (p.Asp362=)
|
|
|
NM_000814.6(GABRB3):c.1090C>T (p.His364Tyr)
|
|
|
NM_000814.6(GABRB3):c.1097A>G (p.Asn366Ser)
|
rs759847671
|
|
NM_000814.6(GABRB3):c.1099A>G (p.Ile367Val)
|
|
|
NM_000814.6(GABRB3):c.1100T>C (p.Ile367Thr)
|
|
|
NM_000814.6(GABRB3):c.1101T>A (p.Ile367=)
|
rs2140645991
|
|
NM_000814.6(GABRB3):c.1105T>G (p.Leu369Val)
|
|
|
NM_000814.6(GABRB3):c.1111T>G (p.Ser371Ala)
|
|
|
NM_000814.6(GABRB3):c.1115T>G (p.Leu372Arg)
|
|
|
NM_000814.6(GABRB3):c.1116G>T (p.Leu372=)
|
|
|
NM_000814.6(GABRB3):c.1117G>A (p.Glu373Lys)
|
|
|
NM_000814.6(GABRB3):c.1127A>C (p.Asn376Thr)
|
rs756866953
|
|
NM_000814.6(GABRB3):c.1136A>G (p.Asn379Ser)
|
|
|
NM_000814.6(GABRB3):c.1140G>A (p.Glu380=)
|
|
|
NM_000814.6(GABRB3):c.1146A>G (p.Ser382=)
|
rs2140645804
|
|
NM_000814.6(GABRB3):c.1148G>A (p.Gly383Asp)
|
rs1567090411
|
|
NM_000814.6(GABRB3):c.1151G>T (p.Gly384Val)
|
|
|
NM_000814.6(GABRB3):c.1167G>A (p.Arg389=)
|
|
|
NM_000814.6(GABRB3):c.1177A>G (p.Ile393Val)
|
|
|
NM_000814.6(GABRB3):c.1178T>C (p.Ile393Thr)
|
|
|
NM_000814.6(GABRB3):c.1182del (p.Phe395fs)
|
rs2140645684
|
|
NM_000814.6(GABRB3):c.1185T>C (p.Phe395=)
|
|
|
NM_000814.6(GABRB3):c.118A>G (p.Thr40Ala)
|
|
|
NM_000814.6(GABRB3):c.1192T>A (p.Ser398Thr)
|
|
|
NM_000814.6(GABRB3):c.1194A>T (p.Ser398=)
|
|
|
NM_000814.6(GABRB3):c.119C>T (p.Thr40Met)
|
rs1178513934
|
|
NM_000814.6(GABRB3):c.11T>G (p.Leu4Arg)
|
|
|
NM_000814.6(GABRB3):c.1211A>T (p.Lys404Ile)
|
rs2140645593
|
|
NM_000814.6(GABRB3):c.1216_1217del (p.Ser406fs)
|
|
|
NM_000814.6(GABRB3):c.1219A>G (p.Met407Val)
|
|
|
NM_000814.6(GABRB3):c.1225C>T (p.Arg409Ter)
|
rs1555400368
|
|
NM_000814.6(GABRB3):c.1240C>T (p.Arg414Ter)
|
rs536564598
|
|
NM_000814.6(GABRB3):c.1245C>T (p.Phe415=)
|
|
|
NM_000814.6(GABRB3):c.1248G>C (p.Leu416=)
|
|
|
NM_000814.6(GABRB3):c.1250G>A (p.Gly417Glu)
|
rs1889319677
|
|
NM_000814.6(GABRB3):c.1261C>T (p.Leu421Phe)
|
|
|
NM_000814.6(GABRB3):c.1276A>C (p.Thr426Pro)
|
|
|
NM_000814.6(GABRB3):c.1285C>T (p.Arg429Trp)
|
|
|
NM_000814.6(GABRB3):c.1296T>C (p.Ser432=)
|
|
|
NM_000814.6(GABRB3):c.1302G>C (p.Gln434His)
|
|
|
NM_000814.6(GABRB3):c.1303C>G (p.Leu435Val)
|
|
|
NM_000814.6(GABRB3):c.1305C>G (p.Leu435=)
|
|
|
NM_000814.6(GABRB3):c.1307A>C (p.Lys436Thr)
|
rs2140645254
|
|
NM_000814.6(GABRB3):c.1320T>C (p.Pro440=)
|
|
|
NM_000814.6(GABRB3):c.1321dup (p.Asp441fs)
|
rs2140645222
|
|
NM_000814.6(GABRB3):c.1332T>C (p.Asp444=)
|
|
|
NM_000814.6(GABRB3):c.1344A>C (p.Ile448=)
|
|
|
NM_000814.6(GABRB3):c.1348A>T (p.Arg450Ter)
|
rs2140645141
|
|
NM_000814.6(GABRB3):c.1350A>G (p.Arg450=)
|
|
|
NM_000814.6(GABRB3):c.1362C>G (p.Ile454Met)
|
rs745449592
|
|
NM_000814.6(GABRB3):c.1368del (p.Pro457fs)
|
|
|
NM_000814.6(GABRB3):c.1384C>G (p.Leu462Val)
|
|
|
NM_000814.6(GABRB3):c.1399T>C (p.Tyr467His)
|
rs1889312439
|
|
NM_000814.6(GABRB3):c.1400A>C (p.Tyr467Ser)
|
|
|
NM_000814.6(GABRB3):c.1410C>T (p.Tyr470=)
|
|
|
NM_000814.6(GABRB3):c.1414_1416del (p.Val472del)
|
|
|
NM_000814.6(GABRB3):c.1419C>G (p.Asn473Lys)
|
|
|
NM_000814.6(GABRB3):c.143A>G (p.Tyr48Cys)
|
rs2140199598
|
|
NM_000814.6(GABRB3):c.144C>T (p.Tyr48=)
|
rs868652432
|
|
NM_000814.6(GABRB3):c.145G>A (p.Asp49Asn)
|
|
|
NM_000814.6(GABRB3):c.147C>G (p.Asp49Glu)
|
rs557694936
|
|
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
|
|
|
NM_000814.6(GABRB3):c.154C>T (p.Leu52=)
|
rs1057524415
|
|
NM_000814.6(GABRB3):c.156A>G (p.Leu52=)
|
|
|
NM_000814.6(GABRB3):c.15G>A (p.Ala5=)
|
|
|
NM_000814.6(GABRB3):c.15G>C (p.Ala5=)
|
|
|
NM_000814.6(GABRB3):c.160C>T (p.Pro54Ser)
|
|
|
NM_000814.6(GABRB3):c.167T>C (p.Phe56Ser)
|
rs1891185887
|
|
NM_000814.6(GABRB3):c.169G>C (p.Gly57Arg)
|
rs1891185775
|
|
NM_000814.6(GABRB3):c.172+18G>A
|
|
|
NM_000814.6(GABRB3):c.172+19G>A
|
|
|
NM_000814.6(GABRB3):c.172+1del
|
rs1891185645
|
|
NM_000814.6(GABRB3):c.172+3_172+6del
|
rs2140199548
|
|
NM_000814.6(GABRB3):c.172+6T>C
|
|
|
NM_000814.6(GABRB3):c.172+7G>C
|
rs1207655554
|
|
NM_000814.6(GABRB3):c.172+9G>C
|
|
|
NM_000814.6(GABRB3):c.173-10C>T
|
|
|
NM_000814.6(GABRB3):c.173-15C>T
|
rs760478130
|
|
NM_000814.6(GABRB3):c.173-18G>A
|
|
|
NM_000814.6(GABRB3):c.173-4G>T
|
|
|
NM_000814.6(GABRB3):c.173-7C>G
|
|
|
NM_000814.6(GABRB3):c.173G>T (p.Gly58Val)
|
|
|
NM_000814.6(GABRB3):c.175C>T (p.Pro59Ser)
|
rs1555383878
|
|
NM_000814.6(GABRB3):c.184T>G (p.Cys62Gly)
|
rs1595363628
|
|
NM_000814.6(GABRB3):c.190G>C (p.Gly64Arg)
|
rs2140199113
|
|
NM_000814.6(GABRB3):c.191G>A (p.Gly64Glu)
|
rs1891175434
|
|
NM_000814.6(GABRB3):c.192G>C (p.Gly64=)
|
rs1215093816
|
|
NM_000814.6(GABRB3):c.201C>T (p.Ile67=)
|
|
|
NM_000814.6(GABRB3):c.207C>A (p.Ile69=)
|
rs770214111
|
|
NM_000814.6(GABRB3):c.219C>T (p.Asp73=)
|
|
|
NM_000814.6(GABRB3):c.227C>T (p.Ser76Phe)
|
|
|
NM_000814.6(GABRB3):c.228C>T (p.Ser76=)
|
|
|
NM_000814.6(GABRB3):c.231A>T (p.Glu77Asp)
|
|
|
NM_000814.6(GABRB3):c.233T>A (p.Val78Asp)
|
|
|
NM_000814.6(GABRB3):c.238A>C (p.Met80Leu)
|
|
|
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr)
|
rs1064794797
|
|
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg)
|
rs1064794797
|
|
NM_000814.6(GABRB3):c.240+10C>T
|
|
|
NM_000814.6(GABRB3):c.240+12_240+13delinsGT
|
rs2140199003
|
|
NM_000814.6(GABRB3):c.240+13C>A
|
|
|
NM_000814.6(GABRB3):c.240+18C>T
|
|
|
NM_000814.6(GABRB3):c.240+19A>G
|
|
|
NM_000814.6(GABRB3):c.240+5G>C
|
|
|
NM_000814.6(GABRB3):c.240+7G>T
|
|
|
NM_000814.6(GABRB3):c.240G>A (p.Met80Ile)
|
rs2140199021
|
|
NM_000814.6(GABRB3):c.241-12T>C
|
rs546175770
|
|
NM_000814.6(GABRB3):c.241-14del
|
|
|
NM_000814.6(GABRB3):c.241-18C>G
|
|
|
NM_000814.6(GABRB3):c.241-1G>A
|
|
|
NM_000814.6(GABRB3):c.241-3del
|
rs760251280
|
|
NM_000814.6(GABRB3):c.241-3dup
|
rs760251280
|
|
NM_000814.6(GABRB3):c.241-7C>T
|
rs1595490139
|
|
NM_000814.6(GABRB3):c.245A>C (p.Tyr82Ser)
|
rs1892483792
|
|
NM_000814.6(GABRB3):c.245A>G (p.Tyr82Cys)
|
rs1892483792
|
|
NM_000814.6(GABRB3):c.25C>A (p.Leu9Ile)
|
|
|
NM_000814.6(GABRB3):c.267A>G (p.Gln89=)
|
rs1892482774
|
|
NM_000814.6(GABRB3):c.26T>C (p.Leu9Pro)
|
|
|
NM_000814.6(GABRB3):c.270A>G (p.Gln90=)
|
|
|
NM_000814.6(GABRB3):c.273T>C (p.Tyr91=)
|
|
|
NM_000814.6(GABRB3):c.282T>G (p.Asp94Glu)
|
rs2140537278
|
|
NM_000814.6(GABRB3):c.288G>T (p.Arg96Ser)
|
rs2140537271
|
|
NM_000814.6(GABRB3):c.296A>G (p.Tyr99Cys)
|
rs1566778864
|
|
NM_000814.6(GABRB3):c.29T>A (p.Phe10Tyr)
|
|
|
NM_000814.6(GABRB3):c.300T>C (p.Ser100=)
|
rs975508044
|
|
NM_000814.6(GABRB3):c.303G>A (p.Gly101=)
|
|
|
NM_000814.6(GABRB3):c.308C>A (p.Pro103His)
|
rs1892480524
|
|
NM_000814.6(GABRB3):c.310C>T (p.Leu104Phe)
|
rs2140537193
|
|
NM_000814.6(GABRB3):c.311T>C (p.Leu104Pro)
|
rs2140537185
|
|
NM_000814.6(GABRB3):c.320C>T (p.Thr107Met)
|
rs1347499222
|
|
NM_000814.6(GABRB3):c.331C>T (p.Arg111Ter)
|
rs942355738
|
|
NM_000814.6(GABRB3):c.332G>A (p.Arg111Gln)
|
|
|
NM_000814.6(GABRB3):c.352G>A (p.Val118Met)
|
rs1281101862
|
|
NM_000814.6(GABRB3):c.358G>A (p.Asp120Asn)
|
rs886037938
|
|
NM_000814.6(GABRB3):c.366T>C (p.Tyr122=)
|
|
|
NM_000814.6(GABRB3):c.36C>T (p.Ile12=)
|
rs1049486764
|
|
NM_000814.6(GABRB3):c.372A>C (p.Leu124Phe)
|
rs1057519550
|
|
NM_000814.6(GABRB3):c.374del (p.Asn125fs)
|
rs2140536988
|
|
NM_000814.6(GABRB3):c.379A>G (p.Lys127Glu)
|
rs2140536974
|
|
NM_000814.6(GABRB3):c.380A>G (p.Lys127Arg)
|
rs1057519201
|
|
NM_000814.6(GABRB3):c.381A>G (p.Lys127=)
|
rs754026886
|
|
NM_000814.6(GABRB3):c.387A>G (p.Ser129=)
|
|
|
NM_000814.6(GABRB3):c.394C>T (p.His132Tyr)
|
rs1892476793
|
|
NM_000814.6(GABRB3):c.398_400dup (p.Gly133_Val134insGly)
|
|
|
NM_000814.6(GABRB3):c.405_406del (p.Val136fs)
|
rs2140536878
|
|
NM_000814.6(GABRB3):c.405del (p.Thr135_Val136insTer)
|
rs1892476410
|
|
NM_000814.6(GABRB3):c.40T>G (p.Ser14Ala)
|
|
|
NM_000814.6(GABRB3):c.413A>C (p.Asn138Thr)
|
rs1892475991
|
|
NM_000814.6(GABRB3):c.416G>A (p.Arg139His)
|
rs1197311612
|
|
NM_000814.6(GABRB3):c.416G>T (p.Arg139Leu)
|
|
|
NM_000814.6(GABRB3):c.418A>G (p.Met140Val)
|
rs1555371848
|
|
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys)
|
rs1892475061
|
|
NM_000814.6(GABRB3):c.428T>G (p.Leu143Arg)
|
rs1595489812
|
|
NM_000814.6(GABRB3):c.42G>C (p.Ser14=)
|
|
|
NM_000814.6(GABRB3):c.437A>C (p.Asp146Ala)
|
|
|
NM_000814.6(GABRB3):c.454G>A (p.Gly152Arg)
|
|
|
NM_000814.6(GABRB3):c.456G>A (p.Gly152=)
|
|
|
NM_000814.6(GABRB3):c.458T>C (p.Leu153Pro)
|
rs1892473840
|
|
NM_000814.6(GABRB3):c.459C>T (p.Leu153=)
|
rs2140536698
|
|
NM_000814.6(GABRB3):c.461+17A>G
|
|
|
NM_000814.6(GABRB3):c.461+19G>A
|
|
|
NM_000814.6(GABRB3):c.461+4T>A
|
|
|
NM_000814.6(GABRB3):c.461+5G>T
|
rs1892473626
|
|
NM_000814.6(GABRB3):c.462-13C>T
|
|
|
NM_000814.6(GABRB3):c.462-14C>T
|
rs1034382308
|
|
NM_000814.6(GABRB3):c.462-16A>G
|
|
|
NM_000814.6(GABRB3):c.462-6T>A
|
|
|
NM_000814.6(GABRB3):c.462-7A>G
|
rs1404162429
|
|
NM_000814.6(GABRB3):c.467C>A (p.Thr156Asn)
|
rs78196007
|
|
NM_000814.6(GABRB3):c.467C>T (p.Thr156Ile)
|
|
|
NM_000814.6(GABRB3):c.46C>T (p.Pro16Ser)
|
|
|
NM_000814.6(GABRB3):c.470C>T (p.Thr157Met)
|
rs2140737885
|
|
NM_000814.6(GABRB3):c.479C>T (p.Ala160Val)
|
rs1890858644
|
|
NM_000814.6(GABRB3):c.481T>A (p.Cys161Ser)
|
|
|
NM_000814.6(GABRB3):c.486G>C (p.Met162Ile)
|
rs2140737836
|
|
NM_000814.6(GABRB3):c.487A>G (p.Met163Val)
|
rs1060502666
|
|
NM_000814.6(GABRB3):c.48G>A (p.Pro16=)
|
|
|
NM_000814.6(GABRB3):c.498G>A (p.Arg166=)
|
|
|
NM_000814.6(GABRB3):c.504C>A (p.Tyr168Ter)
|
rs1060502665
|
|
NM_000814.6(GABRB3):c.506C>T (p.Pro169Leu)
|
rs1555368630
|
|
NM_000814.6(GABRB3):c.507C>A (p.Pro169=)
|
|
|
NM_000814.6(GABRB3):c.514G>C (p.Glu172Gln)
|
|
|
NM_000814.6(GABRB3):c.522C>G (p.Asn174Lys)
|
rs2140737726
|
|
NM_000814.6(GABRB3):c.525C>G (p.Cys175Trp)
|
|
|
NM_000814.6(GABRB3):c.526A>G (p.Thr176Ala)
|
|
|
NM_000814.6(GABRB3):c.53T>A (p.Leu18Gln)
|
rs2140199978
|
|
NM_000814.6(GABRB3):c.544+10C>T
|
rs372692704
|
|
NM_000814.6(GABRB3):c.544+11G>A
|
|
|
NM_000814.6(GABRB3):c.544+11G>T
|
|
|
NM_000814.6(GABRB3):c.544+12T>C
|
|
|
NM_000814.6(GABRB3):c.544+14T>G
|
|
|
NM_000814.6(GABRB3):c.544T>C (p.Tyr182His)
|
|
|
NM_000814.6(GABRB3):c.545-2A>G
|
|
|
NM_000814.6(GABRB3):c.545A>G (p.Tyr182Cys)
|
rs886037939
|
|
NM_000814.6(GABRB3):c.551A>G (p.Tyr184Cys)
|
|
|
NM_000814.6(GABRB3):c.553A>C (p.Thr185Pro)
|
rs1890748867
|
|
NM_000814.6(GABRB3):c.554C>T (p.Thr185Ile)
|
rs1131691481
|
|
NM_000814.6(GABRB3):c.55G>C (p.Val19Leu)
|
rs1891194798
|
|
NM_000814.6(GABRB3):c.563A>T (p.Asp188Val)
|
|
|
NM_000814.6(GABRB3):c.570G>A (p.Glu190=)
|
rs2140730701
|
|
NM_000814.6(GABRB3):c.580C>T (p.Arg194Ter)
|
rs1555368345
|
|
NM_000814.6(GABRB3):c.581G>A (p.Arg194Gln)
|
rs369581041
|
|
NM_000814.6(GABRB3):c.593A>C (p.Lys198Thr)
|
|
|
NM_000814.6(GABRB3):c.594G>A (p.Lys198=)
|
rs1381956789
|
|
NM_000814.6(GABRB3):c.59C>T (p.Ala20Val)
|
rs2140199975
|
|
NM_000814.6(GABRB3):c.600T>C (p.Val200=)
|
rs1595456673
|
|
NM_000814.6(GABRB3):c.609G>A (p.Val203=)
|
|
|
NM_000814.6(GABRB3):c.621G>A (p.Glu207=)
|
|
|
NM_000814.6(GABRB3):c.645G>A (p.Glu215=)
|
|
|
NM_000814.6(GABRB3):c.64G>T (p.Val22Leu)
|
|
|
NM_000814.6(GABRB3):c.659C>T (p.Ser220Leu)
|
|
|
NM_000814.6(GABRB3):c.662G>A (p.Arg221Lys)
|
|
|
NM_000814.6(GABRB3):c.666T>C (p.Asn222=)
|
|
|
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del)
|
rs2140730286
|
|
NM_000814.6(GABRB3):c.668T>A (p.Val223Asp)
|
rs2140730292
|
|
NM_000814.6(GABRB3):c.670G>T (p.Val224Phe)
|
|
|
NM_000814.6(GABRB3):c.673T>G (p.Phe225Val)
|
rs2140730279
|
|
NM_000814.6(GABRB3):c.679A>G (p.Thr227Ala)
|
rs1890741727
|
|
NM_000814.6(GABRB3):c.682+7C>T
|
rs2140730250
|
|
NM_000814.6(GABRB3):c.683-10T>G
|
|
|
NM_000814.6(GABRB3):c.683-11G>T
|
|
|
NM_000814.6(GABRB3):c.683-12T>C
|
|
|
NM_000814.6(GABRB3):c.683-14T>C
|
|
|
NM_000814.6(GABRB3):c.683-29_683-18del
|
|
|
NM_000814.6(GABRB3):c.683-3T>C
|
rs79917963
|
|
NM_000814.6(GABRB3):c.683-7C>T
|
|
|
NM_000814.6(GABRB3):c.683-9_683-8del
|
rs1890232405
|
|
NM_000814.6(GABRB3):c.689A>G (p.Tyr230Cys)
|
rs1890231872
|
|
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)
|
rs1595445975
|
|
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)
|
rs797045045
|
|
NM_000814.6(GABRB3):c.6G>A (p.Trp2Ter)
|
|
|
NM_000814.6(GABRB3):c.701C>T (p.Ser234Leu)
|
rs1567113254
|
|
NM_000814.6(GABRB3):c.719A>G (p.Lys240Arg)
|
|
|
NM_000814.6(GABRB3):c.732A>C (p.Gly244=)
|
rs1890229760
|
|
NM_000814.6(GABRB3):c.735C>T (p.Tyr245=)
|
|
|
NM_000814.6(GABRB3):c.73G>A (p.Ala25Thr)
|
rs1448726231
|
|
NM_000814.6(GABRB3):c.757C>A (p.Pro253Thr)
|
rs1890229008
|
|
NM_000814.6(GABRB3):c.758C>A (p.Pro253His)
|
rs1064796514
|
|
NM_000814.6(GABRB3):c.761C>A (p.Ser254Tyr)
|
rs1057519549
|
|
NM_000814.6(GABRB3):c.761C>T (p.Ser254Phe)
|
rs1057519549
|
|
NM_000814.6(GABRB3):c.778C>A (p.Leu260Met)
|
|
|
NM_000814.6(GABRB3):c.782_783delinsTA (p.Ser261Leu)
|
rs1890228050
|
|
NM_000814.6(GABRB3):c.799A>G (p.Ile267Val)
|
rs2140696625
|
|
NM_000814.6(GABRB3):c.80+10C>G
|
rs2140199945
|
|
NM_000814.6(GABRB3):c.80+11G>T
|
|
|
NM_000814.6(GABRB3):c.80+15G>A
|
|
|
NM_000814.6(GABRB3):c.80+7T>C
|
|
|
NM_000814.6(GABRB3):c.80+8C>A
|
|
|
NM_000814.6(GABRB3):c.804T>C (p.Asn268=)
|
|
|
NM_000814.6(GABRB3):c.804T>G (p.Asn268Lys)
|
|
|
NM_000814.6(GABRB3):c.81-15C>G
|
|
|
NM_000814.6(GABRB3):c.81-16C>G
|
|
|
NM_000814.6(GABRB3):c.81-19C>T
|
|
|
NM_000814.6(GABRB3):c.81-5C>G
|
rs201579427
|
|
NM_000814.6(GABRB3):c.81-7C>T
|
|
|
NM_000814.6(GABRB3):c.817G>A (p.Ala273Thr)
|
|
|
NM_000814.6(GABRB3):c.835+16A>G
|
|
|
NM_000814.6(GABRB3):c.835+20G>A
|
|
|
NM_000814.6(GABRB3):c.835+5G>T
|
rs374357218
|
|
NM_000814.6(GABRB3):c.835+6T>C
|
rs1890226391
|
|
NM_000814.6(GABRB3):c.835+7G>C
|
|
|
NM_000814.6(GABRB3):c.835G>A (p.Gly279Arg)
|
rs1890226806
|
|
NM_000814.6(GABRB3):c.836-10T>C
|
rs1595440495
|
|
NM_000814.6(GABRB3):c.836-19del
|
rs779616935
|
|
NM_000814.6(GABRB3):c.838A>T (p.Ile280Phe)
|
rs1057518036
|
|
NM_000814.6(GABRB3):c.845C>T (p.Thr282Ile)
|
|
|
NM_000814.6(GABRB3):c.850_852dup (p.Leu284dup)
|
rs2140680304
|
|
NM_000814.6(GABRB3):c.860C>T (p.Thr287Ile)
|
rs1595440448
|
|
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala)
|
rs1595440443
|
|
NM_000814.6(GABRB3):c.863C>T (p.Thr288Ile)
|
rs1555401440
|
|
NM_000814.6(GABRB3):c.866T>C (p.Ile289Thr)
|
|
|
NM_000814.6(GABRB3):c.866_904dup (p.Pro301_Tyr302insPheAsnThrHisLeuArgGluThrLeuProLysIlePro)
|
|
|
NM_000814.6(GABRB3):c.868A>C (p.Asn290His)
|
|
|
NM_000814.6(GABRB3):c.878T>C (p.Leu293Pro)
|
rs2140680258
|
|
NM_000814.6(GABRB3):c.87C>G (p.Asn29Lys)
|
rs772263479
|
|
NM_000814.6(GABRB3):c.881G>A (p.Arg294Gln)
|
|
|
NM_000814.6(GABRB3):c.885G>A (p.Glu295=)
|
rs749704431
|
|
NM_000814.6(GABRB3):c.892C>T (p.Pro298Ser)
|
|
|
NM_000814.6(GABRB3):c.895A>C (p.Lys299Gln)
|
rs1567106381
|
|
NM_000814.6(GABRB3):c.896A>G (p.Lys299Arg)
|
|
|
NM_000814.6(GABRB3):c.898A>G (p.Ile300Val)
|
rs1567106362
|
|
NM_000814.6(GABRB3):c.89A>C (p.Asp30Ala)
|
|
|
NM_000814.6(GABRB3):c.902C>T (p.Pro301Leu)
|
rs1889966534
|
|
NM_000814.6(GABRB3):c.905A>G (p.Tyr302Cys)
|
rs1889966424
|
|
NM_000814.6(GABRB3):c.910A>G (p.Lys304Glu)
|
rs1555401426
|
|
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)
|
rs1889966043
|
|
NM_000814.6(GABRB3):c.915C>T (p.Ala305=)
|
rs1889965667
|
|
NM_000814.6(GABRB3):c.917T>C (p.Ile306Thr)
|
rs1889965425
|
|
NM_000814.6(GABRB3):c.91_92delinsTT (p.Pro31Phe)
|
|
|
NM_000814.6(GABRB3):c.923T>G (p.Met308Arg)
|
rs746425161
|
|
NM_000814.6(GABRB3):c.927C>A (p.Tyr309Ter)
|
|
|
NM_000814.6(GABRB3):c.932T>C (p.Met311Thr)
|
rs1889964664
|
|
NM_000814.6(GABRB3):c.93C>T (p.Pro31=)
|
|
|
NM_000814.6(GABRB3):c.943G>A (p.Val315Ile)
|
rs1889964397
|
|
NM_000814.6(GABRB3):c.943G>T (p.Val315Phe)
|
|
|
NM_000814.6(GABRB3):c.94G>A (p.Gly32Arg)
|
rs71651682
|
|
NM_000814.6(GABRB3):c.958G>A (p.Ala320Thr)
|
rs2140680027
|
|
NM_000814.6(GABRB3):c.967G>A (p.Glu323Lys)
|
|
|
NM_000814.6(GABRB3):c.982A>C (p.Asn328His)
|
rs2140679963
|
|
NM_000814.6(GABRB3):c.985T>C (p.Tyr329His)
|
rs1889963053
|
|
NM_000814.6(GABRB3):c.987C>G (p.Tyr329Ter)
|
|
|
NM_000814.6(GABRB3):c.995T>C (p.Phe332Ser)
|
rs1555401411
|
|
NM_000814.6(GABRB3):c.99C>T (p.Asn33=)
|
|
|
NM_000814.6(GABRB3):c.9C>G (p.Gly3=)
|
|
|
NM_000815.5(GABRD):c.1005C>G (p.Ala335=)
|
|
|
NM_000815.5(GABRD):c.1006G>A (p.Asp336Asn)
|
rs1200416339
|
|
NM_000815.5(GABRD):c.1027G>C (p.Ala343Pro)
|
rs749316684
|
|
NM_000815.5(GABRD):c.1029C>G (p.Ala343=)
|
|
|
NM_000815.5(GABRD):c.1031A>T (p.Lys344Met)
|
rs1659031445
|
|
NM_000815.5(GABRD):c.1035C>G (p.Val345=)
|
|
|
NM_000815.5(GABRD):c.1049C>T (p.Pro350Leu)
|
|
|
NM_000815.5(GABRD):c.104A>G (p.Asn35Ser)
|
|
|
NM_000815.5(GABRD):c.1050G>A (p.Pro350=)
|
|
|
NM_000815.5(GABRD):c.1059+17G>A
|
|
|
NM_000815.5(GABRD):c.1060-13G>A
|
|
|
NM_000815.5(GABRD):c.1060-3C>A
|
|
|
NM_000815.5(GABRD):c.1065C>G (p.Asp355Glu)
|
rs1031482653
|
|
NM_000815.5(GABRD):c.1066G>A (p.Val356Met)
|
|
|
NM_000815.5(GABRD):c.1070G>A (p.Arg357Lys)
|
|
|
NM_000815.5(GABRD):c.1074C>T (p.Asn358=)
|
|
|
NM_000815.5(GABRD):c.1089C>G (p.Phe363Leu)
|
rs1359928378
|
|
NM_000815.5(GABRD):c.1097_1098del (p.Ser366fs)
|
|
|
NM_000815.5(GABRD):c.1105G>T (p.Gly369Cys)
|
rs759836961
|
|
NM_000815.5(GABRD):c.1107C>T (p.Gly369=)
|
|
|
NM_000815.5(GABRD):c.1112C>T (p.Thr371Met)
|
|
|
NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg)
|
rs1659040935
|
|
NM_000815.5(GABRD):c.1125C>T (p.Ala375=)
|
|
|
NM_000815.5(GABRD):c.1133G>T (p.Arg378Leu)
|
|
|
NM_000815.5(GABRD):c.1136G>A (p.Arg379Gln)
|
rs369490217
|
|
NM_000815.5(GABRD):c.1136G>C (p.Arg379Pro)
|
|
|
NM_000815.5(GABRD):c.1141C>T (p.Arg381Cys)
|
rs773818258
|
|
NM_000815.5(GABRD):c.1142G>A (p.Arg381His)
|
|
|
NM_000815.5(GABRD):c.1144C>T (p.Arg382Cys)
|
rs1434291863
|
|
NM_000815.5(GABRD):c.1145G>A (p.Arg382His)
|
|
|
NM_000815.5(GABRD):c.1146C>A (p.Arg382=)
|
rs374718450
|
|
NM_000815.5(GABRD):c.1146C>T (p.Arg382=)
|
rs374718450
|
|
NM_000815.5(GABRD):c.1147G>A (p.Val383Ile)
|
|
|
NM_000815.5(GABRD):c.1149C>G (p.Val383=)
|
|
|
NM_000815.5(GABRD):c.1160T>A (p.Leu387Gln)
|
|
|
NM_000815.5(GABRD):c.1170C>T (p.Ser390=)
|
|
|
NM_000815.5(GABRD):c.1174A>G (p.Arg392Gly)
|
rs1553123940
|
|
NM_000815.5(GABRD):c.1183G>C (p.Gly395Arg)
|
rs763081509
|
|
NM_000815.5(GABRD):c.1186G>T (p.Val396Leu)
|
|
|
NM_000815.5(GABRD):c.1194A>C (p.Thr398=)
|
|
|
NM_000815.5(GABRD):c.1195G>A (p.Gly399Arg)
|
rs1571033517
|
|
NM_000815.5(GABRD):c.1202C>G (p.Thr401Arg)
|
rs116604393
|
|
NM_000815.5(GABRD):c.1214G>T (p.Gly405Val)
|
|
|
NM_000815.5(GABRD):c.1218A>G (p.Ala406=)
|
rs1395046821
|
|
NM_000815.5(GABRD):c.1233C>T (p.Gly411=)
|
rs1052967348
|
|
NM_000815.5(GABRD):c.1239G>A (p.Gly413=)
|
|
|
NM_000815.5(GABRD):c.1241G>A (p.Gly414Asp)
|
|
|
NM_000815.5(GABRD):c.1245C>T (p.Ile415=)
|
|
|
NM_000815.5(GABRD):c.1247G>C (p.Arg416Pro)
|
rs1011029441
|
|
NM_000815.5(GABRD):c.1264A>G (p.Ile422Val)
|
|
|
NM_000815.5(GABRD):c.1273G>A (p.Asp425Asn)
|
rs1380198645
|
|
NM_000815.5(GABRD):c.1290C>T (p.Tyr430=)
|
|
|
NM_000815.5(GABRD):c.1294C>G (p.Arg432Gly)
|
rs1002172902
|
|
NM_000815.5(GABRD):c.1294C>T (p.Arg432Cys)
|
rs1002172902
|
|
NM_000815.5(GABRD):c.1295G>A (p.Arg432His)
|
|
|
NM_000815.5(GABRD):c.1300G>A (p.Val434Met)
|
|
|
NM_000815.5(GABRD):c.1307C>T (p.Pro436Leu)
|
|
|
NM_000815.5(GABRD):c.1310C>T (p.Ala437Val)
|
|
|
NM_000815.5(GABRD):c.1319C>T (p.Ala440Val)
|
rs866487320
|
|
NM_000815.5(GABRD):c.1320G>A (p.Ala440=)
|
|
|
NM_000815.5(GABRD):c.1324G>A (p.Val442Ile)
|
rs756881793
|
|
NM_000815.5(GABRD):c.1330G>A (p.Val444Ile)
|
rs1659053261
|
|
NM_000815.5(GABRD):c.1345G>T (p.Ala449Ser)
|
|
|
NM_000815.5(GABRD):c.137G>A (p.Gly46Glu)
|
rs1441811312
|
|
NM_000815.5(GABRD):c.14C>T (p.Ala5Val)
|
|
|
NM_000815.5(GABRD):c.154G>T (p.Ala52Ser)
|
|
|
NM_000815.5(GABRD):c.16C>G (p.Arg6Gly)
|
rs1658714306
|
|
NM_000815.5(GABRD):c.173G>A (p.Gly58Asp)
|
|
|
NM_000815.5(GABRD):c.181+10G>C
|
rs774122718
|
|
NM_000815.5(GABRD):c.181+13C>A
|
|
|
NM_000815.5(GABRD):c.182-12C>A
|
|
|
NM_000815.5(GABRD):c.182-8C>T
|
rs2102147456
|
|
NM_000815.5(GABRD):c.183C>T (p.Gly61=)
|
|
|
NM_000815.5(GABRD):c.186C>A (p.Pro62=)
|
|
|
NM_000815.5(GABRD):c.187C>G (p.Pro63Ala)
|
|
|
NM_000815.5(GABRD):c.189C>A (p.Pro63=)
|
rs771923214
|
|
NM_000815.5(GABRD):c.189C>T (p.Pro63=)
|
|
|
NM_000815.5(GABRD):c.195T>A (p.Asn65Lys)
|
|
|
NM_000815.5(GABRD):c.201C>G (p.Ala67=)
|
|
|
NM_000815.5(GABRD):c.202C>A (p.Leu68Ile)
|
rs1658892135
|
|
NM_000815.5(GABRD):c.21G>T (p.Leu7=)
|
|
|
NM_000815.5(GABRD):c.225C>T (p.Ile75=)
|
|
|
NM_000815.5(GABRD):c.232A>G (p.Ile78Val)
|
|
|
NM_000815.5(GABRD):c.250-14T>G
|
rs1456692553
|
|
NM_000815.5(GABRD):c.250-16T>C
|
|
|
NM_000815.5(GABRD):c.250-1G>A
|
|
|
NM_000815.5(GABRD):c.273G>A (p.Leu91=)
|
|
|
NM_000815.5(GABRD):c.282C>T (p.Ser94=)
|
rs1310692550
|
|
NM_000815.5(GABRD):c.294C>T (p.Ser98=)
|
|
|
NM_000815.5(GABRD):c.30G>A (p.Pro10=)
|
|
|
NM_000815.5(GABRD):c.332T>G (p.Leu111Arg)
|
rs2102147878
|
|
NM_000815.5(GABRD):c.340C>T (p.Arg114Cys)
|
rs1373382584
|
|
NM_000815.5(GABRD):c.345C>T (p.Phe115=)
|
|
|
NM_000815.5(GABRD):c.366C>T (p.Pro122=)
|
|
|
NM_000815.5(GABRD):c.372C>G (p.Thr124=)
|
|
|
NM_000815.5(GABRD):c.379G>A (p.Val127Met)
|
rs562124721
|
|
NM_000815.5(GABRD):c.387C>A (p.Ala129=)
|
rs1277746264
|
|
NM_000815.5(GABRD):c.389A>C (p.Lys130Thr)
|
|
|
NM_000815.5(GABRD):c.392C>T (p.Ser131Leu)
|
rs201306411
|
|
NM_000815.5(GABRD):c.406G>A (p.Asp136Asn)
|
rs1420010820
|
|
NM_000815.5(GABRD):c.430_432dup (p.Ile144_Arg145insIle)
|
|
|
NM_000815.5(GABRD):c.444C>G (p.Pro148=)
|
|
|
NM_000815.5(GABRD):c.450C>T (p.Gly150=)
|
|
|
NM_000815.5(GABRD):c.457C>T (p.Leu153=)
|
|
|
NM_000815.5(GABRD):c.459G>A (p.Leu153=)
|
rs1217947626
|
|
NM_000815.5(GABRD):c.470+10C>G
|
rs760581006
|
|
NM_000815.5(GABRD):c.470+19C>T
|
|
|
NM_000815.5(GABRD):c.477C>T (p.Thr159=)
|
|
|
NM_000815.5(GABRD):c.479C>T (p.Ser160Phe)
|
rs2102150266
|
|
NM_000815.5(GABRD):c.483T>C (p.Thr161=)
|
|
|
NM_000815.5(GABRD):c.49C>A (p.Gln17Lys)
|
|
|
NM_000815.5(GABRD):c.523G>A (p.Glu175Lys)
|
rs1658963820
|
|
NM_000815.5(GABRD):c.543C>T (p.Asp181=)
|
|
|
NM_000815.5(GABRD):c.553+16A>G
|
|
|
NM_000815.5(GABRD):c.553+20G>A
|
|
|
NM_000815.5(GABRD):c.553+9G>T
|
|
|
NM_000815.5(GABRD):c.554-7C>T
|
rs773941254
|
|
NM_000815.5(GABRD):c.556G>A (p.Gly186Ser)
|
|
|
NM_000815.5(GABRD):c.564A>G (p.Ser188=)
|
rs554663245
|
|
NM_000815.5(GABRD):c.567G>A (p.Ser189=)
|
|
|
NM_000815.5(GABRD):c.56T>G (p.Leu19Arg)
|
|
|
NM_000815.5(GABRD):c.574A>G (p.Ile192Val)
|
rs766753329
|
|
NM_000815.5(GABRD):c.591G>A (p.Ser197=)
|
rs756079485
|
|
NM_000815.5(GABRD):c.59G>A (p.Arg20His)
|
|
|
NM_000815.5(GABRD):c.604C>G (p.His202Asp)
|
|
|
NM_000815.5(GABRD):c.60C>G (p.Arg20=)
|
rs1337443605
|
|
NM_000815.5(GABRD):c.60C>T (p.Arg20=)
|
|
|
NM_000815.5(GABRD):c.61G>A (p.Gly21Ser)
|
rs1214046618
|
|
NM_000815.5(GABRD):c.627G>C (p.Leu209=)
|
|
|
NM_000815.5(GABRD):c.636G>A (p.Ala212=)
|
|
|
NM_000815.5(GABRD):c.638A>G (p.Gln213Arg)
|
rs1557447332
|
|
NM_000815.5(GABRD):c.649A>T (p.Thr217Ser)
|
rs1658982650
|
|
NM_000815.5(GABRD):c.64A>G (p.Thr22Ala)
|
|
|
NM_000815.5(GABRD):c.651dup (p.Ser218fs)
|
rs2102151065
|
|
NM_000815.5(GABRD):c.664A>G (p.Thr222Ala)
|
|
|
NM_000815.5(GABRD):c.669G>A (p.Thr223=)
|
rs763261978
|
|
NM_000815.5(GABRD):c.66C>G (p.Thr22=)
|
|
|
NM_000815.5(GABRD):c.67A>G (p.Arg23Gly)
|
|
|
NM_000815.5(GABRD):c.68+20G>A
|
|
|
NM_000815.5(GABRD):c.68+7G>T
|
|
|
NM_000815.5(GABRD):c.69-20C>T
|
|
|
NM_000815.5(GABRD):c.69-6C>A
|
|
|
NM_000815.5(GABRD):c.69-7T>C
|
rs2102146941
|
|
NM_000815.5(GABRD):c.691+13C>T
|
rs544531983
|
|
NM_000815.5(GABRD):c.691+14_691+57dup
|
rs1252094812
|
|
NM_000815.5(GABRD):c.691+19C>A
|
|
|
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGC
|
rs2102151165
|
|
NM_000815.5(GABRD):c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGC
|
rs2102151165
|
|
NM_000815.5(GABRD):c.691+28_691+49del
|
|
|
NM_000815.5(GABRD):c.691+28_691+49dup
|
rs769061415
|
|
NM_000815.5(GABRD):c.691+57_691+58insGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCC
|
|
|
NM_000815.5(GABRD):c.696C>T (p.Gly232=)
|
rs144046110
|
|
NM_000815.5(GABRD):c.718C>T (p.His240Tyr)
|
rs1659011884
|
|
NM_000815.5(GABRD):c.720C>T (p.His240=)
|
|
|
NM_000815.5(GABRD):c.731G>A (p.Arg244Gln)
|
|
|
NM_000815.5(GABRD):c.733A>G (p.Arg245Gly)
|
|
|
NM_000815.5(GABRD):c.739C>T (p.Arg247Cys)
|
|
|
NM_000815.5(GABRD):c.744C>G (p.Gly248=)
|
rs760689938
|
|
NM_000815.5(GABRD):c.747G>A (p.Val249=)
|
rs199993714
|
|
NM_000815.5(GABRD):c.751ATC[1] (p.Ile252del)
|
rs1201664324
|
|
NM_000815.5(GABRD):c.758A>T (p.Gln253Leu)
|
|
|
NM_000815.5(GABRD):c.766A>G (p.Met256Val)
|
|
|
NM_000815.5(GABRD):c.770C>T (p.Pro257Leu)
|
|
|
NM_000815.5(GABRD):c.818A>G (p.Gln273Arg)
|
|
|
NM_000815.5(GABRD):c.819G>C (p.Gln273His)
|
rs1659015905
|
|
NM_000815.5(GABRD):c.81C>T (p.Asp27=)
|
|
|
NM_000815.5(GABRD):c.821C>T (p.Ala274Val)
|
rs749733672
|
|
NM_000815.5(GABRD):c.823G>A (p.Ala275Thr)
|
|
|
NM_000815.5(GABRD):c.825G>A (p.Ala275=)
|
|
|
NM_000815.5(GABRD):c.847+15C>T
|
|
|
NM_000815.5(GABRD):c.847+16G>A
|
|
|
NM_000815.5(GABRD):c.847+4C>T
|
|
|
NM_000815.5(GABRD):c.847+7G>C
|
rs1452430582
|
|
NM_000815.5(GABRD):c.848-17C>T
|
|
|
NM_000815.5(GABRD):c.848-19C>T
|
|
|
NM_000815.5(GABRD):c.848-5G>A
|
|
|
NM_000815.5(GABRD):c.848-9G>A
|
rs1659025020
|
|
NM_000815.5(GABRD):c.858G>A (p.Thr286=)
|
rs372178849
|
|
NM_000815.5(GABRD):c.858G>C (p.Thr286=)
|
rs372178849
|
|
NM_000815.5(GABRD):c.867G>A (p.Thr289=)
|
rs150619024
|
|
NM_000815.5(GABRD):c.869_871del (p.Met290del)
|
|
|
NM_000815.5(GABRD):c.876G>A (p.Thr292=)
|
|
|
NM_000815.5(GABRD):c.88G>A (p.Asp30Asn)
|
rs74786356
|
|
NM_000815.5(GABRD):c.896C>T (p.Ser299Phe)
|
|
|
NM_000815.5(GABRD):c.907C>T (p.Arg303Trp)
|
|
|
NM_000815.5(GABRD):c.909G>A (p.Arg303=)
|
rs2102152967
|
|
NM_000815.5(GABRD):c.909G>T (p.Arg303=)
|
|
|
NM_000815.5(GABRD):c.928C>T (p.Leu310=)
|
rs745961044
|
|
NM_000815.5(GABRD):c.939C>T (p.Tyr313=)
|
|
|
NM_000815.5(GABRD):c.968C>T (p.Ala323Val)
|
|
|
NM_000815.5(GABRD):c.969C>A (p.Ala323=)
|
rs146381127
|
|
NM_000815.5(GABRD):c.985G>A (p.Ala329Thr)
|
|
|
NM_001127644.2(GABRA1):c.1001T>G (p.Val334Gly)
|
|
|
NM_001127644.2(GABRA1):c.1004A>T (p.Asn335Ile)
|
rs1581220295
|
|
NM_001127644.2(GABRA1):c.1008T>C (p.Tyr336=)
|
|
|
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser)
|
rs1561587910
|
|
NM_001127644.2(GABRA1):c.1020A>G (p.Arg340=)
|
|
|
NM_001127644.2(GABRA1):c.1029A>G (p.Ala343=)
|
rs1304537393
|
|
NM_001127644.2(GABRA1):c.1033G>A (p.Asp345Asn)
|
rs2113465051
|
|
NM_001127644.2(GABRA1):c.103C>A (p.Leu35Ile)
|
|
|
NM_001127644.2(GABRA1):c.1043G>C (p.Ser348Thr)
|
|
|
NM_001127644.2(GABRA1):c.1059+14T>C
|
|
|
NM_001127644.2(GABRA1):c.1059+2T>C
|
rs1755341108
|
|
NM_001127644.2(GABRA1):c.1059+7G>A
|
|
|
NM_001127644.2(GABRA1):c.1059+8C>A
|
rs758699164
|
|
NM_001127644.2(GABRA1):c.1060-10del
|
rs1581221506
|
|
NM_001127644.2(GABRA1):c.1060-14C>T
|
rs1755401207
|
|
NM_001127644.2(GABRA1):c.1065G>A (p.Lys355=)
|
rs1554087785
|
|
NM_001127644.2(GABRA1):c.1068A>G (p.Lys356=)
|
|
|
NM_001127644.2(GABRA1):c.1069G>A (p.Val357Ile)
|
|
|
NM_001127644.2(GABRA1):c.1070T>A (p.Val357Glu)
|
rs749707253
|
|
NM_001127644.2(GABRA1):c.1070_1074del (p.Val357fs)
|
|
|
NM_001127644.2(GABRA1):c.1078C>A (p.Pro360Thr)
|
|
|
NM_001127644.2(GABRA1):c.1078C>G (p.Pro360Ala)
|
|
|
NM_001127644.2(GABRA1):c.1078C>T (p.Pro360Ser)
|
|
|
NM_001127644.2(GABRA1):c.1079C>T (p.Pro360Leu)
|
rs80337021
|
|
NM_001127644.2(GABRA1):c.1081C>T (p.Leu361Phe)
|
|
|
NM_001127644.2(GABRA1):c.1099A>T (p.Thr367Ser)
|
rs2113469507
|
|
NM_001127644.2(GABRA1):c.1105G>A (p.Ala369Thr)
|
rs775344663
|
|
NM_001127644.2(GABRA1):c.1108C>T (p.Pro370Ser)
|
rs1424508480
|
|
NM_001127644.2(GABRA1):c.1138G>C (p.Ala380Pro)
|
rs2113469735
|
|
NM_001127644.2(GABRA1):c.1145G>A (p.Gly382Asp)
|
|
|
NM_001127644.2(GABRA1):c.1146C>A (p.Gly382=)
|
|
|
NM_001127644.2(GABRA1):c.1151C>G (p.Pro384Arg)
|
|
|
NM_001127644.2(GABRA1):c.1152G>A (p.Pro384=)
|
rs777957860
|
|
NM_001127644.2(GABRA1):c.1158A>T (p.Leu386Phe)
|
|
|
NM_001127644.2(GABRA1):c.1159G>T (p.Ala387Ser)
|
rs1561588765
|
|
NM_001127644.2(GABRA1):c.1160C>T (p.Ala387Val)
|
rs1755408701
|
|
NM_001127644.2(GABRA1):c.1162A>C (p.Thr388Pro)
|
rs2113469919
|
|
NM_001127644.2(GABRA1):c.1184T>C (p.Ile395Thr)
|
|
|
NM_001127644.2(GABRA1):c.1192A>G (p.Lys398Glu)
|
rs1755409878
|
|
NM_001127644.2(GABRA1):c.1199T>C (p.Val400Ala)
|
|
|
NM_001127644.2(GABRA1):c.11G>A (p.Ser4Asn)
|
rs796052487
|
|
NM_001127644.2(GABRA1):c.1202A>G (p.Lys401Arg)
|
rs745362654
|
|
NM_001127644.2(GABRA1):c.1206C>A (p.Pro402=)
|
|
|
NM_001127644.2(GABRA1):c.1207G>A (p.Glu403Lys)
|
rs775157869
|
|
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)
|
rs775157869
|
|
NM_001127644.2(GABRA1):c.1211C>G (p.Thr404Arg)
|
rs768389200
|
|
NM_001127644.2(GABRA1):c.1212A>G (p.Thr404=)
|
|
|
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser)
|
rs139793542
|
|
NM_001127644.2(GABRA1):c.1239T>C (p.Phe413=)
|
rs2113470244
|
|
NM_001127644.2(GABRA1):c.1244G>C (p.Ser415Thr)
|
rs752803296
|
|
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu)
|
rs2113307162
|
|
NM_001127644.2(GABRA1):c.1251C>T (p.Ser417=)
|
|
|
NM_001127644.2(GABRA1):c.1253A>G (p.Lys418Arg)
|
rs1490107518
|
|
NM_001127644.2(GABRA1):c.1257T>C (p.Ile419=)
|
rs1755413332
|
|
NM_001127644.2(GABRA1):c.1259A>G (p.Asp420Gly)
|
|
|
NM_001127644.2(GABRA1):c.1260C>T (p.Asp420=)
|
|
|
NM_001127644.2(GABRA1):c.1261C>T (p.Arg421Ter)
|
|
|
NM_001127644.2(GABRA1):c.1263A>T (p.Arg421=)
|
rs1581221881
|
|
NM_001127644.2(GABRA1):c.1264C>T (p.Leu422=)
|
rs754135872
|
|
NM_001127644.2(GABRA1):c.1274T>C (p.Ile425Thr)
|
rs1755414752
|
|
NM_001127644.2(GABRA1):c.1288C>T (p.Leu430=)
|
|
|
NM_001127644.2(GABRA1):c.1321_1324delinsC (p.Thr441_Tyr442delinsHis)
|
rs1755416915
|
|
NM_001127644.2(GABRA1):c.1329A>G (p.Leu443=)
|
rs2113470613
|
|
NM_001127644.2(GABRA1):c.1332C>G (p.Asn444Lys)
|
rs1554087843
|
|
NM_001127644.2(GABRA1):c.1347A>G (p.Leu449=)
|
|
|
NM_001127644.2(GABRA1):c.1350dup (p.Ala451fs)
|
|
|
NM_001127644.2(GABRA1):c.1351G>A (p.Ala451Thr)
|
rs1312439667
|
|
NM_001127644.2(GABRA1):c.1354_1356dup (p.Pro452dup)
|
rs1755419468
|
|
NM_001127644.2(GABRA1):c.1357A>C (p.Thr453Pro)
|
rs747892371
|
|
NM_001127644.2(GABRA1):c.1358_1359delinsTC (p.Thr453Ile)
|
|
|
NM_001127644.2(GABRA1):c.1360C>T (p.Pro454Ser)
|
|
|
NM_001127644.2(GABRA1):c.1365T>C (p.His455=)
|
|
|
NM_001127644.2(GABRA1):c.1366C>T (p.Gln456Ter)
|
rs1755420995
|
|
NM_001127644.2(GABRA1):c.138G>T (p.Leu46Phe)
|
|
|
NM_001127644.2(GABRA1):c.13C>T (p.Pro5Ser)
|
rs866369940
|
|
NM_001127644.2(GABRA1):c.147C>A (p.Leu49=)
|
rs2113307246
|
|
NM_001127644.2(GABRA1):c.148C>T (p.Leu50=)
|
rs2113307265
|
|
NM_001127644.2(GABRA1):c.150A>G (p.Leu50=)
|
rs1006797468
|
|
NM_001127644.2(GABRA1):c.153T>C (p.Asp51=)
|
|
|
NM_001127644.2(GABRA1):c.167G>A (p.Arg56His)
|
|
|
NM_001127644.2(GABRA1):c.176C>T (p.Pro59Leu)
|
rs1064796448
|
|
NM_001127644.2(GABRA1):c.187+16G>T
|
|
|
NM_001127644.2(GABRA1):c.187+5G>T
|
rs368360804
|
|
NM_001127644.2(GABRA1):c.188-12C>G
|
|
|
NM_001127644.2(GABRA1):c.188-14T>C
|
|
|
NM_001127644.2(GABRA1):c.188-15T>A
|
|
|
NM_001127644.2(GABRA1):c.188-19C>T
|
|
|
NM_001127644.2(GABRA1):c.188-9C>A
|
|
|
NM_001127644.2(GABRA1):c.190C>T (p.Arg64Cys)
|
rs1753807484
|
|
NM_001127644.2(GABRA1):c.197C>A (p.Thr66Asn)
|
rs2113354062
|
|
NM_001127644.2(GABRA1):c.200A>T (p.Glu67Val)
|
|
|
NM_001127644.2(GABRA1):c.201A>G (p.Glu67=)
|
rs766903604
|
|
NM_001127644.2(GABRA1):c.20T>G (p.Leu7Arg)
|
|
|
NM_001127644.2(GABRA1):c.214A>C (p.Ile72Leu)
|
|
|
NM_001127644.2(GABRA1):c.216C>A (p.Ile72=)
|
|
|
NM_001127644.2(GABRA1):c.216C>G (p.Ile72Met)
|
|
|
NM_001127644.2(GABRA1):c.217T>A (p.Phe73Ile)
|
rs1753808798
|
|
NM_001127644.2(GABRA1):c.226A>G (p.Ser76Gly)
|
rs1402107983
|
|
NM_001127644.2(GABRA1):c.227G>A (p.Ser76Asn)
|
|
|
NM_001127644.2(GABRA1):c.232G>A (p.Gly78Arg)
|
rs1561571575
|
|
NM_001127644.2(GABRA1):c.235C>A (p.Pro79Thr)
|
rs2113354212
|
|
NM_001127644.2(GABRA1):c.250G>C (p.Asp84His)
|
|
|
NM_001127644.2(GABRA1):c.253A>G (p.Met85Val)
|
|
|
NM_001127644.2(GABRA1):c.255+10C>A
|
|
|
NM_001127644.2(GABRA1):c.255+8G>A
|
|
|
NM_001127644.2(GABRA1):c.255+9A>T
|
|
|
NM_001127644.2(GABRA1):c.256-2A>G
|
rs1064795805
|
|
NM_001127644.2(GABRA1):c.256-4C>T
|
|
|
NM_001127644.2(GABRA1):c.258A>G (p.Glu86=)
|
|
|
NM_001127644.2(GABRA1):c.261T>C (p.Tyr87=)
|
rs1057523723
|
|
NM_001127644.2(GABRA1):c.268G>T (p.Asp90Tyr)
|
rs796052488
|
|
NM_001127644.2(GABRA1):c.269A>G (p.Asp90Gly)
|
|
|
NM_001127644.2(GABRA1):c.275T>C (p.Phe92Ser)
|
rs2113380903
|
|
NM_001127644.2(GABRA1):c.281G>A (p.Arg94His)
|
|
|
NM_001127644.2(GABRA1):c.287G>T (p.Ser96Ile)
|
|
|
NM_001127644.2(GABRA1):c.288C>T (p.Ser96=)
|
|
|
NM_001127644.2(GABRA1):c.28T>C (p.Cys10Arg)
|
rs1217531305
|
|
NM_001127644.2(GABRA1):c.296A>G (p.Asp99Gly)
|
rs1754197638
|
|
NM_001127644.2(GABRA1):c.303G>A (p.Arg101=)
|
rs758360317
|
|
NM_001127644.2(GABRA1):c.312T>G (p.Phe104Leu)
|
rs2113381036
|
|
NM_001127644.2(GABRA1):c.320C>A (p.Pro107His)
|
|
|
NM_001127644.2(GABRA1):c.320C>T (p.Pro107Leu)
|
|
|
NM_001127644.2(GABRA1):c.321T>A (p.Pro107=)
|
rs932397983
|
|
NM_001127644.2(GABRA1):c.322A>G (p.Met108Val)
|
rs2113381084
|
|
NM_001127644.2(GABRA1):c.326C>T (p.Thr109Ile)
|
rs2113381099
|
|
NM_001127644.2(GABRA1):c.332T>C (p.Leu111Pro)
|
|
|
NM_001127644.2(GABRA1):c.333C>A (p.Leu111=)
|
|
|
NM_001127644.2(GABRA1):c.334C>T (p.Arg112Trp)
|
rs1754199170
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001127644.2(GABRA1):c.335G>T (p.Arg112Leu)
|
|
|
NM_001127644.2(GABRA1):c.346C>T (p.Leu116=)
|
rs1048661957
|
|
NM_001127644.2(GABRA1):c.348A>G (p.Leu116=)
|
rs1233872919
|
|
NM_001127644.2(GABRA1):c.35G>T (p.Trp12Leu)
|
|
|
NM_001127644.2(GABRA1):c.365G>A (p.Trp122Ter)
|
|
|
NM_001127644.2(GABRA1):c.374A>G (p.Asp125Gly)
|
rs2113381253
|
|
NM_001127644.2(GABRA1):c.379T>G (p.Phe127Val)
|
|
|
NM_001127644.2(GABRA1):c.37G>A (p.Ala13Thr)
|
|
|
NM_001127644.2(GABRA1):c.396G>A (p.Lys132=)
|
|
|
NM_001127644.2(GABRA1):c.39C>G (p.Ala13=)
|
rs1581175017
|
|
NM_001127644.2(GABRA1):c.413A>G (p.Asn138Ser)
|
|
|
NM_001127644.2(GABRA1):c.419C>A (p.Thr140Asn)
|
|
|
NM_001127644.2(GABRA1):c.429C>A (p.Asn143Lys)
|
|
|
NM_001127644.2(GABRA1):c.429C>T (p.Asn143=)
|
|
|
NM_001127644.2(GABRA1):c.42G>T (p.Trp14Cys)
|
|
|
NM_001127644.2(GABRA1):c.430A>G (p.Lys144Glu)
|
rs2113381483
|
|
NM_001127644.2(GABRA1):c.435C>G (p.Leu145=)
|
|
|
NM_001127644.2(GABRA1):c.439C>A (p.Arg147=)
|
|
|
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
|
|
|
NM_001127644.2(GABRA1):c.439C>T (p.Arg147Trp)
|
rs139163545
|
|
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)
|
rs1376907797
|
|
NM_001127644.2(GABRA1):c.453T>C (p.Asp151=)
|
rs1308271547
|
|
NM_001127644.2(GABRA1):c.463C>T (p.Leu155=)
|
|
|
NM_001127644.2(GABRA1):c.474G>A (p.Met158Ile)
|
rs1754206052
|
|
NM_001127644.2(GABRA1):c.476+14C>T
|
rs1180737693
|
|
NM_001127644.2(GABRA1):c.476+19C>T
|
rs1057522828
|
|
NM_001127644.2(GABRA1):c.476+2T>A
|
rs2113381723
|
|
NM_001127644.2(GABRA1):c.477-14_477-13del
|
|
|
NM_001127644.2(GABRA1):c.477-7C>T
|
|
|
NM_001127644.2(GABRA1):c.481A>G (p.Thr161Ala)
|
|
|
NM_001127644.2(GABRA1):c.485T>G (p.Val162Gly)
|
rs1554085822
|
|
NM_001127644.2(GABRA1):c.48C>T (p.Leu16=)
|
rs1554083720
|
|
NM_001127644.2(GABRA1):c.498T>G (p.Cys166Trp)
|
rs1437350481
|
|
NM_001127644.2(GABRA1):c.513G>A (p.Glu171=)
|
|
|
NM_001127644.2(GABRA1):c.522T>A (p.Pro174=)
|
|
|
NM_001127644.2(GABRA1):c.534T>G (p.His178Gln)
|
rs1754314083
|
|
NM_001127644.2(GABRA1):c.537T>C (p.Ala179=)
|
rs945438671
|
|
NM_001127644.2(GABRA1):c.554G>T (p.Gly185Val)
|
rs2113389243
|
|
NM_001127644.2(GABRA1):c.559+15A>G
|
|
|
NM_001127644.2(GABRA1):c.559+16T>C
|
|
|
NM_001127644.2(GABRA1):c.559+18G>A
|
|
|
NM_001127644.2(GABRA1):c.559+19A>G
|
rs1554085838
|
|
NM_001127644.2(GABRA1):c.559+20C>T
|
rs2113389380
|
|
NM_001127644.2(GABRA1):c.560-12G>C
|
|
|
NM_001127644.2(GABRA1):c.560-13T>C
|
rs2113414291
|
|
NM_001127644.2(GABRA1):c.560-95_598del
|
|
|
NM_001127644.2(GABRA1):c.560-9T>C
|
rs1581207011
|
|
NM_001127644.2(GABRA1):c.560-9del
|
rs1230461981
|
|
NM_001127644.2(GABRA1):c.560A>G (p.Tyr187Cys)
|
|
|
NM_001127644.2(GABRA1):c.560A>T (p.Tyr187Phe)
|
rs1388847957
|
|
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
|
|
|
NM_001127644.2(GABRA1):c.565T>C (p.Tyr189His)
|
|
|
NM_001127644.2(GABRA1):c.576A>G (p.Ala192=)
|
rs1319609279
|
|
NM_001127644.2(GABRA1):c.576A>T (p.Ala192=)
|
|
|
NM_001127644.2(GABRA1):c.596C>G (p.Thr199Ser)
|
|
|
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys)
|
rs2113293570
|
|
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
|
|
|
NM_001127644.2(GABRA1):c.611G>T (p.Arg204Leu)
|
|
|
NM_001127644.2(GABRA1):c.612C>G (p.Arg204=)
|
|
|
NM_001127644.2(GABRA1):c.619G>T (p.Val207Phe)
|
rs2113414552
|
|
NM_001127644.2(GABRA1):c.624A>G (p.Val208=)
|
|
|
NM_001127644.2(GABRA1):c.627A>G (p.Ala209=)
|
|
|
NM_001127644.2(GABRA1):c.634G>C (p.Gly212Arg)
|
rs1754664241
|
|
NM_001127644.2(GABRA1):c.637T>A (p.Ser213Thr)
|
rs1581207094
|
|
NM_001127644.2(GABRA1):c.638C>T (p.Ser213Leu)
|
rs1754664529
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)
|
rs886039373
|
|
NM_001127644.2(GABRA1):c.649C>A (p.Gln217Lys)
|
rs1554086437
|
|
NM_001127644.2(GABRA1):c.651G>A (p.Gln217=)
|
|
|
NM_001127644.2(GABRA1):c.653A>C (p.Tyr218Ser)
|
rs1754665353
|
|
NM_001127644.2(GABRA1):c.67G>A (p.Gly23Arg)
|
|
|
NM_001127644.2(GABRA1):c.702A>G (p.Thr234=)
|
rs1392262946
|
|
NM_001127644.2(GABRA1):c.703+18A>G
|
|
|
NM_001127644.2(GABRA1):c.703+5G>A
|
rs1754668246
|
|
NM_001127644.2(GABRA1):c.703+8C>A
|
rs376693195
|
|
NM_001127644.2(GABRA1):c.703+8C>T
|
rs376693195
|
|
NM_001127644.2(GABRA1):c.703+9G>A
|
|
|
NM_001127644.2(GABRA1):c.708A>G (p.Glu236=)
|
|
|
NM_001127644.2(GABRA1):c.723C>A (p.Thr241=)
|
rs2113446356
|
|
NM_001127644.2(GABRA1):c.725C>T (p.Thr242Ile)
|
rs759786297
|
|
NM_001127644.2(GABRA1):c.729T>C (p.His243=)
|
rs772218052
|
|
NM_001127644.2(GABRA1):c.732C>T (p.Phe244=)
|
rs1581215256
|
|
NM_001127644.2(GABRA1):c.74+10C>T
|
rs557887445
|
|
NM_001127644.2(GABRA1):c.74+13T>A
|
|
|
NM_001127644.2(GABRA1):c.74+16T>A
|
|
|
NM_001127644.2(GABRA1):c.74+16del
|
|
|
NM_001127644.2(GABRA1):c.74+3_74+4delinsAT
|
rs1757418856
|
|
NM_001127644.2(GABRA1):c.74+5G>A
|
|
|
NM_001127644.2(GABRA1):c.74+6G>A
|
rs754431874
|
|
NM_001127644.2(GABRA1):c.74+9A>C
|
|
|
NM_001127644.2(GABRA1):c.74+9A>T
|
rs41275339
|
|
NM_001127644.2(GABRA1):c.75-11T>C
|
|
|
NM_001127644.2(GABRA1):c.75-13T>C
|
|
|
NM_001127644.2(GABRA1):c.75-14_75-13del
|
|
|
NM_001127644.2(GABRA1):c.75-17T>G
|
|
|
NM_001127644.2(GABRA1):c.75-18C>G
|
|
|
NM_001127644.2(GABRA1):c.75-4dup
|
rs563768487
|
|
NM_001127644.2(GABRA1):c.75-7T>C
|
|
|
NM_001127644.2(GABRA1):c.75-8T>G
|
|
|
NM_001127644.2(GABRA1):c.751G>A (p.Gly251Ser)
|
rs587777307
|
|
NM_001127644.2(GABRA1):c.753C>T (p.Gly251=)
|
rs2113446431
|
|
NM_001127644.2(GABRA1):c.755A>G (p.Tyr252Cys)
|
rs2113446442
|
|
NM_001127644.2(GABRA1):c.768A>G (p.Gln256=)
|
|
|
NM_001127644.2(GABRA1):c.770C>T (p.Thr257Ile)
|
rs1755061866
|
|
NM_001127644.2(GABRA1):c.775C>T (p.Leu259=)
|
|
|
NM_001127644.2(GABRA1):c.787A>T (p.Met263Leu)
|
rs1561584736
|
|
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr)
|
rs796052491
|
|
NM_001127644.2(GABRA1):c.790A>G (p.Thr264Ala)
|
|
|
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)
|
rs796052492
|
|
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe)
|
rs796052492
|
|
NM_001127644.2(GABRA1):c.79G>A (p.Gly27Arg)
|
|
|
NM_001127644.2(GABRA1):c.809T>G (p.Val270Gly)
|
rs1755063375
|
|
NM_001127644.2(GABRA1):c.813del (p.Phe272fs)
|
rs2113446665
|
|
NM_001127644.2(GABRA1):c.817T>C (p.Trp273Arg)
|
|
|
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser)
|
rs1755063824
|
|
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys)
|
rs1755063970
|
|
NM_001127644.2(GABRA1):c.828A>C (p.Arg276Ser)
|
|
|
NM_001127644.2(GABRA1):c.830A>G (p.Glu277Gly)
|
|
|
NM_001127644.2(GABRA1):c.831G>T (p.Glu277Asp)
|
rs764666718
|
|
NM_001127644.2(GABRA1):c.833C>A (p.Ser278Tyr)
|
|
|
NM_001127644.2(GABRA1):c.833C>T (p.Ser278Phe)
|
|
|
NM_001127644.2(GABRA1):c.834T>G (p.Ser278=)
|
rs749956729
|
|
NM_001127644.2(GABRA1):c.839C>A (p.Pro280Gln)
|
|
|
NM_001127644.2(GABRA1):c.850G>C (p.Val284Leu)
|
rs1755065243
|
|
NM_001127644.2(GABRA1):c.856+8C>T
|
rs1554087151
|
|
NM_001127644.2(GABRA1):c.857-10T>A
|
rs2113464132
|
|
NM_001127644.2(GABRA1):c.857-18T>A
|
rs78782356
|
|
NM_001127644.2(GABRA1):c.857-19_857-18delinsCC
|
|
|
NM_001127644.2(GABRA1):c.857-20del
|
|
|
NM_001127644.2(GABRA1):c.857-2A>G
|
rs1313965409
|
|
NM_001127644.2(GABRA1):c.857-8C>T
|
rs752572964
|
|
NM_001127644.2(GABRA1):c.857-9del
|
rs3214859
|
|
NM_001127644.2(GABRA1):c.857-9dup
|
rs3214859
|
|
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile)
|
rs796052493
|
|
NM_001127644.2(GABRA1):c.85C>A (p.Pro29Thr)
|
|
|
NM_001127644.2(GABRA1):c.863C>T (p.Thr288Ile)
|
rs1755330256
|
|
NM_001127644.2(GABRA1):c.865A>G (p.Thr289Ala)
|
rs189199636
|
|
NM_001127644.2(GABRA1):c.867T>A (p.Thr289=)
|
|
|
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)
|
rs1561587715
|
|
NM_001127644.2(GABRA1):c.875C>T (p.Thr292Ile)
|
|
|
NM_001127644.2(GABRA1):c.881C>G (p.Thr294Arg)
|
rs796052495
|
|
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)
|
rs796052496
|
|
NM_001127644.2(GABRA1):c.906C>T (p.Asn302=)
|
|
|
NM_001127644.2(GABRA1):c.914C>T (p.Pro305Leu)
|
rs1755333582
|
|
NM_001127644.2(GABRA1):c.920T>C (p.Val307Ala)
|
rs1581220195
|
|
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp)
|
rs1554087620
|
|
NM_001127644.2(GABRA1):c.927T>C (p.Tyr309=)
|
|
|
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile)
|
rs1581220210
|
|
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter)
|
rs769743354
|
|
NM_001127644.2(GABRA1):c.950T>C (p.Ile317Thr)
|
rs1755335825
|
|
NM_001127644.2(GABRA1):c.955G>A (p.Val319Met)
|
rs2113464702
|
|
NM_001127644.2(GABRA1):c.962A>G (p.Tyr321Cys)
|
rs1755336507
|
|
NM_001127644.2(GABRA1):c.975C>A (p.Phe325Leu)
|
rs2113464798
|
|
NM_001127644.2(GABRA1):c.978A>G (p.Ser326=)
|
|
|
NM_001127644.2(GABRA1):c.978_982del (p.Ala327fs)
|
|
|
NM_001127644.2(GABRA1):c.97G>A (p.Asp33Asn)
|
|
|
NM_001127644.2(GABRA1):c.983T>C (p.Leu328Pro)
|
|
|
NM_001127644.2(GABRA1):c.998C>T (p.Thr333Ile)
|
rs2113464870
|
|
NM_001127644.2(GABRA1):c.999A>T (p.Thr333=)
|
|
|
NM_001350451.2(RBFOX3):c.1004G>T (p.Gly335Val)
|
rs2146211667
|
|
NM_001350451.2(RBFOX3):c.1028C>G (p.Pro343Arg)
|
rs1208480613
|
|
NM_001350451.2(RBFOX3):c.1052C>T (p.Ala351Val)
|
|
|
NM_001350451.2(RBFOX3):c.1058C>T (p.Thr353Ile)
|
|
|
NM_001350451.2(RBFOX3):c.1062C>T (p.Tyr354=)
|
|
|
NM_001350451.2(RBFOX3):c.1067T>C (p.Ile356Thr)
|
|
|
NM_001350451.2(RBFOX3):c.1068T>G (p.Ile356Met)
|
rs2074722616
|
|
NM_001350451.2(RBFOX3):c.1077+13G>A
|
|
|
NM_001350451.2(RBFOX3):c.1077+16C>T
|
rs2146209619
|
|
NM_001350451.2(RBFOX3):c.1077+9C>A
|
rs1451910541
|
|
NM_001350451.2(RBFOX3):c.1078-12T>A
|
|
|
NM_001350451.2(RBFOX3):c.110C>A (p.Thr37Asn)
|
|
|
NM_001350451.2(RBFOX3):c.110C>T (p.Thr37Ile)
|
|
|
NM_001350451.2(RBFOX3):c.118C>T (p.Pro40Ser)
|
rs1298625389
|
|
NM_001350451.2(RBFOX3):c.121A>C (p.Thr41Pro)
|
|
|
NM_001350451.2(RBFOX3):c.126G>T (p.Glu42Asp)
|
rs1412372562
|
|
NM_001350451.2(RBFOX3):c.128A>G (p.His43Arg)
|
|
|
NM_001350451.2(RBFOX3):c.139C>T (p.Leu47=)
|
rs2033680072
|
|
NM_001350451.2(RBFOX3):c.145A>G (p.Thr49Ala)
|
|
|
NM_001350451.2(RBFOX3):c.164C>G (p.Pro55Arg)
|
rs2146997386
|
|
NM_001350451.2(RBFOX3):c.164C>T (p.Pro55Leu)
|
|
|
NM_001350451.2(RBFOX3):c.201C>T (p.Ile67=)
|
rs2146996449
|
|
NM_001350451.2(RBFOX3):c.202G>A (p.Ala68Thr)
|
rs557599713
|
|
NM_001350451.2(RBFOX3):c.205G>C (p.Gly69Arg)
|
|
|
NM_001350451.2(RBFOX3):c.20C>T (p.Pro7Leu)
|
rs2033733857
|
|
NM_001350451.2(RBFOX3):c.215C>G (p.Thr72Arg)
|
rs1372121041
|
|
NM_001350451.2(RBFOX3):c.217G>A (p.Val73Met)
|
|
|
NM_001350451.2(RBFOX3):c.21C>A (p.Pro7=)
|
rs751793355
|
|
NM_001350451.2(RBFOX3):c.21C>G (p.Pro7=)
|
rs751793355
|
|
NM_001350451.2(RBFOX3):c.21C>T (p.Pro7=)
|
rs751793355
|
|
NM_001350451.2(RBFOX3):c.222+13A>G
|
|
|
NM_001350451.2(RBFOX3):c.222+5G>A
|
|
|
NM_001350451.2(RBFOX3):c.222G>A (p.Pro74=)
|
rs1037097785
|
|
NM_001350451.2(RBFOX3):c.222G>C (p.Pro74=)
|
rs1037097785
|
|
NM_001350451.2(RBFOX3):c.223-17C>T
|
rs761056905
|
|
NM_001350451.2(RBFOX3):c.223-9_223-8del
|
|
|
NM_001350451.2(RBFOX3):c.223-9del
|
|
|
NM_001350451.2(RBFOX3):c.254A>C (p.Gln85Pro)
|
rs2146665255
|
|
NM_001350451.2(RBFOX3):c.255G>A (p.Gln85=)
|
rs1213853848
|
|
NM_001350451.2(RBFOX3):c.258G>A (p.Pro86=)
|
|
|
NM_001350451.2(RBFOX3):c.263A>T (p.His88Leu)
|
|
|
NM_001350451.2(RBFOX3):c.273C>A (p.Asp91Glu)
|
rs1599450000
|
|
NM_001350451.2(RBFOX3):c.307G>A (p.Val103Ile)
|
rs1465377886
|
|
NM_001350451.2(RBFOX3):c.30C>T (p.Tyr10=)
|
rs1555694660
|
|
NM_001350451.2(RBFOX3):c.326G>A (p.Arg109Gln)
|
|
|
NM_001350451.2(RBFOX3):c.33C>G (p.Pro11=)
|
rs530721444
|
|
NM_001350451.2(RBFOX3):c.342C>T (p.Asp114=)
|
rs2146662664
|
|
NM_001350451.2(RBFOX3):c.35C>T (p.Pro12Leu)
|
rs1403085500
|
|
NM_001350451.2(RBFOX3):c.35dup (p.Pro13fs)
|
|
|
NM_001350451.2(RBFOX3):c.360+13G>A
|
|
|
NM_001350451.2(RBFOX3):c.361-10del
|
rs2146564382
|
|
NM_001350451.2(RBFOX3):c.361-18_361-17del
|
rs2076947605
|
|
NM_001350451.2(RBFOX3):c.361-20C>G
|
|
|
NM_001350451.2(RBFOX3):c.361-8_361-3del
|
|
|
NM_001350451.2(RBFOX3):c.378A>C (p.Leu126Phe)
|
|
|
NM_001350451.2(RBFOX3):c.381C>T (p.Asp127=)
|
|
|
NM_001350451.2(RBFOX3):c.38C>G (p.Pro13Arg)
|
rs1226535060
|
|
NM_001350451.2(RBFOX3):c.38C>T (p.Pro13Leu)
|
rs1226535060
|
|
NM_001350451.2(RBFOX3):c.399C>T (p.Asn133=)
|
|
|
NM_001350451.2(RBFOX3):c.404G>A (p.Arg135Gln)
|
rs2076940658
|
|
NM_001350451.2(RBFOX3):c.414+12A>C
|
|
|
NM_001350451.2(RBFOX3):c.414+14G>A
|
|
|
NM_001350451.2(RBFOX3):c.414+17G>A
|
|
|
NM_001350451.2(RBFOX3):c.414G>C (p.Lys138Asn)
|
rs1568134061
|
|
NM_001350451.2(RBFOX3):c.435T>C (p.Phe145=)
|
rs754135050
|
|
NM_001350451.2(RBFOX3):c.453T>A (p.Ala151=)
|
rs2146531567
|
|
NM_001350451.2(RBFOX3):c.457C>G (p.Arg153Gly)
|
|
|
NM_001350451.2(RBFOX3):c.465G>A (p.Arg155=)
|
|
|
NM_001350451.2(RBFOX3):c.49G>A (p.Gly17Ser)
|
|
|
NM_001350451.2(RBFOX3):c.522G>A (p.Thr174=)
|
rs776142495
|
|
NM_001350451.2(RBFOX3):c.542AGA[1] (p.Lys182del)
|
rs1568129070
|
|
NM_001350451.2(RBFOX3):c.54C>G (p.Ile18Met)
|
rs2033713868
|
|
NM_001350451.2(RBFOX3):c.552G>A (p.Gly184=)
|
|
|
NM_001350451.2(RBFOX3):c.556C>A (p.Pro186Thr)
|
rs372072435
|
|
NM_001350451.2(RBFOX3):c.562A>G (p.Thr188Ala)
|
|
|
NM_001350451.2(RBFOX3):c.568+16C>A
|
|
|
NM_001350451.2(RBFOX3):c.568+16_568+17insT
|
|
|
NM_001350451.2(RBFOX3):c.568+18C>T
|
|
|
NM_001350451.2(RBFOX3):c.568+5G>C
|
|
|
NM_001350451.2(RBFOX3):c.568+6G>A
|
|
|
NM_001350451.2(RBFOX3):c.568+8G>T
|
rs2076444289
|
|
NM_001350451.2(RBFOX3):c.593G>A (p.Gly198Asp)
|
|
|
NM_001350451.2(RBFOX3):c.602A>G (p.Tyr201Cys)
|
|
|
NM_001350451.2(RBFOX3):c.604G>A (p.Gly202Arg)
|
rs775017222
|
|
NM_001350451.2(RBFOX3):c.617A>G (p.Tyr206Cys)
|
|
|
NM_001350451.2(RBFOX3):c.622+14C>A
|
rs1028999714
|
|
NM_001350451.2(RBFOX3):c.622+18G>A
|
|
|
NM_001350451.2(RBFOX3):c.622+3dup
|
rs1351338220
|
|
NM_001350451.2(RBFOX3):c.623-13C>T
|
|
|
NM_001350451.2(RBFOX3):c.623-17G>A
|
|
|
NM_001350451.2(RBFOX3):c.623-6C>T
|
|
|
NM_001350451.2(RBFOX3):c.623-7C>T
|
rs2075546067
|
|
NM_001350451.2(RBFOX3):c.638A>G (p.Tyr213Cys)
|
|
|
NM_001350451.2(RBFOX3):c.645C>T (p.Thr215=)
|
rs1201014995
|
|
NM_001350451.2(RBFOX3):c.648C>G (p.Thr216=)
|
rs1222831726
|
|
NM_001350451.2(RBFOX3):c.648C>T (p.Thr216=)
|
|
|
NM_001350451.2(RBFOX3):c.657C>A (p.Ala219=)
|
rs925521413
|
|
NM_001350451.2(RBFOX3):c.661G>C (p.Ala221Pro)
|
rs2146313081
|
|
NM_001350451.2(RBFOX3):c.668G>C (p.Arg223Pro)
|
|
|
NM_001350451.2(RBFOX3):c.676C>A (p.His226Asn)
|
rs2146312862
|
|
NM_001350451.2(RBFOX3):c.679C>A (p.Leu227Ile)
|
rs565220696
|
|
NM_001350451.2(RBFOX3):c.679C>G (p.Leu227Val)
|
|
|
NM_001350451.2(RBFOX3):c.686GCCGGG[3] (p.Arg232_Ala233insGlyArg)
|
|
|
NM_001350451.2(RBFOX3):c.687C>T (p.Gly229=)
|
rs1227562251
|
|
NM_001350451.2(RBFOX3):c.68C>T (p.Ala23Val)
|
rs878854171
|
|
NM_001350451.2(RBFOX3):c.696G>C (p.Arg232=)
|
rs1444545956
|
|
NM_001350451.2(RBFOX3):c.699C>G (p.Ala233=)
|
rs758656116
|
|
NM_001350451.2(RBFOX3):c.714T>G (p.Phe238Leu)
|
rs1599396290
|
|
NM_001350451.2(RBFOX3):c.72G>T (p.Pro24=)
|
rs776796401
|
|
NM_001350451.2(RBFOX3):c.733C>T (p.Pro245Ser)
|
rs1204664048
|
|
NM_001350451.2(RBFOX3):c.738C>A (p.Pro246=)
|
|
|
NM_001350451.2(RBFOX3):c.73C>T (p.Pro25Ser)
|
rs2146999516
|
|
NM_001350451.2(RBFOX3):c.743_750dup (p.Gly251fs)
|
|
|
NM_001350451.2(RBFOX3):c.749dup (p.Tyr250Ter)
|
|
|
NM_001350451.2(RBFOX3):c.755+14C>T
|
rs2075511936
|
|
NM_001350451.2(RBFOX3):c.755+9C>T
|
|
|
NM_001350451.2(RBFOX3):c.755C>A (p.Ala252Glu)
|
|
|
NM_001350451.2(RBFOX3):c.87C>T (p.Pro29=)
|
|
|
NM_001350451.2(RBFOX3):c.8A>G (p.Gln3Arg)
|
|
|
NM_001350451.2(RBFOX3):c.901G>C (p.Val301Leu)
|
|
|
NM_001350451.2(RBFOX3):c.901G>T (p.Val301Leu)
|
|
|
NM_001350451.2(RBFOX3):c.90G>A (p.Thr30=)
|
rs955676022
|
|
NM_001350451.2(RBFOX3):c.90G>T (p.Thr30=)
|
rs955676022
|
|
NM_001350451.2(RBFOX3):c.928G>A (p.Glu310Lys)
|
rs2075332971
|
|
NM_001350451.2(RBFOX3):c.936+14C>A
|
rs1459023595
|
|
NM_001350451.2(RBFOX3):c.936+15G>A
|
rs377444179
|
|
NM_001350451.2(RBFOX3):c.936+15G>C
|
|
|
NM_001350451.2(RBFOX3):c.936+17C>T
|
|
|
NM_001350451.2(RBFOX3):c.936+18G>A
|
|
|
NM_001350451.2(RBFOX3):c.936+18G>T
|
rs1196792536
|
|
NM_001350451.2(RBFOX3):c.936+2del
|
rs2146289066
|
|
NM_001350451.2(RBFOX3):c.937-10T>C
|
rs1599386357
|
|
NM_001350451.2(RBFOX3):c.937-17_937-15del
|
|
|
NM_001350451.2(RBFOX3):c.937-19C>T
|
rs2146255373
|
|
NM_001350451.2(RBFOX3):c.946G>C (p.Ala316Pro)
|
rs1440844625
|
|
NM_001350451.2(RBFOX3):c.949G>A (p.Ala317Thr)
|
rs2146254444
|
|
NM_001350451.2(RBFOX3):c.956G>C (p.Arg319Thr)
|
rs2146254285
|
|
NM_001350451.2(RBFOX3):c.961G>A (p.Ala321Thr)
|
|
|
NM_001350451.2(RBFOX3):c.977C>T (p.Ala326Val)
|
|
|
NM_001350451.2(RBFOX3):c.978G>A (p.Ala326=)
|
rs780865169
|
|
NM_001350451.2(RBFOX3):c.980C>T (p.Ala327Val)
|
|
|
NM_001350451.2(RBFOX3):c.981G>A (p.Ala327=)
|
rs754425963
|
|
NM_001350451.2(RBFOX3):c.993C>T (p.Ser331=)
|
rs551189632
|
|
NM_001350451.2(RBFOX3):c.998+8C>G
|
rs985551378
|
|
NM_001350451.2(RBFOX3):c.998+8C>T
|
rs985551378
|
|
NM_001350451.2(RBFOX3):c.998+9G>A
|
rs79080598
|
|
NM_001350451.2(RBFOX3):c.999-19C>G
|
|
|
NM_001350451.2(RBFOX3):c.999-20C>G
|
|
|
NM_001350451.2(RBFOX3):c.999-24_999-13dup
|
rs2146212338
|
|
NM_001350451.2(RBFOX3):c.999-39_999-15del
|
|
|
NM_001350451.2(RBFOX3):c.999-9C>G
|
rs1311373046
|
|
NM_018100.4(EFHC1):c.1004T>G (p.Leu335Arg)
|
rs1231287887
|
|
NM_018100.4(EFHC1):c.1061A>G (p.Tyr354Cys)
|
rs533695444
|
|
NM_018100.4(EFHC1):c.1088A>G (p.Asp363Gly)
|
rs1765271296
|
|
NM_018100.4(EFHC1):c.1091_1092insGGTATTACCTGATTTGGTAATTTGGTAATTACTGATTTGGTAATTTGGAATT (p.Leu364_Pro365insValLeuProAspLeuValIleTrpTer)
|
rs1765271672
|
|
NM_018100.4(EFHC1):c.1117G>T (p.Glu373Ter)
|
rs1765273374
|
|
NM_018100.4(EFHC1):c.1138-4C>G
|
rs777292013
|
|
NM_018100.4(EFHC1):c.1138-6C>T
|
rs932580766
|
|
NM_018100.4(EFHC1):c.1144C>T (p.Pro382Ser)
|
rs566874147
|
|
NM_018100.4(EFHC1):c.1171del (p.Glu391fs)
|
rs1218368055
|
|
NM_018100.4(EFHC1):c.1180G>A (p.Ala394Thr)
|
rs1562458726
|
|
NM_018100.4(EFHC1):c.1221dup (p.Asp408fs)
|
rs754483740
|
|
NM_018100.4(EFHC1):c.1228A>G (p.Ile410Val)
|
rs1765386430
|
|
NM_018100.4(EFHC1):c.1270G>A (p.Ala424Thr)
|
rs796052418
|
|
NM_018100.4(EFHC1):c.1286C>T (p.Pro429Leu)
|
rs1765607722
|
|
NM_018100.4(EFHC1):c.1293A>C (p.Pro431=)
|
rs1554261597
|
|
NM_018100.4(EFHC1):c.1300A>G (p.Lys434Glu)
|
rs771316611
|
|
NM_018100.4(EFHC1):c.1309A>G (p.Arg437Gly)
|
rs776277918
|
|
NM_018100.4(EFHC1):c.134T>C (p.Val45Ala)
|
rs1764249661
|
|
NM_018100.4(EFHC1):c.1355T>C (p.Phe452Ser)
|
rs1765610593
|
|
NM_018100.4(EFHC1):c.1363C>T (p.Pro455Ser)
|
rs1765610823
|
|
NM_018100.4(EFHC1):c.1370G>A (p.Arg457His)
|
rs369468811
|
|
NM_018100.4(EFHC1):c.1391G>C (p.Gly464Ala)
|
rs2114023582
|
|
NM_018100.4(EFHC1):c.145G>A (p.Gly49Arg)
|
rs760025678
|
|
NM_018100.4(EFHC1):c.1527C>T (p.Asp509=)
|
rs368238981
|
|
NM_018100.4(EFHC1):c.1546A>C (p.Met516Leu)
|
rs768684304
|
|
NM_018100.4(EFHC1):c.1548G>A (p.Met516Ile)
|
rs973650043
|
|
NM_018100.4(EFHC1):c.1549G>T (p.Glu517Ter)
|
rs1765630267
|
|
NM_018100.4(EFHC1):c.1549_1559delinsTTTTGAAATACA (p.Glu517_Ala520delinsPheTer)
|
rs1554261668
|
|
NM_018100.4(EFHC1):c.1560T>C (p.Ala520=)
|
rs1199507059
|
|
NM_018100.4(EFHC1):c.1562C>G (p.Ala521Gly)
|
rs766675010
|
|
NM_018100.4(EFHC1):c.1563C>G (p.Ala521=)
|
rs2114024468
|
|
NM_018100.4(EFHC1):c.1574C>T (p.Pro525Leu)
|
rs1433410236
|
|
NM_018100.4(EFHC1):c.1606C>T (p.Arg536Ter)
|
rs779990464
|
|
NM_018100.4(EFHC1):c.1607G>A (p.Arg536Gln)
|
rs867304706
|
|
NM_018100.4(EFHC1):c.1607G>C (p.Arg536Pro)
|
rs867304706
|
|
NM_018100.4(EFHC1):c.1618G>A (p.Ala540Thr)
|
rs1765633745
|
|
NM_018100.4(EFHC1):c.1622C>G (p.Pro541Arg)
|
rs763151746
|
|
NM_018100.4(EFHC1):c.1626T>C (p.Ala542=)
|
rs2114024594
|
|
NM_018100.4(EFHC1):c.1640+3G>T
|
rs1581847690
|
|
NM_018100.4(EFHC1):c.1641-6C>G
|
rs1554262183
|
|
NM_018100.4(EFHC1):c.165C>G (p.Asn55Lys)
|
rs928396576
|
|
NM_018100.4(EFHC1):c.1663G>A (p.Gly555Ser)
|
rs1581854254
|
|
NM_018100.4(EFHC1):c.1666G>A (p.Val556Met)
|
rs772265107
|
|
NM_018100.4(EFHC1):c.1699C>T (p.Gln567Ter)
|
rs1765867667
|
|
NM_018100.4(EFHC1):c.1739G>C (p.Arg580Pro)
|
rs752701116
|
|
NM_018100.4(EFHC1):c.1746A>G (p.Ala582=)
|
rs1396508732
|
|
NM_018100.4(EFHC1):c.1758T>C (p.Tyr586=)
|
rs1765869162
|
|
NM_018100.4(EFHC1):c.1767A>G (p.Glu589=)
|
rs1562466034
|
|
NM_018100.4(EFHC1):c.1776A>G (p.Gly592=)
|
rs1581854375
|
|
NM_018100.4(EFHC1):c.1786A>G (p.Arg596Gly)
|
rs1765870228
|
|
NM_018100.4(EFHC1):c.1827A>G (p.Pro609=)
|
rs2114037054
|
|
NM_018100.4(EFHC1):c.1841_1851+13del
|
rs775583843
|
|
NM_018100.4(EFHC1):c.1851+8T>A
|
rs1765873500
|
|
NM_018100.4(EFHC1):c.1863G>A (p.Met621Ile)
|
rs2114039449
|
|
NM_018100.4(EFHC1):c.1866C>T (p.Cys622=)
|
rs1554262324
|
|
NM_018100.4(EFHC1):c.1879G>A (p.Gly627Ser)
|
rs758464930
|
|
NM_018100.4(EFHC1):c.1886T>G (p.Ile629Ser)
|
rs199604518
|
|
NM_018100.4(EFHC1):c.194T>C (p.Leu65Ser)
|
rs757990962
|
|
NM_018100.4(EFHC1):c.206C>T (p.Ala69Val)
|
rs1764251712
|
|
NM_018100.4(EFHC1):c.21T>G (p.His7Gln)
|
rs775530837
|
|
NM_018100.4(EFHC1):c.226C>T (p.Gln76Ter)
|
rs11552772
|
|
NM_018100.4(EFHC1):c.227A>G (p.Gln76Arg)
|
rs1764252445
|
|
NM_018100.4(EFHC1):c.237A>T (p.Gln79His)
|
rs2113966975
|
|
NM_018100.4(EFHC1):c.241C>T (p.Pro81Ser)
|
rs1562442253
|
|
NM_018100.4(EFHC1):c.277G>C (p.Asp93His)
|
rs1764254615
|
|
NM_018100.4(EFHC1):c.28C>G (p.Pro10Ala)
|
rs1764162488
|
|
NM_018100.4(EFHC1):c.336G>A (p.Glu112=)
|
rs1764580689
|
|
NM_018100.4(EFHC1):c.364_369del (p.Ile122_Tyr123del)
|
rs1764582038
|
|
NM_018100.4(EFHC1):c.371A>G (p.Tyr124Cys)
|
rs757440981
|
|
NM_018100.4(EFHC1):c.378A>G (p.Leu126=)
|
rs2113979351
|
|
NM_018100.4(EFHC1):c.379G>C (p.Glu127Gln)
|
rs1554258778
|
|
NM_018100.4(EFHC1):c.388A>G (p.Ser130Gly)
|
rs1481620865
|
|
NM_018100.4(EFHC1):c.40G>A (p.Gly14Ser)
|
rs1554257650
|
|
NM_018100.4(EFHC1):c.452G>T (p.Arg151Leu)
|
rs191656603
|
|
NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)
|
rs3804506
|
|
NM_018100.4(EFHC1):c.490C>T (p.His164Tyr)
|
rs995402027
|
|
NM_018100.4(EFHC1):c.504A>G (p.Leu168=)
|
rs1405675667
|
|
NM_018100.4(EFHC1):c.528T>A (p.Ile176=)
|
rs2113979621
|
|
NM_018100.4(EFHC1):c.530A>T (p.Tyr177Phe)
|
rs1764588785
|
|
NM_018100.4(EFHC1):c.558_559del (p.Cys186_Asp187delinsTer)
|
rs1562447137
|
|
NM_018100.4(EFHC1):c.595A>G (p.Ile199Val)
|
rs759793242
|
|
NM_018100.4(EFHC1):c.598G>C (p.Glu200Gln)
|
rs767704811
|
|
NM_018100.4(EFHC1):c.602T>G (p.Leu201Ter)
|
rs1764941998
|
|
NM_018100.4(EFHC1):c.637A>G (p.Thr213Ala)
|
rs201379297
|
|
NM_018100.4(EFHC1):c.666_674delinsAAG (p.Tyr223_Thr225delinsSer)
|
rs1554259746
|
|
NM_018100.4(EFHC1):c.672C>A (p.Val224=)
|
|
|
NM_018100.4(EFHC1):c.678A>T (p.Pro226=)
|
rs1060504898
|
|
NM_018100.4(EFHC1):c.682_692del (p.Asp228fs)
|
rs775980459
|
|
NM_018100.4(EFHC1):c.710C>A (p.Thr237Asn)
|
rs765821468
|
|
NM_018100.4(EFHC1):c.723+106C>T
|
rs190021570
|
|
NM_018100.4(EFHC1):c.723+66del
|
rs142210037
|
|
NM_018100.4(EFHC1):c.749A>T (p.Asp250Val)
|
rs1562453181
|
|
NM_018100.4(EFHC1):c.755C>G (p.Thr252Arg)
|
rs747450415
|
|
NM_018100.4(EFHC1):c.757G>A (p.Asp253Asn)
|
rs137852778
|
|
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys)
|
rs886061629
|
|
NM_018100.4(EFHC1):c.810T>G (p.Asp270Glu)
|
rs796052413
|
|
NM_018100.4(EFHC1):c.816G>C (p.Thr272=)
|
rs765401978
|
|
NM_018100.4(EFHC1):c.819G>A (p.Val273=)
|
rs1764987409
|
|
NM_018100.4(EFHC1):c.840A>G (p.Glu280=)
|
rs1764987965
|
|
NM_018100.4(EFHC1):c.847G>A (p.Asp283Asn)
|
rs1284999394
|
|
NM_018100.4(EFHC1):c.879C>G (p.Asn293Lys)
|
rs1562453330
|
|
NM_018100.4(EFHC1):c.915A>G (p.Ala305=)
|
rs1060503381
|
|
NM_018100.4(EFHC1):c.917-6T>C
|
|
|
NM_018100.4(EFHC1):c.917-7A>G
|
rs1266698847
|
|
NM_018723.4(RBFOX1):c.1003C>T (p.Arg335Ter)
|
rs1312108862
|
|
NM_018723.4(RBFOX1):c.1016C>A (p.Ala339Asp)
|
rs1465514323
|
|
NM_018723.4(RBFOX1):c.1016C>T (p.Ala339Val)
|
|
|
NM_018723.4(RBFOX1):c.1033G>A (p.Ala345Thr)
|
rs150941982
|
|
NM_018723.4(RBFOX1):c.1033G>C (p.Ala345Pro)
|
rs150941982
|
|
NM_018723.4(RBFOX1):c.103A>G (p.Asn35Asp)
|
|
|
NM_018723.4(RBFOX1):c.1040C>T (p.Ala347Val)
|
rs1555812114
|
|
NM_018723.4(RBFOX1):c.1042C>A (p.Pro348Thr)
|
|
|
NM_018723.4(RBFOX1):c.1046C>A (p.Ala349Asp)
|
rs2083432188
|
|
NM_018723.4(RBFOX1):c.1048C>T (p.Pro350Ser)
|
|
|
NM_018723.4(RBFOX1):c.104A>G (p.Asn35Ser)
|
|
|
NM_018723.4(RBFOX1):c.104_105delinsCG (p.Asn35Thr)
|
|
|
NM_018723.4(RBFOX1):c.1058_1060del (p.Gly353del)
|
rs774848304
|
|
NM_018723.4(RBFOX1):c.105C>T (p.Asn35=)
|
|
|
NM_018723.4(RBFOX1):c.1060G>A (p.Val354Ile)
|
rs138704494
|
|
NM_018723.4(RBFOX1):c.1060G>C (p.Val354Leu)
|
|
|
NM_018723.4(RBFOX1):c.1060G>T (p.Val354Phe)
|
rs138704494
|
|
NM_018723.4(RBFOX1):c.1062T>C (p.Val354=)
|
|
|
NM_018723.4(RBFOX1):c.1071+11G>A
|
rs191016584
|
|
NM_018723.4(RBFOX1):c.1071+11G>C
|
rs191016584
|
|
NM_018723.4(RBFOX1):c.1071+17C>G
|
|
|
NM_018723.4(RBFOX1):c.1071+18C>G
|
rs751549203
|
|
NM_018723.4(RBFOX1):c.1071+5G>T
|
rs1387824991
|
|
NM_018723.4(RBFOX1):c.1072-2A>G
|
|
|
NM_018723.4(RBFOX1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_018723.4(RBFOX1):c.1089G>A (p.Leu363=)
|
|
|
NM_018723.4(RBFOX1):c.1089G>C (p.Leu363Phe)
|
rs776822373
|
|
NM_018723.4(RBFOX1):c.109A>G (p.Ile37Val)
|
rs781321986
|
|
NM_018723.4(RBFOX1):c.1101G>C (p.Lys367Asn)
|
|
|
NM_018723.4(RBFOX1):c.1146G>A (p.Leu382=)
|
rs756984329
|
|
NM_018723.4(RBFOX1):c.114C>A (p.Pro38=)
|
rs376877653
|
|
NM_018723.4(RBFOX1):c.114C>G (p.Pro38=)
|
rs376877653
|
|
NM_018723.4(RBFOX1):c.1151C>A (p.Ala384Asp)
|
|
|
NM_018723.4(RBFOX1):c.1162C>T (p.Arg388Ter)
|
rs780406377
|
|
NM_018723.4(RBFOX1):c.1163G>A (p.Arg388Gln)
|
|
|
NM_018723.4(RBFOX1):c.1194A>G (p.Ter398=)
|
rs2148629483
|
|
NM_018723.4(RBFOX1):c.124A>C (p.Thr42Pro)
|
|
|
NM_018723.4(RBFOX1):c.124A>G (p.Thr42Ala)
|
|
|
NM_018723.4(RBFOX1):c.125C>G (p.Thr42Arg)
|
rs146499343
|
|
NM_018723.4(RBFOX1):c.127G>T (p.Ala43Ser)
|
|
|
NM_018723.4(RBFOX1):c.132T>A (p.Pro44=)
|
rs1263847911
|
|
NM_018723.4(RBFOX1):c.137C>T (p.Pro46Leu)
|
rs113298071
|
|
NM_018723.4(RBFOX1):c.158C>G (p.Thr53Arg)
|
rs1600686165
|
|
NM_018723.4(RBFOX1):c.166A>G (p.Thr56Ala)
|
|
|
NM_018723.4(RBFOX1):c.171G>A (p.Thr57=)
|
|
|
NM_018723.4(RBFOX1):c.182A>C (p.His61Pro)
|
rs1037124321
|
|
NM_018723.4(RBFOX1):c.185C>T (p.Thr62Ile)
|
|
|
NM_018723.4(RBFOX1):c.196T>C (p.Tyr66His)
|
rs1600687118
|
|
NM_018723.4(RBFOX1):c.199C>T (p.Pro67Ser)
|
rs143573994
|
|
NM_018723.4(RBFOX1):c.201T>A (p.Pro67=)
|
rs757485949
|
|
NM_018723.4(RBFOX1):c.204C>T (p.Pro68=)
|
|
|
NM_018723.4(RBFOX1):c.205G>A (p.Ala69Thr)
|
|
|
NM_018723.4(RBFOX1):c.206C>G (p.Ala69Gly)
|
|
|
NM_018723.4(RBFOX1):c.210G>A (p.Gln70=)
|
rs2076811567
|
|
NM_018723.4(RBFOX1):c.210G>T (p.Gln70His)
|
rs2076811567
|
|
NM_018723.4(RBFOX1):c.219C>A (p.Ser73=)
|
|
|
NM_018723.4(RBFOX1):c.224A>C (p.Gln75Pro)
|
rs2152189230
|
|
NM_018723.4(RBFOX1):c.230C>T (p.Pro77Leu)
|
|
|
NM_018723.4(RBFOX1):c.232G>T (p.Ala78Ser)
|
|
|
NM_018723.4(RBFOX1):c.233C>G (p.Ala78Gly)
|
rs761205127
|
|
NM_018723.4(RBFOX1):c.234G>A (p.Ala78=)
|
|
|
NM_018723.4(RBFOX1):c.235G>C (p.Asp79His)
|
rs764702003
|
|
NM_018723.4(RBFOX1):c.238A>G (p.Thr80Ala)
|
|
|
NM_018723.4(RBFOX1):c.240G>A (p.Thr80=)
|
|
|
NM_018723.4(RBFOX1):c.245C>T (p.Ala82Val)
|
rs780839692
|
|
NM_018723.4(RBFOX1):c.252C>A (p.Thr84=)
|
rs752506752
|
|
NM_018723.4(RBFOX1):c.257C>G (p.Ser86Cys)
|
rs2152190628
|
|
NM_018723.4(RBFOX1):c.257C>T (p.Ser86Phe)
|
|
|
NM_018723.4(RBFOX1):c.265G>A (p.Ala89Thr)
|
|
|
NM_018723.4(RBFOX1):c.270+10C>T
|
rs113881725
|
|
NM_018723.4(RBFOX1):c.270+11G>A
|
|
|
NM_018723.4(RBFOX1):c.270+11G>T
|
rs371402357
|
|
NM_018723.4(RBFOX1):c.270+19_270+22dup
|
|
|
NM_018723.4(RBFOX1):c.270+20A>G
|
|
|
NM_018723.4(RBFOX1):c.270+5G>T
|
rs2076823058
|
|
NM_018723.4(RBFOX1):c.270+8G>A
|
|
|
NM_018723.4(RBFOX1):c.271-100_271-11del
|
|
|
NM_018723.4(RBFOX1):c.271-13C>T
|
|
|
NM_018723.4(RBFOX1):c.28-10G>T
|
|
|
NM_018723.4(RBFOX1):c.28-11del
|
|
|
NM_018723.4(RBFOX1):c.28-185041C>A
|
|
|
NM_018723.4(RBFOX1):c.28-185043T>C
|
|
|
NM_018723.4(RBFOX1):c.28-185043_28-185040del
|
rs767678711
|
|
NM_018723.4(RBFOX1):c.28-185051A>T
|
|
|
NM_018723.4(RBFOX1):c.28-20G>T
|
|
|
NM_018723.4(RBFOX1):c.28-3C>T
|
rs2076775196
|
|
NM_018723.4(RBFOX1):c.285A>G (p.Ala95=)
|
rs754737409
|
|
NM_018723.4(RBFOX1):c.289C>G (p.Pro97Ala)
|
|
|
NM_018723.4(RBFOX1):c.290C>A (p.Pro97Gln)
|
|
|
NM_018723.4(RBFOX1):c.294G>A (p.Thr98=)
|
|
|
NM_018723.4(RBFOX1):c.295G>A (p.Asp99Asn)
|
|
|
NM_018723.4(RBFOX1):c.297T>C (p.Asp99=)
|
|
|
NM_018723.4(RBFOX1):c.30_37del (p.Asn11fs)
|
|
|
NM_018723.4(RBFOX1):c.311C>G (p.Thr104Arg)
|
|
|
NM_018723.4(RBFOX1):c.327C>T (p.Asn109=)
|
|
|
NM_018723.4(RBFOX1):c.339G>A (p.Lys113=)
|
rs760846272
|
|
NM_018723.4(RBFOX1):c.347C>T (p.Pro116Leu)
|
rs905562885
|
|
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln)
|
rs1057521725
|
|
NM_018723.4(RBFOX1):c.357G>C (p.Leu119=)
|
rs751076623
|
|
NM_018723.4(RBFOX1):c.386G>A (p.Arg129Gln)
|
|
|
NM_018723.4(RBFOX1):c.396C>A (p.Asp132Glu)
|
rs1242620682
|
|
NM_018723.4(RBFOX1):c.400A>T (p.Arg134Ter)
|
|
|
NM_018723.4(RBFOX1):c.413G>C (p.Gly138Ala)
|
rs747242541
|
|
NM_018723.4(RBFOX1):c.414+16C>A
|
|
|
NM_018723.4(RBFOX1):c.414+20C>G
|
|
|
NM_018723.4(RBFOX1):c.414+5G>A
|
rs2152836590
|
|
NM_018723.4(RBFOX1):c.415-14C>A
|
rs766827645
|
|
NM_018723.4(RBFOX1):c.415-14C>T
|
rs766827645
|
|
NM_018723.4(RBFOX1):c.415-19T>C
|
|
|
NM_018723.4(RBFOX1):c.415-20A>G
|
|
|
NM_018723.4(RBFOX1):c.415-20A>T
|
rs1327343028
|
|
NM_018723.4(RBFOX1):c.424A>G (p.Lys142Glu)
|
|
|
NM_018723.4(RBFOX1):c.427A>G (p.Ile143Val)
|
|
|
NM_018723.4(RBFOX1):c.456G>A (p.Glu152=)
|
rs1478825837
|
|
NM_018723.4(RBFOX1):c.45C>T (p.Ala15=)
|
rs1351528483
|
|
NM_018723.4(RBFOX1):c.460G>C (p.Gly154Arg)
|
rs2094181320
|
|
NM_018723.4(RBFOX1):c.468+10_468+11del
|
rs768579064
|
|
NM_018723.4(RBFOX1):c.468+18C>G
|
|
|
NM_018723.4(RBFOX1):c.469-17C>T
|
rs2152948167
|
|
NM_018723.4(RBFOX1):c.469-8G>A
|
rs763792559
|
|
NM_018723.4(RBFOX1):c.469G>A (p.Gly157Arg)
|
|
|
NM_018723.4(RBFOX1):c.47C>T (p.Ala16Val)
|
rs750798420
|
|
NM_018723.4(RBFOX1):c.481G>A (p.Val161Ile)
|
|
|
NM_018723.4(RBFOX1):c.490G>T (p.Glu164Ter)
|
rs2094642630
|
|
NM_018723.4(RBFOX1):c.499G>A (p.Ala167Thr)
|
rs2094642843
|
|
NM_018723.4(RBFOX1):c.501C>T (p.Ala167=)
|
|
|
NM_018723.4(RBFOX1):c.507G>C (p.Ala169=)
|
rs763250831
|
|
NM_018723.4(RBFOX1):c.51C>A (p.Ala17=)
|
rs139265655
|
|
NM_018723.4(RBFOX1):c.522G>C (p.Glu174Asp)
|
rs760159651
|
|
NM_018723.4(RBFOX1):c.531C>T (p.His177=)
|
rs1193035983
|
|
NM_018723.4(RBFOX1):c.537C>G (p.Thr179=)
|
rs756360831
|
|
NM_018723.4(RBFOX1):c.543A>G (p.Val181=)
|
rs2152948676
|
|
NM_018723.4(RBFOX1):c.55G>A (p.Asp19Asn)
|
|
|
NM_018723.4(RBFOX1):c.562-15T>A
|
|
|
NM_018723.4(RBFOX1):c.562-17G>C
|
|
|
NM_018723.4(RBFOX1):c.562-8G>T
|
rs1283928972
|
|
NM_018723.4(RBFOX1):c.562-9T>C
|
rs1555648980
|
|
NM_018723.4(RBFOX1):c.573C>T (p.Ala191=)
|
|
|
NM_018723.4(RBFOX1):c.584T>C (p.Val195Ala)
|
rs2152958287
|
|
NM_018723.4(RBFOX1):c.585A>T (p.Val195=)
|
rs368983711
|
|
NM_018723.4(RBFOX1):c.588G>C (p.Met196Ile)
|
|
|
NM_018723.4(RBFOX1):c.594_597del (p.Asn198fs)
|
rs2094760665
|
|
NM_018723.4(RBFOX1):c.597A>C (p.Lys199Asn)
|
rs2152958333
|
|
NM_018723.4(RBFOX1):c.610C>G (p.Pro204Ala)
|
rs1360100229
|
|
NM_018723.4(RBFOX1):c.613dup (p.Tyr205fs)
|
|
|
NM_018723.4(RBFOX1):c.618A>G (p.Thr206=)
|
|
|
NM_018723.4(RBFOX1):c.622+11A>T
|
|
|
NM_018723.4(RBFOX1):c.622+3_622+4del
|
|
|
NM_018723.4(RBFOX1):c.622+4A>G
|
|
|
NM_018723.4(RBFOX1):c.622+5G>T
|
|
|
NM_018723.4(RBFOX1):c.623-16G>T
|
|
|
NM_018723.4(RBFOX1):c.629A>G (p.Lys210Arg)
|
rs2095316869
|
|
NM_018723.4(RBFOX1):c.639A>G (p.Pro213=)
|
rs1389267525
|
|
NM_018723.4(RBFOX1):c.640G>A (p.Val214Ile)
|
rs372085042
|
|
NM_018723.4(RBFOX1):c.676+1G>T
|
rs2141262938
|
|
NM_018723.4(RBFOX1):c.676+4_676+5del
|
|
|
NM_018723.4(RBFOX1):c.676+7_676+8del
|
|
|
NM_018723.4(RBFOX1):c.677-13C>T
|
rs777768764
|
|
NM_018723.4(RBFOX1):c.677-20TC[5]
|
|
|
NM_018723.4(RBFOX1):c.677-4G>T
|
rs759738790
|
|
NM_018723.4(RBFOX1):c.677-9C>G
|
|
|
NM_018723.4(RBFOX1):c.680C>T (p.Thr227Met)
|
rs145006582
|
|
NM_018723.4(RBFOX1):c.687G>A (p.Leu229=)
|
rs2060799020
|
|
NM_018723.4(RBFOX1):c.724A>G (p.Ser242Gly)
|
|
|
NM_018723.4(RBFOX1):c.728C>G (p.Ala243Gly)
|
|
|
NM_018723.4(RBFOX1):c.72T>A (p.Pro24=)
|
rs1555542676
|
|
NM_018723.4(RBFOX1):c.742G>C (p.Val248Leu)
|
rs757319815
|
|
NM_018723.4(RBFOX1):c.757+14C>G
|
|
|
NM_018723.4(RBFOX1):c.757+19C>G
|
|
|
NM_018723.4(RBFOX1):c.757+6C>A
|
rs1435955739
|
|
NM_018723.4(RBFOX1):c.758-10T>C
|
rs2144803234
|
|
NM_018723.4(RBFOX1):c.758-12C>G
|
|
|
NM_018723.4(RBFOX1):c.758-14_758-10del
|
rs2144802781
|
|
NM_018723.4(RBFOX1):c.758-15_758-14insTCCC
|
|
|
NM_018723.4(RBFOX1):c.758-18_758-17insGT
|
|
|
NM_018723.4(RBFOX1):c.758-19_758-18insGC
|
rs772354139
|
|
NM_018723.4(RBFOX1):c.758-4G>A
|
rs112339093
|
|
NM_018723.4(RBFOX1):c.758-4G>T
|
rs112339093
|
|
NM_018723.4(RBFOX1):c.758-5C>G
|
|
|
NM_018723.4(RBFOX1):c.758-5C>T
|
rs368263619
|
|
NM_018723.4(RBFOX1):c.758-5_758-4delinsTT
|
rs1060504699
|
|
NM_018723.4(RBFOX1):c.758-6C>T
|
|
|
NM_018723.4(RBFOX1):c.758-9G>T
|
rs2065660205
|
|
NM_018723.4(RBFOX1):c.770C>G (p.Pro257Arg)
|
|
|
NM_018723.4(RBFOX1):c.786C>G (p.Thr262=)
|
rs755253534
|
|
NM_018723.4(RBFOX1):c.786C>T (p.Thr262=)
|
|
|
NM_018723.4(RBFOX1):c.787G>A (p.Ala263Thr)
|
|
|
NM_018723.4(RBFOX1):c.790G>A (p.Ala264Thr)
|
|
|
NM_018723.4(RBFOX1):c.804A>T (p.Arg268=)
|
|
|
NM_018723.4(RBFOX1):c.810G>A (p.Ala270=)
|
|
|
NM_018723.4(RBFOX1):c.816G>A (p.Leu272=)
|
|
|
NM_018723.4(RBFOX1):c.819A>T (p.Arg273=)
|
|
|
NM_018723.4(RBFOX1):c.823C>T (p.Arg275Cys)
|
|
|
NM_018723.4(RBFOX1):c.828_859del (p.Arg277fs)
|
rs2144810454
|
|
NM_018723.4(RBFOX1):c.829C>T (p.Arg277Cys)
|
rs1189994954
|
|
NM_018723.4(RBFOX1):c.833C>T (p.Thr278Ile)
|
rs2065679298
|
|
NM_018723.4(RBFOX1):c.835G>A (p.Val279Met)
|
|
|
NM_018723.4(RBFOX1):c.839A>G (p.Tyr280Cys)
|
rs2144812486
|
|
NM_018723.4(RBFOX1):c.853G>A (p.Ala285Thr)
|
rs544967209
|
|
NM_018723.4(RBFOX1):c.853G>T (p.Ala285Ser)
|
|
|
NM_018723.4(RBFOX1):c.855C>T (p.Ala285=)
|
|
|
NM_018723.4(RBFOX1):c.858G>A (p.Ala286=)
|
rs1060504700
|
|
NM_018723.4(RBFOX1):c.866C>T (p.Pro289Leu)
|
|
|
NM_018723.4(RBFOX1):c.870C>T (p.Pro290=)
|
|
|
NM_018723.4(RBFOX1):c.871C>T (p.Pro291Ser)
|
rs768195911
|
|
NM_018723.4(RBFOX1):c.872C>T (p.Pro291Leu)
|
|
|
NM_018723.4(RBFOX1):c.876C>G (p.Ile292Met)
|
rs997305923
|
|
NM_018723.4(RBFOX1):c.876C>T (p.Ile292=)
|
|
|
NM_018723.4(RBFOX1):c.878C>A (p.Pro293Gln)
|
rs1157311700
|
|
NM_018723.4(RBFOX1):c.879G>A (p.Pro293=)
|
rs200006523
|
|
NM_018723.4(RBFOX1):c.879G>C (p.Pro293=)
|
rs200006523
|
|
NM_018723.4(RBFOX1):c.890+15C>G
|
|
|
NM_018723.4(RBFOX1):c.890+15C>T
|
|
|
NM_018723.4(RBFOX1):c.890+20G>T
|
|
|
NM_018723.4(RBFOX1):c.890+8G>C
|
|
|
NM_018723.4(RBFOX1):c.92C>A (p.Ala31Asp)
|
rs761469568
|
|
NM_018723.4(RBFOX1):c.931-12C>T
|
|
|
NM_018723.4(RBFOX1):c.931-18T>C
|
|
|
NM_018723.4(RBFOX1):c.931-20_931-19inv
|
|
|
NM_018723.4(RBFOX1):c.931-3T>C
|
rs1597853857
|
|
NM_018723.4(RBFOX1):c.931-5160C>A
|
|
|
NM_018723.4(RBFOX1):c.931-5161A>G
|
rs750150151
|
|
NM_018723.4(RBFOX1):c.931-5163C>G
|
rs756935023
|
|
NM_018723.4(RBFOX1):c.931-5170G>A
|
rs763604762
|
|
NM_018723.4(RBFOX1):c.931-5221A>G
|
|
|
NM_018723.4(RBFOX1):c.931-5226T>A
|
rs768777551
|
|
NM_018723.4(RBFOX1):c.931-5226T>G
|
|
|
NM_018723.4(RBFOX1):c.931-8T>C
|
|
|
NM_018723.4(RBFOX1):c.933T>C (p.Gly311=)
|
|
|
NM_018723.4(RBFOX1):c.934G>T (p.Gly312Cys)
|
rs2073403458
|
|
NM_018723.4(RBFOX1):c.940G>A (p.Ala314Thr)
|
|
|
NM_018723.4(RBFOX1):c.944C>T (p.Ala315Val)
|
|
|
NM_018723.4(RBFOX1):c.948C>G (p.Tyr316Ter)
|
|
|
NM_018723.4(RBFOX1):c.949C>T (p.Arg317Cys)
|
rs2146426013
|
|
NM_018723.4(RBFOX1):c.954C>G (p.Tyr318Ter)
|
|
|
NM_018723.4(RBFOX1):c.955G>T (p.Ala319Ser)
|
rs199644500
|
|
NM_018723.4(RBFOX1):c.964_969del (p.Thr322_Pro323del)
|
rs2146427156
|
|
NM_018723.4(RBFOX1):c.973A>G (p.Thr325Ala)
|
|
|
NM_018723.4(RBFOX1):c.978C>A (p.Ala326=)
|
rs146803665
|
|
NM_018723.4(RBFOX1):c.978C>T (p.Ala326=)
|
rs146803665
|
|
NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del)
|
rs974157467
|
|
NM_018723.4(RBFOX1):c.984C>T (p.Ala328=)
|
rs1312874997
|
|
NM_018723.4(RBFOX1):c.988A>G (p.Ser330Gly)
|
|
|
NM_018723.4(RBFOX1):c.995+16C>T
|
|
|
NM_018723.4(RBFOX1):c.995+2T>A
|
rs1597855236
|
|
NM_018723.4(RBFOX1):c.996-13A>G
|
|
|
NM_018723.4(RBFOX1):c.996-14T>G
|
|
|
NM_018723.4(RBFOX1):c.996-15C>G
|
|
|
NM_018723.4(RBFOX1):c.996-18C>T
|
|
|
NM_018723.4(RBFOX1):c.99G>A (p.Pro33=)
|
|
|
NM_021098.3(CACNA1H):c.1008C>G (p.Ala336=)
|
rs1183381904
|
|
NM_021098.3(CACNA1H):c.1008C>T (p.Ala336=)
|
|
|
NM_021098.3(CACNA1H):c.1012A>G (p.Ile338Val)
|
rs759899460
|
|
NM_021098.3(CACNA1H):c.1017C>T (p.Asn339=)
|
|
|
NM_021098.3(CACNA1H):c.1029C>G (p.Tyr343Ter)
|
rs375894182
|
|
NM_021098.3(CACNA1H):c.1033A>G (p.Asn345Asp)
|
rs2141243964
|
|
NM_021098.3(CACNA1H):c.1038G>T (p.Val346=)
|
|
|
NM_021098.3(CACNA1H):c.107C>T (p.Pro36Leu)
|
|
|
NM_021098.3(CACNA1H):c.1083C>T (p.Phe361=)
|
|
|
NM_021098.3(CACNA1H):c.1084G>A (p.Asp362Asn)
|
rs1567508639
|
|
NM_021098.3(CACNA1H):c.1092C>T (p.Ile364=)
|
|
|
NM_021098.3(CACNA1H):c.1095C>T (p.Gly365=)
|
rs1269503775
|
|
NM_021098.3(CACNA1H):c.1097A>G (p.Tyr366Cys)
|
rs1567508720
|
|
NM_021098.3(CACNA1H):c.1109C>T (p.Ala370Val)
|
|
|
NM_021098.3(CACNA1H):c.1113C>T (p.Ile371=)
|
|
|
NM_021098.3(CACNA1H):c.1119+13A>T
|
rs1967734739
|
|
NM_021098.3(CACNA1H):c.1119+7G>A
|
rs772848426
|
|
NM_021098.3(CACNA1H):c.111A>G (p.Gly37=)
|
|
|
NM_021098.3(CACNA1H):c.1120-10G>A
|
|
|
NM_021098.3(CACNA1H):c.1120-11T>C
|
|
|
NM_021098.3(CACNA1H):c.1120-3C>A
|
|
|
NM_021098.3(CACNA1H):c.1120-3del
|
rs748730819
|
|
NM_021098.3(CACNA1H):c.1120-3dup
|
rs748730819
|
|
NM_021098.3(CACNA1H):c.1120-5C>G
|
rs188397970
|
|
NM_021098.3(CACNA1H):c.1120-5C>T
|
rs188397970
|
|
NM_021098.3(CACNA1H):c.1120-9C>T
|
rs978309224
|
|
NM_021098.3(CACNA1H):c.113_114delinsTT (p.Arg38Leu)
|
|
|
NM_021098.3(CACNA1H):c.1143G>A (p.Val381=)
|
|
|
NM_021098.3(CACNA1H):c.1149C>T (p.Ile383=)
|
|
|
NM_021098.3(CACNA1H):c.1161C>T (p.Val387=)
|
rs973334540
|
|
NM_021098.3(CACNA1H):c.1170C>T (p.Ala390=)
|
|
|
NM_021098.3(CACNA1H):c.1175C>G (p.Ser392Ter)
|
|
|
NM_021098.3(CACNA1H):c.1175C>T (p.Ser392Leu)
|
|
|
NM_021098.3(CACNA1H):c.1176A>G (p.Ser392=)
|
|
|
NM_021098.3(CACNA1H):c.1181A>G (p.Tyr394Cys)
|
|
|
NM_021098.3(CACNA1H):c.1182C>T (p.Tyr394=)
|
|
|
NM_021098.3(CACNA1H):c.1185C>T (p.Asn395=)
|
|
|
NM_021098.3(CACNA1H):c.1188C>T (p.Phe396=)
|
|
|
NM_021098.3(CACNA1H):c.1191C>A (p.Ile397=)
|
|
|
NM_021098.3(CACNA1H):c.1191C>T (p.Ile397=)
|
rs765469156
|
|
NM_021098.3(CACNA1H):c.1201C>G (p.Leu401Val)
|
rs551581496
|
|
NM_021098.3(CACNA1H):c.1201C>T (p.Leu401=)
|
|
|
NM_021098.3(CACNA1H):c.1203G>C (p.Leu401=)
|
rs1157849968
|
|
NM_021098.3(CACNA1H):c.1206C>T (p.Leu402=)
|
rs764371721
|
|
NM_021098.3(CACNA1H):c.1212+11G>A
|
|
|
NM_021098.3(CACNA1H):c.1212+12C>T
|
rs8060577
|
|
NM_021098.3(CACNA1H):c.1213-10C>G
|
rs373660548
|
|
NM_021098.3(CACNA1H):c.1213-10C>T
|
|
|
NM_021098.3(CACNA1H):c.1213-13G>C
|
rs747424487
|
|
NM_021098.3(CACNA1H):c.1213-18C>A
|
rs57432507
|
|
NM_021098.3(CACNA1H):c.1213-19C>G
|
|
|
NM_021098.3(CACNA1H):c.1213-4A>G
|
|
|
NM_021098.3(CACNA1H):c.1215G>A (p.Val405=)
|
|
|
NM_021098.3(CACNA1H):c.1227C>T (p.Phe409=)
|
|
|
NM_021098.3(CACNA1H):c.1235A>G (p.Asn412Ser)
|
rs779840429
|
|
NM_021098.3(CACNA1H):c.1260G>A (p.Thr420=)
|
rs58198225
|
|
NM_021098.3(CACNA1H):c.1260G>T (p.Thr420=)
|
|
|
NM_021098.3(CACNA1H):c.126G>C (p.Arg42=)
|
rs2151603792
|
|
NM_021098.3(CACNA1H):c.1282C>T (p.Arg428Trp)
|
rs988908130
|
|
NM_021098.3(CACNA1H):c.1283G>A (p.Arg428Gln)
|
rs1452763580
|
|
NM_021098.3(CACNA1H):c.1288_1289del (p.Gln431fs)
|
rs1596408210
|
|
NM_021098.3(CACNA1H):c.128G>T (p.Gly43Val)
|
rs1227599612
|
|
NM_021098.3(CACNA1H):c.129G>C (p.Gly43=)
|
|
|
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
|
|
|
NM_021098.3(CACNA1H):c.1314A>G (p.Ala438=)
|
|
|
NM_021098.3(CACNA1H):c.1318C>T (p.His440Tyr)
|
|
|
NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe)
|
rs983437887
|
|
NM_021098.3(CACNA1H):c.1320C>T (p.His440=)
|
|
|
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser)
|
rs771750212
|
|
NM_021098.3(CACNA1H):c.1330G>A (p.Asp444Asn)
|
|
|
NM_021098.3(CACNA1H):c.1332C>G (p.Asp444Glu)
|
rs746803902
|
|
NM_021098.3(CACNA1H):c.1338G>A (p.Thr446=)
|
|
|
NM_021098.3(CACNA1H):c.1338G>C (p.Thr446=)
|
|
|
NM_021098.3(CACNA1H):c.1343C>A (p.Ala448Asp)
|
|
|
NM_021098.3(CACNA1H):c.1343C>G (p.Ala448Gly)
|
rs770949848
|
|
NM_021098.3(CACNA1H):c.1344C>G (p.Ala448=)
|
|
|
NM_021098.3(CACNA1H):c.1344C>T (p.Ala448=)
|
|
|
NM_021098.3(CACNA1H):c.1350C>T (p.Phe450=)
|
|
|
NM_021098.3(CACNA1H):c.135G>A (p.Glu45=)
|
|
|
NM_021098.3(CACNA1H):c.135G>T (p.Glu45Asp)
|
rs1371342942
|
|
NM_021098.3(CACNA1H):c.1360G>C (p.Gly454Arg)
|
|
|
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn)
|
rs1041969243
|
|
NM_021098.3(CACNA1H):c.1386G>C (p.Lys462Asn)
|
rs2141256263
|
|
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser)
|
|
|
NM_021098.3(CACNA1H):c.1399A>G (p.Ile467Val)
|
rs1967962877
|
|
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)
|
rs948561024
|
|
NM_021098.3(CACNA1H):c.13G>T (p.Ala5Ser)
|
rs948561024
|
|
NM_021098.3(CACNA1H):c.1401A>G (p.Ile467Met)
|
rs2141256394
|
|
NM_021098.3(CACNA1H):c.140G>T (p.Gly47Val)
|
rs1555498163
|
|
NM_021098.3(CACNA1H):c.1426T>C (p.Leu476=)
|
|
|
NM_021098.3(CACNA1H):c.1426T>G (p.Leu476Val)
|
rs918496310
|
|
NM_021098.3(CACNA1H):c.1432C>T (p.Leu478Phe)
|
rs911317802
|
|
NM_021098.3(CACNA1H):c.1434C>G (p.Leu478=)
|
|
|
NM_021098.3(CACNA1H):c.1438G>A (p.Ala480Thr)
|
|
|
NM_021098.3(CACNA1H):c.1447C>G (p.Gln483Glu)
|
|
|
NM_021098.3(CACNA1H):c.1454G>A (p.Arg485His)
|
|
|
NM_021098.3(CACNA1H):c.1464G>A (p.Lys488=)
|
rs1967974749
|
|
NM_021098.3(CACNA1H):c.1468G>C (p.Val490Leu)
|
|
|
NM_021098.3(CACNA1H):c.1474C>G (p.Pro492Ala)
|
rs935642453
|
|
NM_021098.3(CACNA1H):c.148C>T (p.Pro50Ser)
|
rs1208126657
|
|
NM_021098.3(CACNA1H):c.1490G>A (p.Gly497Asp)
|
|
|
NM_021098.3(CACNA1H):c.1491C>G (p.Gly497=)
|
|
|
NM_021098.3(CACNA1H):c.1499C>T (p.Pro500Leu)
|
|
|
NM_021098.3(CACNA1H):c.1506C>T (p.His502=)
|
rs2141257419
|
|
NM_021098.3(CACNA1H):c.1511_1516del (p.Gln504_Arg505del)
|
rs1967981000
|
|
NM_021098.3(CACNA1H):c.1514G>A (p.Arg505His)
|
|
|
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly)
|
rs58593315
|
|
NM_021098.3(CACNA1H):c.1516C>T (p.Arg506Trp)
|
rs58593315
|
|
NM_021098.3(CACNA1H):c.151T>G (p.Ser51Ala)
|
rs1490566920
|
|
NM_021098.3(CACNA1H):c.1520C>T (p.Ala507Val)
|
rs2141257602
|
|
NM_021098.3(CACNA1H):c.1527G>A (p.Arg509=)
|
|
|
NM_021098.3(CACNA1H):c.1528C>A (p.His510Asn)
|
|
|
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val)
|
|
|
NM_021098.3(CACNA1H):c.153C>T (p.Ser51=)
|
rs1179273024
|
|
NM_021098.3(CACNA1H):c.1546C>A (p.His516Asn)
|
rs1057519554
|
|
NM_021098.3(CACNA1H):c.1554C>G (p.Val518=)
|
rs763092079
|
|
NM_021098.3(CACNA1H):c.1560C>T (p.His520=)
|
|
|
NM_021098.3(CACNA1H):c.1563C>T (p.His521=)
|
|
|
NM_021098.3(CACNA1H):c.1566_1574del (p.His526_His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[5] (p.His528del)
|
|
|
NM_021098.3(CACNA1H):c.1567CAC[7] (p.His528dup)
|
rs760736442
|
|
NM_021098.3(CACNA1H):c.1588C>T (p.His530Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1599T>C (p.His533=)
|
|
|
NM_021098.3(CACNA1H):c.15A>C (p.Ala5=)
|
rs1419005675
|
|
NM_021098.3(CACNA1H):c.1611C>T (p.Arg537=)
|
|
|
NM_021098.3(CACNA1H):c.1614G>A (p.Arg538=)
|
rs1383742728
|
|
NM_021098.3(CACNA1H):c.1617C>A (p.Pro539=)
|
rs914641626
|
|
NM_021098.3(CACNA1H):c.161C>T (p.Pro54Leu)
|
|
|
NM_021098.3(CACNA1H):c.1620C>A (p.Gly540=)
|
|
|
NM_021098.3(CACNA1H):c.1633_1648del (p.Ala545fs)
|
|
|
NM_021098.3(CACNA1H):c.1647G>T (p.Arg549Ser)
|
|
|
NM_021098.3(CACNA1H):c.1658C>T (p.Ala553Val)
|
rs1249878702
|
|
NM_021098.3(CACNA1H):c.1662C>G (p.Gly554=)
|
rs755913742
|
|
NM_021098.3(CACNA1H):c.1662C>T (p.Gly554=)
|
|
|
NM_021098.3(CACNA1H):c.1664C>A (p.Ala555Glu)
|
rs9924241
|
|
NM_021098.3(CACNA1H):c.1665G>T (p.Ala555=)
|
rs753841406
|
|
NM_021098.3(CACNA1H):c.1669C>A (p.Pro557Thr)
|
|
|
NM_021098.3(CACNA1H):c.1677A>G (p.Pro559=)
|
rs2141259471
|
|
NM_021098.3(CACNA1H):c.1686A>G (p.Pro562=)
|
|
|
NM_021098.3(CACNA1H):c.168C>T (p.Ala56=)
|
rs1961912470
|
|
NM_021098.3(CACNA1H):c.1695A>G (p.Gly565=)
|
rs1272259379
|
|
NM_021098.3(CACNA1H):c.1696C>T (p.Pro566Ser)
|
rs891039616
|
|
NM_021098.3(CACNA1H):c.1700C>T (p.Pro567Leu)
|
rs2141259768
|
|
NM_021098.3(CACNA1H):c.1701C>G (p.Pro567=)
|
rs763608019
|
|
NM_021098.3(CACNA1H):c.1701C>T (p.Pro567=)
|
rs763608019
|
|
NM_021098.3(CACNA1H):c.1703A>T (p.Asp568Val)
|
|
|
NM_021098.3(CACNA1H):c.1704C>T (p.Asp568=)
|
|
|
NM_021098.3(CACNA1H):c.1715_1716del (p.Val572fs)
|
rs2141259958
|
|
NM_021098.3(CACNA1H):c.1721G>A (p.Ser574Asn)
|
rs1968018663
|
|
NM_021098.3(CACNA1H):c.1726T>C (p.Tyr576His)
|
|
|
NM_021098.3(CACNA1H):c.1727A>G (p.Tyr576Cys)
|
|
|
NM_021098.3(CACNA1H):c.1733C>T (p.Ala578Val)
|
rs1968020467
|
|
NM_021098.3(CACNA1H):c.1734C>T (p.Ala578=)
|
|
|
NM_021098.3(CACNA1H):c.1737C>G (p.Asp579Glu)
|
|
|
NM_021098.3(CACNA1H):c.1745T>C (p.Ile582Thr)
|
|
|
NM_021098.3(CACNA1H):c.1763G>C (p.Arg588Thr)
|
rs1439734393
|
|
NM_021098.3(CACNA1H):c.1767C>T (p.Ala589=)
|
|
|
NM_021098.3(CACNA1H):c.1785_1787del (p.Ala596del)
|
rs1968031277
|
|
NM_021098.3(CACNA1H):c.1785_1796del (p.Thr597_Ala600del)
|
rs773399229
|
|
NM_021098.3(CACNA1H):c.1789_1794del (p.Thr597_Ala598del)
|
rs1968032311
|
|
NM_021098.3(CACNA1H):c.1790C>T (p.Thr597Ile)
|
rs890994381
|
|
NM_021098.3(CACNA1H):c.1797T>C (p.Ala599=)
|
rs2141261175
|
|
NM_021098.3(CACNA1H):c.179C>T (p.Ala60Val)
|
|
|
NM_021098.3(CACNA1H):c.17G>A (p.Arg6Gln)
|
|
|
NM_021098.3(CACNA1H):c.1804C>T (p.Leu602Phe)
|
|
|
NM_021098.3(CACNA1H):c.1809_1810delinsGG (p.Leu604Val)
|
|
|
NM_021098.3(CACNA1H):c.1817C>G (p.Thr606Arg)
|
|
|
NM_021098.3(CACNA1H):c.1820G>A (p.Gly607Glu)
|
rs781017160
|
|
NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp)
|
|
|
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1835A>T (p.Asn612Ile)
|
rs773099504
|
|
NM_021098.3(CACNA1H):c.1837_1844del (p.Tyr613fs)
|
rs2141261620
|
|
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
|
|
|
NM_021098.3(CACNA1H):c.1845G>A (p.Thr615=)
|
rs776887979
|
|
NM_021098.3(CACNA1H):c.1847_1862del (p.Ile616fs)
|
|
|
NM_021098.3(CACNA1H):c.1849C>G (p.Leu617Val)
|
rs867292141
|
|
NM_021098.3(CACNA1H):c.1850T>C (p.Leu617Pro)
|
rs1433856447
|
|
NM_021098.3(CACNA1H):c.1854C>G (p.Pro618=)
|
|
|
NM_021098.3(CACNA1H):c.1878C>T (p.Gly626=)
|
|
|
NM_021098.3(CACNA1H):c.1880G>A (p.Ser627Asn)
|
rs1453581368
|
|
NM_021098.3(CACNA1H):c.1885A>G (p.Ser629Gly)
|
|
|
NM_021098.3(CACNA1H):c.1890C>A (p.Pro630=)
|
rs755382298
|
|
NM_021098.3(CACNA1H):c.1891G>C (p.Gly631Arg)
|
|
|
NM_021098.3(CACNA1H):c.1902G>A (p.Gly634=)
|
|
|
NM_021098.3(CACNA1H):c.1912G>C (p.Gly638Arg)
|
|
|
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
|
|
|
NM_021098.3(CACNA1H):c.1919C>A (p.Pro640Gln)
|
rs61734410
|
|
NM_021098.3(CACNA1H):c.1928C>G (p.Thr643Ser)
|
rs1968059158
|
|
NM_021098.3(CACNA1H):c.1930G>A (p.Gly644Arg)
|
rs761227158
|
|
NM_021098.3(CACNA1H):c.1938C>A (p.His646Gln)
|
rs771171443
|
|
NM_021098.3(CACNA1H):c.193G>T (p.Asp65Tyr)
|
|
|
NM_021098.3(CACNA1H):c.1940G>A (p.Gly647Asp)
|
|
|
NM_021098.3(CACNA1H):c.1943C>A (p.Pro648Gln)
|
|
|
NM_021098.3(CACNA1H):c.1943C>T (p.Pro648Leu)
|
|
|
NM_021098.3(CACNA1H):c.194A>G (p.Asp65Gly)
|
|
|
NM_021098.3(CACNA1H):c.1950C>T (p.Ser650=)
|
|
|
NM_021098.3(CACNA1H):c.1951T>C (p.Leu651=)
|
|
|
NM_021098.3(CACNA1H):c.1961C>A (p.Pro654His)
|
|
|
NM_021098.3(CACNA1H):c.1961C>G (p.Pro654Arg)
|
rs778111473
|
|
NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser)
|
rs59079584
|
|
NM_021098.3(CACNA1H):c.1968C>G (p.Pro656=)
|
rs1163122575
|
|
NM_021098.3(CACNA1H):c.1973AGA[1] (p.Lys659del)
|
rs753052647
|
|
NM_021098.3(CACNA1H):c.1980C>G (p.Ile660Met)
|
|
|
NM_021098.3(CACNA1H):c.1980C>T (p.Ile660=)
|
|
|
NM_021098.3(CACNA1H):c.1987G>A (p.Val663Met)
|
rs140979551
|
|
NM_021098.3(CACNA1H):c.1990G>A (p.Val664Ile)
|
|
|
NM_021098.3(CACNA1H):c.1991T>G (p.Val664Gly)
|
|
|
NM_021098.3(CACNA1H):c.1991_1992delinsCT (p.Val664Ala)
|
rs1968071552
|
|
NM_021098.3(CACNA1H):c.1994G>C (p.Gly665Ala)
|
|
|
NM_021098.3(CACNA1H):c.1997A>C (p.Glu666Ala)
|
|
|
NM_021098.3(CACNA1H):c.2002+11_2002+14dup
|
rs1489074089
|
|
NM_021098.3(CACNA1H):c.2002+12G>T
|
rs1968075185
|
|
NM_021098.3(CACNA1H):c.2002+15C>T
|
rs1043005077
|
|
NM_021098.3(CACNA1H):c.2002+18C>T
|
|
|
NM_021098.3(CACNA1H):c.2003-10T>C
|
rs2141277371
|
|
NM_021098.3(CACNA1H):c.2003-12C>T
|
rs1301686568
|
|
NM_021098.3(CACNA1H):c.2003-16G>A
|
|
|
NM_021098.3(CACNA1H):c.2010C>T (p.Gly670=)
|
|
|
NM_021098.3(CACNA1H):c.2014G>A (p.Ala672Thr)
|
|
|
NM_021098.3(CACNA1H):c.2017C>T (p.Pro673Ser)
|
rs1057520145
|
|
NM_021098.3(CACNA1H):c.2022C>T (p.Gly674=)
|
|
|
NM_021098.3(CACNA1H):c.2026_2027del (p.Leu676fs)
|
|
|
NM_021098.3(CACNA1H):c.2027T>G (p.Leu676Arg)
|
|
|
NM_021098.3(CACNA1H):c.2028G>T (p.Leu676=)
|
|
|
NM_021098.3(CACNA1H):c.2033G>C (p.Gly678Ala)
|
rs2141277713
|
|
NM_021098.3(CACNA1H):c.2034C>T (p.Gly678=)
|
|
|
NM_021098.3(CACNA1H):c.2039G>T (p.Ser680Ile)
|
|
|
NM_021098.3(CACNA1H):c.2050C>T (p.Pro684Ser)
|
|
|
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro)
|
rs2141277907
|
|
NM_021098.3(CACNA1H):c.2058C>T (p.Pro686=)
|
rs2141277940
|
|
NM_021098.3(CACNA1H):c.2061C>T (p.Ser687=)
|
rs554718345
|
|
NM_021098.3(CACNA1H):c.2064C>G (p.Pro688=)
|
|
|
NM_021098.3(CACNA1H):c.2064C>T (p.Pro688=)
|
rs766428359
|
|
NM_021098.3(CACNA1H):c.2066C>T (p.Pro689Leu)
|
|
|
NM_021098.3(CACNA1H):c.2070G>A (p.Ala690=)
|
|
|
NM_021098.3(CACNA1H):c.2072G>A (p.Gly691Asp)
|
rs1596418694
|
|
NM_021098.3(CACNA1H):c.2075C>G (p.Thr692Arg)
|
|
|
NM_021098.3(CACNA1H):c.2077C>A (p.Leu693Met)
|
|
|
NM_021098.3(CACNA1H):c.2077C>G (p.Leu693Val)
|
|
|
NM_021098.3(CACNA1H):c.2082C>T (p.Thr694=)
|
|
|
NM_021098.3(CACNA1H):c.2090T>G (p.Leu697Arg)
|
rs2141278256
|
|
NM_021098.3(CACNA1H):c.2092A>C (p.Lys698Gln)
|
|
|
NM_021098.3(CACNA1H):c.210C>G (p.Val70=)
|
rs2151604551
|
|
NM_021098.3(CACNA1H):c.2110A>G (p.Thr704Ala)
|
|
|
NM_021098.3(CACNA1H):c.2114G>A (p.Arg705His)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.2114G>T (p.Arg705Leu)
|
rs200422681
|
|
NM_021098.3(CACNA1H):c.2125G>A (p.Asp709Asn)
|
rs1596419043
|
|
NM_021098.3(CACNA1H):c.212C>A (p.Pro71Gln)
|
|
|
NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg)
|
rs774748739
|
|
NM_021098.3(CACNA1H):c.2133G>A (p.Glu711=)
|
rs560783884
|
|
NM_021098.3(CACNA1H):c.2148C>A (p.Gly716=)
|
rs1275938567
|
|
NM_021098.3(CACNA1H):c.2153A>C (p.Glu718Ala)
|
rs538923520
|
|
NM_021098.3(CACNA1H):c.2153A>G (p.Glu718Gly)
|
rs538923520
|
|
NM_021098.3(CACNA1H):c.2161G>C (p.Asp721His)
|
|
|
NM_021098.3(CACNA1H):c.2165C>T (p.Ser722Leu)
|
|
|
NM_021098.3(CACNA1H):c.2174G>A (p.Arg725His)
|
|
|
NM_021098.3(CACNA1H):c.2177G>A (p.Gly726Asp)
|
|
|
NM_021098.3(CACNA1H):c.2179G>A (p.Val727Ile)
|
rs781150755
|
|
NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser)
|
rs1596271034
|
|
NM_021098.3(CACNA1H):c.2188T>C (p.Phe730Leu)
|
rs1346520324
|
|
NM_021098.3(CACNA1H):c.2193G>A (p.Thr731=)
|
rs374261511
|
|
NM_021098.3(CACNA1H):c.2199C>A (p.Asp733Glu)
|
|
|
NM_021098.3(CACNA1H):c.21C>A (p.Ala7=)
|
rs904297221
|
|
NM_021098.3(CACNA1H):c.21C>G (p.Ala7=)
|
rs904297221
|
|
NM_021098.3(CACNA1H):c.21C>T (p.Ala7=)
|
rs904297221
|
|
NM_021098.3(CACNA1H):c.2203C>G (p.Arg735Gly)
|
rs191938566
|
|
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer)
|
rs1555513044
|
|
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)
|
rs372759314
|
|
NM_021098.3(CACNA1H):c.2223C>G (p.Asp741Glu)
|
rs1402942281
|
|
NM_021098.3(CACNA1H):c.2225C>A (p.Pro742His)
|
rs377176081
|
|
NM_021098.3(CACNA1H):c.2233C>T (p.Pro745Ser)
|
|
|
NM_021098.3(CACNA1H):c.2237C>T (p.Pro746Leu)
|
|
|
NM_021098.3(CACNA1H):c.2239C>T (p.Arg747Cys)
|
rs369566757
|
|
NM_021098.3(CACNA1H):c.2243C>T (p.Ala748Val)
|
|
|
NM_021098.3(CACNA1H):c.2246C>G (p.Thr749Arg)
|
rs749345577
|
|
NM_021098.3(CACNA1H):c.2247G>A (p.Thr749=)
|
rs774505050
|
|
NM_021098.3(CACNA1H):c.2254C>G (p.Pro752Ala)
|
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2254CCAGGC[4] (p.752PG[4])
|
rs756747669
|
|
NM_021098.3(CACNA1H):c.2255C>A (p.Pro752Gln)
|
|
|
NM_021098.3(CACNA1H):c.2258G>C (p.Gly753Ala)
|
rs767816214
|
|
NM_021098.3(CACNA1H):c.2285_2300dup (p.Ala768fs)
|
|
|
NM_021098.3(CACNA1H):c.2289A>C (p.Ala763=)
|
|
|
NM_021098.3(CACNA1H):c.2295G>C (p.Gln765His)
|
|
|
NM_021098.3(CACNA1H):c.229G>A (p.Ala77Thr)
|
|
|
NM_021098.3(CACNA1H):c.229G>T (p.Ala77Ser)
|
rs1428706132
|
|
NM_021098.3(CACNA1H):c.2305C>T (p.Pro769Ser)
|
|
|
NM_021098.3(CACNA1H):c.2311G>A (p.Glu771Lys)
|
|
|
NM_021098.3(CACNA1H):c.2312A>G (p.Glu771Gly)
|
rs2141280761
|
|
NM_021098.3(CACNA1H):c.2320T>C (p.Trp774Arg)
|
|
|
NM_021098.3(CACNA1H):c.2321G>T (p.Trp774Leu)
|
rs1596421279
|
|
NM_021098.3(CACNA1H):c.2322G>T (p.Trp774Cys)
|
rs1451924937
|
|
NM_021098.3(CACNA1H):c.2330G>A (p.Arg777His)
|
|
|
NM_021098.3(CACNA1H):c.2332C>T (p.Leu778Phe)
|
|
|
NM_021098.3(CACNA1H):c.2336G>C (p.Trp779Ser)
|
|
|
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys)
|
rs1473122688
|
|
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn)
|
rs200687647
|
|
NM_021098.3(CACNA1H):c.2342C>T (p.Thr781Ile)
|
rs200687647
|
|
NM_021098.3(CACNA1H):c.2350G>A (p.Gly784Ser)
|
|
|
NM_021098.3(CACNA1H):c.2359C>A (p.Arg787Ser)
|
rs747178657
|
|
NM_021098.3(CACNA1H):c.2360G>A (p.Arg787His)
|
|
|
NM_021098.3(CACNA1H):c.2362C>G (p.Arg788Gly)
|
rs3751664
|
|
NM_021098.3(CACNA1H):c.236TCT[2] (p.Phe81del)
|
rs1420201619
|
|
NM_021098.3(CACNA1H):c.2379G>A (p.Lys793=)
|
rs755411250
|
|
NM_021098.3(CACNA1H):c.2387G>A (p.Ser796Asn)
|
rs1567521021
|
|
NM_021098.3(CACNA1H):c.2388C>T (p.Ser796=)
|
|
|
NM_021098.3(CACNA1H):c.2397C>T (p.Ile799=)
|
|
|
NM_021098.3(CACNA1H):c.2403G>A (p.Met801Ile)
|
rs2141281744
|
|
NM_021098.3(CACNA1H):c.2404G>A (p.Ala802Thr)
|
rs2141281763
|
|
NM_021098.3(CACNA1H):c.2410C>T (p.Leu804Phe)
|
|
|
NM_021098.3(CACNA1H):c.2415C>T (p.Val805=)
|
|
|
NM_021098.3(CACNA1H):c.241T>C (p.Phe81Leu)
|
|
|
NM_021098.3(CACNA1H):c.2421G>C (p.Thr807=)
|
rs761461229
|
|
NM_021098.3(CACNA1H):c.2437G>C (p.Glu813Gln)
|
rs1555513209
|
|
NM_021098.3(CACNA1H):c.243C>T (p.Phe81=)
|
|
|
NM_021098.3(CACNA1H):c.2443C>T (p.His815Tyr)
|
|
|
NM_021098.3(CACNA1H):c.2448G>A (p.Glu816=)
|
|
|
NM_021098.3(CACNA1H):c.2451+18C>T
|
|
|
NM_021098.3(CACNA1H):c.2451+18del
|
|
|
NM_021098.3(CACNA1H):c.2451+3G>A
|
rs1596422577
|
|
NM_021098.3(CACNA1H):c.2451+4C>G
|
rs764605459
|
|
NM_021098.3(CACNA1H):c.2451+5G>A
|
|
|
NM_021098.3(CACNA1H):c.2451+7G>T
|
rs1202347048
|
|
NM_021098.3(CACNA1H):c.2452-16C>T
|
|
|
NM_021098.3(CACNA1H):c.2452-17C>A
|
rs993654582
|
|
NM_021098.3(CACNA1H):c.2452-20G>C
|
|
|
NM_021098.3(CACNA1H):c.2452-3C>T
|
rs372018213
|
|
NM_021098.3(CACNA1H):c.2452-5T>A
|
rs1471116016
|
|
NM_021098.3(CACNA1H):c.2452-5T>G
|
|
|
NM_021098.3(CACNA1H):c.2452-6C>G
|
rs766620515
|
|
NM_021098.3(CACNA1H):c.2452-8G>C
|
|
|
NM_021098.3(CACNA1H):c.2454C>G (p.Pro818=)
|
rs545917540
|
|
NM_021098.3(CACNA1H):c.2454C>T (p.Pro818=)
|
rs545917540
|
|
NM_021098.3(CACNA1H):c.245G>A (p.Cys82Tyr)
|
|
|
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro)
|
rs2141288117
|
|
NM_021098.3(CACNA1H):c.2463_2466del (p.Thr822fs)
|
|
|
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.2465C>T (p.Thr822Ile)
|
rs369356684
|
|
NM_021098.3(CACNA1H):c.2466T>G (p.Thr822=)
|
|
|
NM_021098.3(CACNA1H):c.246C>T (p.Cys82=)
|
rs1596271172
|
|
NM_021098.3(CACNA1H):c.2472T>C (p.Ala824=)
|
rs2141288261
|
|
NM_021098.3(CACNA1H):c.2481C>A (p.Ile827=)
|
|
|
NM_021098.3(CACNA1H):c.2482A>G (p.Ser828Gly)
|
|
|
NM_021098.3(CACNA1H):c.2484C>T (p.Ser828=)
|
rs368916421
|
|
NM_021098.3(CACNA1H):c.2498C>T (p.Thr833Ile)
|
rs1404959892
|
|
NM_021098.3(CACNA1H):c.249C>G (p.Leu83=)
|
|
|
NM_021098.3(CACNA1H):c.2500A>G (p.Ser834Gly)
|
|
|
NM_021098.3(CACNA1H):c.250G>T (p.Gly84Cys)
|
|
|
NM_021098.3(CACNA1H):c.2510C>T (p.Ala837Val)
|
|
|
NM_021098.3(CACNA1H):c.2522T>A (p.Leu841Gln)
|
rs1223248915
|
|
NM_021098.3(CACNA1H):c.2528A>G (p.Lys843Arg)
|
|
|
NM_021098.3(CACNA1H):c.2532G>A (p.Leu844=)
|
|
|
NM_021098.3(CACNA1H):c.2534T>G (p.Leu845Arg)
|
rs1596428768
|
|
NM_021098.3(CACNA1H):c.2536G>A (p.Ala846Thr)
|
rs1596428784
|
|
NM_021098.3(CACNA1H):c.2538C>A (p.Ala846=)
|
rs748509684
|
|
NM_021098.3(CACNA1H):c.2538C>T (p.Ala846=)
|
rs748509684
|
|
NM_021098.3(CACNA1H):c.2540G>A (p.Cys847Tyr)
|
rs202019417
|
|
NM_021098.3(CACNA1H):c.2540G>C (p.Cys847Ser)
|
rs202019417
|
|
NM_021098.3(CACNA1H):c.2544C>A (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=)
|
rs28365123
|
|
NM_021098.3(CACNA1H):c.2547T>C (p.Pro849=)
|
rs1242284062
|
|
NM_021098.3(CACNA1H):c.2550G>A (p.Leu850=)
|
rs2141289134
|
|
NM_021098.3(CACNA1H):c.2553C>T (p.Gly851=)
|
rs377029056
|
|
NM_021098.3(CACNA1H):c.2565C>G (p.Asn855Lys)
|
rs2141289290
|
|
NM_021098.3(CACNA1H):c.2566C>G (p.Pro856Ala)
|
|
|
NM_021098.3(CACNA1H):c.2566C>T (p.Pro856Ser)
|
rs1968541498
|
|
NM_021098.3(CACNA1H):c.2567C>T (p.Pro856Leu)
|
|
|
NM_021098.3(CACNA1H):c.2574C>T (p.Asn858=)
|
|
|
NM_021098.3(CACNA1H):c.2584G>T (p.Gly862Cys)
|
rs747426357
|
|
NM_021098.3(CACNA1H):c.2592C>T (p.Ile864=)
|
|
|
NM_021098.3(CACNA1H):c.2595G>A (p.Val865=)
|
|
|
NM_021098.3(CACNA1H):c.2603+11A>T
|
|
|
NM_021098.3(CACNA1H):c.2603+13C>A
|
|
|
NM_021098.3(CACNA1H):c.2603+13C>T
|
rs201131841
|
|
NM_021098.3(CACNA1H):c.2603+14C>G
|
|
|
NM_021098.3(CACNA1H):c.2603+14del
|
|
|
NM_021098.3(CACNA1H):c.2603+18C>T
|
|
|
NM_021098.3(CACNA1H):c.2603+19C>T
|
|
|
NM_021098.3(CACNA1H):c.2603+5G>A
|
rs1968547662
|
|
NM_021098.3(CACNA1H):c.2603+5G>T
|
|
|
NM_021098.3(CACNA1H):c.2603+8C>G
|
rs761715073
|
|
NM_021098.3(CACNA1H):c.2603+8C>T
|
|
|
NM_021098.3(CACNA1H):c.2603+9C>T
|
|
|
NM_021098.3(CACNA1H):c.2604-10C>T
|
|
|
NM_021098.3(CACNA1H):c.2604-13C>G
|
rs961885924
|
|
NM_021098.3(CACNA1H):c.2604-3C>T
|
rs1489658003
|
|
NM_021098.3(CACNA1H):c.2604-4G>T
|
|
|
NM_021098.3(CACNA1H):c.2604C>T (p.Ser868=)
|
rs562148225
|
|
NM_021098.3(CACNA1H):c.2607C>T (p.Val869=)
|
rs2141296467
|
|
NM_021098.3(CACNA1H):c.260C>T (p.Thr87Met)
|
|
|
NM_021098.3(CACNA1H):c.2616C>A (p.Ile872=)
|
|
|
NM_021098.3(CACNA1H):c.2616C>G (p.Ile872Met)
|
rs375605628
|
|
NM_021098.3(CACNA1H):c.2628G>A (p.Ala876=)
|
|
|
NM_021098.3(CACNA1H):c.262C>T (p.Arg88Trp)
|
|
|
NM_021098.3(CACNA1H):c.2630A>G (p.Asp877Gly)
|
rs547376627
|
|
NM_021098.3(CACNA1H):c.263G>A (p.Arg88Gln)
|
rs1375491341
|
|
NM_021098.3(CACNA1H):c.2649G>A (p.Leu883=)
|
rs2141296783
|
|
NM_021098.3(CACNA1H):c.2654C>T (p.Thr885Ile)
|
|
|
NM_021098.3(CACNA1H):c.2660G>A (p.Arg887Gln)
|
|
|
NM_021098.3(CACNA1H):c.2662C>T (p.Leu888=)
|
|
|
NM_021098.3(CACNA1H):c.2666T>C (p.Leu889Pro)
|
|
|
NM_021098.3(CACNA1H):c.2676G>A (p.Leu892=)
|
rs567419788
|
|
NM_021098.3(CACNA1H):c.2677A>G (p.Lys893Glu)
|
rs2141297110
|
|
NM_021098.3(CACNA1H):c.2708G>T (p.Arg903Leu)
|
|
|
NM_021098.3(CACNA1H):c.270C>T (p.Arg90=)
|
rs577235589
|
|
NM_021098.3(CACNA1H):c.2725G>T (p.Val909Leu)
|
|
|
NM_021098.3(CACNA1H):c.272G>C (p.Ser91Thr)
|
|
|
NM_021098.3(CACNA1H):c.2733C>T (p.Thr911=)
|
|
|
NM_021098.3(CACNA1H):c.2736G>A (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.2736G>T (p.Met912Ile)
|
|
|
NM_021098.3(CACNA1H):c.2739C>T (p.Asp913=)
|
|
|
NM_021098.3(CACNA1H):c.273C>G (p.Ser91Arg)
|
rs1043511168
|
|
NM_021098.3(CACNA1H):c.2740A>G (p.Asn914Asp)
|
|
|
NM_021098.3(CACNA1H):c.2760G>A (p.Thr920=)
|
rs776215729
|
|
NM_021098.3(CACNA1H):c.2760G>T (p.Thr920=)
|
rs776215729
|
|
NM_021098.3(CACNA1H):c.2766C>T (p.Leu922=)
|
rs558892363
|
|
NM_021098.3(CACNA1H):c.2770C>T (p.Leu924Phe)
|
|
|
NM_021098.3(CACNA1H):c.2776A>C (p.Ile926Leu)
|
|
|
NM_021098.3(CACNA1H):c.2781C>T (p.Phe927=)
|
|
|
NM_021098.3(CACNA1H):c.2789+11C>T
|
|
|
NM_021098.3(CACNA1H):c.2789+14C>T
|
rs58507166
|
|
NM_021098.3(CACNA1H):c.2789+6C>T
|
|
|
NM_021098.3(CACNA1H):c.2790-18C>T
|
|
|
NM_021098.3(CACNA1H):c.2790-24_2790-2del
|
rs767709133
|
|
NM_021098.3(CACNA1H):c.2802G>T (p.Met934Ile)
|
|
|
NM_021098.3(CACNA1H):c.2806C>T (p.Leu936Phe)
|
rs1471872554
|
|
NM_021098.3(CACNA1H):c.2834C>T (p.Thr945Ile)
|
|
|
NM_021098.3(CACNA1H):c.283C>A (p.Arg95=)
|
|
|
NM_021098.3(CACNA1H):c.2840C>T (p.Thr947Ile)
|
|
|
NM_021098.3(CACNA1H):c.2854C>T (p.Pro952Ser)
|
rs1339365288
|
|
NM_021098.3(CACNA1H):c.2857G>A (p.Asp953Asn)
|
|
|
NM_021098.3(CACNA1H):c.2859C>G (p.Asp953Glu)
|
|
|
NM_021098.3(CACNA1H):c.285G>C (p.Arg95=)
|
|
|
NM_021098.3(CACNA1H):c.2862G>A (p.Arg954=)
|
|
|
NM_021098.3(CACNA1H):c.2872G>A (p.Asp958Asn)
|
|
|
NM_021098.3(CACNA1H):c.2877C>A (p.Ser959=)
|
|
|
NM_021098.3(CACNA1H):c.2878C>G (p.Leu960Val)
|
rs1299774056
|
|
NM_021098.3(CACNA1H):c.2886G>C (p.Trp962Cys)
|
|
|
NM_021098.3(CACNA1H):c.2890A>G (p.Ile964Val)
|
rs1968823371
|
|
NM_021098.3(CACNA1H):c.2893G>A (p.Val965Ile)
|
|
|
NM_021098.3(CACNA1H):c.2907+18del
|
rs2141305998
|
|
NM_021098.3(CACNA1H):c.2907+19G>A
|
|
|
NM_021098.3(CACNA1H):c.2908-10_2908-4dup
|
|
|
NM_021098.3(CACNA1H):c.2908-15C>T
|
|
|
NM_021098.3(CACNA1H):c.2908-18C>T
|
rs751036019
|
|
NM_021098.3(CACNA1H):c.2932G>A (p.Val978Met)
|
|
|
NM_021098.3(CACNA1H):c.2937C>A (p.Val979=)
|
rs770074317
|
|
NM_021098.3(CACNA1H):c.2937C>T (p.Val979=)
|
|
|
NM_021098.3(CACNA1H):c.2946C>G (p.Asn982Lys)
|
|
|
NM_021098.3(CACNA1H):c.2946C>T (p.Asn982=)
|
rs368824465
|
|
NM_021098.3(CACNA1H):c.2954C>T (p.Ala985Val)
|
rs766946572
|
|
NM_021098.3(CACNA1H):c.2955C>T (p.Ala985=)
|
rs997608038
|
|
NM_021098.3(CACNA1H):c.2958C>G (p.Ser986=)
|
|
|
NM_021098.3(CACNA1H):c.2960C>T (p.Thr987Ile)
|
rs891172463
|
|
NM_021098.3(CACNA1H):c.2973C>T (p.Ala991=)
|
|
|
NM_021098.3(CACNA1H):c.2975C>T (p.Ala992Val)
|
|
|
NM_021098.3(CACNA1H):c.2977C>G (p.Leu993Val)
|
rs1265393669
|
|
NM_021098.3(CACNA1H):c.297C>T (p.Asn99=)
|
|
|
NM_021098.3(CACNA1H):c.2985C>T (p.Phe995=)
|
rs371675943
|
|
NM_021098.3(CACNA1H):c.299+10C>T
|
|
|
NM_021098.3(CACNA1H):c.299+14_299+15inv
|
|
|
NM_021098.3(CACNA1H):c.299+15C>G
|
rs553478910
|
|
NM_021098.3(CACNA1H):c.299+15C>T
|
rs553478910
|
|
NM_021098.3(CACNA1H):c.299+16GGCGGGG[2]
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+16GGCGGGG[4]
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+16GGCGGGG[5]
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+17G>A
|
|
|
NM_021098.3(CACNA1H):c.299+18C>A
|
|
|
NM_021098.3(CACNA1H):c.299+20_299+40del
|
rs147910127
|
|
NM_021098.3(CACNA1H):c.299+27_299+40del
|
|
|
NM_021098.3(CACNA1H):c.299+7T>A
|
|
|
NM_021098.3(CACNA1H):c.2992C>T (p.Leu998Phe)
|
rs768438272
|
|
NM_021098.3(CACNA1H):c.2994C>A (p.Leu998=)
|
|
|
NM_021098.3(CACNA1H):c.300-10G>A
|
|
|
NM_021098.3(CACNA1H):c.300-12C>T
|
|
|
NM_021098.3(CACNA1H):c.300-18C>T
|
|
|
NM_021098.3(CACNA1H):c.300-20T>C
|
|
|
NM_021098.3(CACNA1H):c.300-3C>T
|
rs1596380517
|
|
NM_021098.3(CACNA1H):c.300-5G>A
|
rs748626072
|
|
NM_021098.3(CACNA1H):c.300-5G>C
|
rs748626072
|
|
NM_021098.3(CACNA1H):c.300-8G>T
|
rs3751662
|
|
NM_021098.3(CACNA1H):c.3011A>G (p.Tyr1004Cys)
|
|
|
NM_021098.3(CACNA1H):c.3016C>T (p.Leu1006Phe)
|
rs1242224134
|
|
NM_021098.3(CACNA1H):c.3018C>T (p.Leu1006=)
|
|
|
NM_021098.3(CACNA1H):c.3025C>G (p.Leu1009Val)
|
|
|
NM_021098.3(CACNA1H):c.3028C>T (p.Leu1010=)
|
rs2141308915
|
|
NM_021098.3(CACNA1H):c.3035C>G (p.Ala1012Gly)
|
|
|
NM_021098.3(CACNA1H):c.3037A>G (p.Ile1013Val)
|
rs2141309026
|
|
NM_021098.3(CACNA1H):c.3039C>T (p.Ile1013=)
|
rs1055891812
|
|
NM_021098.3(CACNA1H):c.3044T>C (p.Val1015Ala)
|
|
|
NM_021098.3(CACNA1H):c.3059C>A (p.Ala1020Glu)
|
rs771994752
|
|
NM_021098.3(CACNA1H):c.3059C>T (p.Ala1020Val)
|
|
|
NM_021098.3(CACNA1H):c.3063+11A>G
|
|
|
NM_021098.3(CACNA1H):c.3063+17_3063+18del
|
rs1221923818
|
|
NM_021098.3(CACNA1H):c.3063+9G>A
|
rs1596443356
|
|
NM_021098.3(CACNA1H):c.3063+9_3063+21del
|
|
|
NM_021098.3(CACNA1H):c.3063+9del
|
rs757759305
|
|
NM_021098.3(CACNA1H):c.3064-18G>A
|
|
|
NM_021098.3(CACNA1H):c.306C>T (p.Phe102=)
|
|
|
NM_021098.3(CACNA1H):c.3072C>T (p.Ala1024=)
|
|
|
NM_021098.3(CACNA1H):c.3081C>G (p.Ser1027=)
|
|
|
NM_021098.3(CACNA1H):c.3081C>T (p.Ser1027=)
|
rs369351441
|
|
NM_021098.3(CACNA1H):c.3084C>G (p.Asp1028Glu)
|
rs1345041119
|
|
NM_021098.3(CACNA1H):c.3084C>T (p.Asp1028=)
|
|
|
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys)
|
rs548097951
|
|
NM_021098.3(CACNA1H):c.3096C>T (p.Asp1032=)
|
|
|
NM_021098.3(CACNA1H):c.3097A>G (p.Lys1033Glu)
|
|
|
NM_021098.3(CACNA1H):c.3105G>A (p.Ser1035=)
|
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|
NM_021098.3(CACNA1H):c.3108C>T (p.Val1036=)
|
|
|
NM_021098.3(CACNA1H):c.3114C>G (p.Phe1038Leu)
|
rs374946880
|
|
NM_021098.3(CACNA1H):c.3123C>T (p.Asp1041=)
|
|
|
NM_021098.3(CACNA1H):c.3125T>C (p.Phe1042Ser)
|
|
|
NM_021098.3(CACNA1H):c.3129C>G (p.His1043Gln)
|
|
|
NM_021098.3(CACNA1H):c.312C>G (p.His104Gln)
|
|
|
NM_021098.3(CACNA1H):c.3135C>T (p.Leu1045=)
|
|
|
NM_021098.3(CACNA1H):c.3139G>A (p.Glu1047Lys)
|
rs1555514736
|
|
NM_021098.3(CACNA1H):c.3141A>T (p.Glu1047Asp)
|
|
|
NM_021098.3(CACNA1H):c.3143_3145del (p.Leu1048del)
|
rs1555514742
|
|
NM_021098.3(CACNA1H):c.3154+10G>T
|
|
|
NM_021098.3(CACNA1H):c.3154+12C>T
|
rs779364761
|
|
NM_021098.3(CACNA1H):c.3154+14G>C
|
rs1448162924
|
|
NM_021098.3(CACNA1H):c.3154+15T>C
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>A
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>G
|
|
|
NM_021098.3(CACNA1H):c.3154+4C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-14C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-17C>T
|
|
|
NM_021098.3(CACNA1H):c.3155-6C>T
|
rs1172532833
|
|
NM_021098.3(CACNA1H):c.3155-7C>G
|
rs376008324
|
|
NM_021098.3(CACNA1H):c.3168T>C (p.Cys1056=)
|
rs1555514839
|
|
NM_021098.3(CACNA1H):c.3177C>G (p.Ala1059=)
|
|
|
NM_021098.3(CACNA1H):c.3178G>A (p.Val1060Met)
|
rs369966669
|
|
NM_021098.3(CACNA1H):c.3181A>T (p.Thr1061Ser)
|
rs1968957429
|
|
NM_021098.3(CACNA1H):c.3182C>A (p.Thr1061Asn)
|
rs2141316062
|
|
NM_021098.3(CACNA1H):c.3186C>T (p.Pro1062=)
|
rs1465734432
|
|
NM_021098.3(CACNA1H):c.3192G>T (p.Gly1064=)
|
|
|
NM_021098.3(CACNA1H):c.3195C>G (p.His1065Gln)
|
|
|
NM_021098.3(CACNA1H):c.3196C>T (p.Leu1066=)
|
rs2141316274
|
|
NM_021098.3(CACNA1H):c.3198G>A (p.Leu1066=)
|
|
|
NM_021098.3(CACNA1H):c.320T>C (p.Met107Thr)
|
|
|
NM_021098.3(CACNA1H):c.3214C>T (p.Leu1072=)
|
|
|
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe)
|
rs369474500
|
|
NM_021098.3(CACNA1H):c.3220C>T (p.Pro1074Ser)
|
|
|
NM_021098.3(CACNA1H):c.3221C>T (p.Pro1074Leu)
|
rs1288170321
|
|
NM_021098.3(CACNA1H):c.3224C>T (p.Pro1075Leu)
|
rs772211003
|
|
NM_021098.3(CACNA1H):c.3229A>G (p.Ile1077Val)
|
rs1368323486
|
|
NM_021098.3(CACNA1H):c.3237C>T (p.Cys1079=)
|
|
|
NM_021098.3(CACNA1H):c.3238A>C (p.Thr1080Pro)
|
rs776256025
|
|
NM_021098.3(CACNA1H):c.3249G>A (p.Thr1083=)
|
|
|
NM_021098.3(CACNA1H):c.3256C>T (p.Pro1086Ser)
|
rs1049677203
|
|
NM_021098.3(CACNA1H):c.3260C>G (p.Thr1087Ser)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3260C>T (p.Thr1087Ile)
|
rs772383239
|
|
NM_021098.3(CACNA1H):c.3261C>T (p.Thr1087=)
|
rs57606792
|
|
NM_021098.3(CACNA1H):c.3262C>A (p.Pro1088Thr)
|
|
|
NM_021098.3(CACNA1H):c.3262C>T (p.Pro1088Ser)
|
|
|
NM_021098.3(CACNA1H):c.3270C>T (p.Ser1090=)
|
rs201113434
|
|
NM_021098.3(CACNA1H):c.3272C>T (p.Ser1091Leu)
|
rs1184994482
|
|
NM_021098.3(CACNA1H):c.327A>C (p.Val109=)
|
rs775473074
|
|
NM_021098.3(CACNA1H):c.3280C>A (p.Leu1094Met)
|
rs1567531841
|
|
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
|
|
|
NM_021098.3(CACNA1H):c.3286G>A (p.Ala1096Thr)
|
|
|
NM_021098.3(CACNA1H):c.3294C>G (p.Pro1098=)
|
rs1039197409
|
|
NM_021098.3(CACNA1H):c.3297C>T (p.Ser1099=)
|
rs900247817
|
|
NM_021098.3(CACNA1H):c.3312G>A (p.Arg1104=)
|
rs1596446430
|
|
NM_021098.3(CACNA1H):c.3317G>A (p.Gly1106Asp)
|
|
|
NM_021098.3(CACNA1H):c.3327C>T (p.Ser1109=)
|
|
|
NM_021098.3(CACNA1H):c.332T>C (p.Met111Thr)
|
|
|
NM_021098.3(CACNA1H):c.3331G>C (p.Gly1111Arg)
|
rs59529743
|
|
NM_021098.3(CACNA1H):c.3333G>A (p.Gly1111=)
|
|
|
NM_021098.3(CACNA1H):c.3336C>A (p.Asp1112Glu)
|
|
|
NM_021098.3(CACNA1H):c.3338C>G (p.Pro1113Arg)
|
|
|
NM_021098.3(CACNA1H):c.333G>A (p.Met111Ile)
|
|
|
NM_021098.3(CACNA1H):c.3345G>C (p.Leu1115=)
|
|
|
NM_021098.3(CACNA1H):c.3359C>T (p.Pro1120Leu)
|
|
|
NM_021098.3(CACNA1H):c.3363+12C>T
|
|
|
NM_021098.3(CACNA1H):c.3363+15C>T
|
|
|
NM_021098.3(CACNA1H):c.3363+3A>G
|
|
|
NM_021098.3(CACNA1H):c.3364-5C>A
|
rs768382135
|
|
NM_021098.3(CACNA1H):c.3368G>C (p.Ser1123Thr)
|
rs1317286644
|
|
NM_021098.3(CACNA1H):c.3369C>T (p.Ser1123=)
|
|
|
NM_021098.3(CACNA1H):c.3372C>T (p.Leu1124=)
|
|
|
NM_021098.3(CACNA1H):c.3384C>T (p.Pro1128=)
|
|
|
NM_021098.3(CACNA1H):c.3387_3395del (p.Cys1129_Pro1131del)
|
rs1255783381
|
|
NM_021098.3(CACNA1H):c.3389C>T (p.Ala1130Val)
|
|
|
NM_021098.3(CACNA1H):c.3390C>A (p.Ala1130=)
|
|
|
NM_021098.3(CACNA1H):c.3391C>G (p.Pro1131Ala)
|
rs377297229
|
|
NM_021098.3(CACNA1H):c.3393C>T (p.Pro1131=)
|
|
|
NM_021098.3(CACNA1H):c.3398G>A (p.Gly1133Asp)
|
|
|
NM_021098.3(CACNA1H):c.3409G>A (p.Ala1137Thr)
|
|
|
NM_021098.3(CACNA1H):c.3416G>A (p.Ser1139Asn)
|
rs1205390921
|
|
NM_021098.3(CACNA1H):c.3422_3442del (p.Arg1141_Ser1147del)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup)
|
rs746597383
|
|
NM_021098.3(CACNA1H):c.3424C>T (p.Arg1142Cys)
|
|
|
NM_021098.3(CACNA1H):c.3426C>T (p.Arg1142=)
|
|
|
NM_021098.3(CACNA1H):c.3429C>T (p.Ser1143=)
|
|
|
NM_021098.3(CACNA1H):c.343G>A (p.Val115Met)
|
rs375342465
|
|
NM_021098.3(CACNA1H):c.3445G>T (p.Gly1149Cys)
|
rs753696656
|
|
NM_021098.3(CACNA1H):c.344T>C (p.Val115Ala)
|
|
|
NM_021098.3(CACNA1H):c.3450T>C (p.Arg1150=)
|
|
|
NM_021098.3(CACNA1H):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys)
|
|
|
NM_021098.3(CACNA1H):c.3467G>C (p.Arg1156Pro)
|
|
|
NM_021098.3(CACNA1H):c.3468C>A (p.Arg1156=)
|
|
|
NM_021098.3(CACNA1H):c.3477G>A (p.Gln1159=)
|
|
|
NM_021098.3(CACNA1H):c.3483G>A (p.Gly1161=)
|
|
|
NM_021098.3(CACNA1H):c.3488G>A (p.Arg1163His)
|
|
|
NM_021098.3(CACNA1H):c.3511G>A (p.Gly1171Ser)
|
rs753966852
|
|
NM_021098.3(CACNA1H):c.3517G>A (p.Gly1173Ser)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.3517G>C (p.Gly1173Arg)
|
rs1969122865
|
|
NM_021098.3(CACNA1H):c.351G>A (p.Leu117=)
|
|
|
NM_021098.3(CACNA1H):c.3520A>G (p.Ser1174Gly)
|
rs1379085668
|
|
NM_021098.3(CACNA1H):c.3525C>A (p.Thr1175=)
|
|
|
NM_021098.3(CACNA1H):c.3528C>T (p.Asp1176=)
|
|
|
NM_021098.3(CACNA1H):c.3529G>A (p.Asp1177Asn)
|
|
|
NM_021098.3(CACNA1H):c.3533A>G (p.Glu1178Gly)
|
rs2141327353
|
|
NM_021098.3(CACNA1H):c.3542A>G (p.Asp1181Gly)
|
|
|
NM_021098.3(CACNA1H):c.3547_3552dup (p.Ala1184_Ala1185insArgAla)
|
|
|
NM_021098.3(CACNA1H):c.354C>T (p.Gly118=)
|
rs1342020189
|
|
NM_021098.3(CACNA1H):c.3550G>A (p.Ala1184Thr)
|
|
|
NM_021098.3(CACNA1H):c.3558C>A (p.Pro1186=)
|
|
|
NM_021098.3(CACNA1H):c.3558C>G (p.Pro1186=)
|
|
|
NM_021098.3(CACNA1H):c.3558C>T (p.Pro1186=)
|
rs748985468
|
|
NM_021098.3(CACNA1H):c.3566G>A (p.Arg1189His)
|
rs1233148543
|
|
NM_021098.3(CACNA1H):c.3577C>G (p.Leu1193Val)
|
rs1461904626
|
|
NM_021098.3(CACNA1H):c.3577_3578delinsTA (p.Leu1193Ter)
|
|
|
NM_021098.3(CACNA1H):c.3578T>A (p.Leu1193Gln)
|
|
|
NM_021098.3(CACNA1H):c.3579G>T (p.Leu1193=)
|
rs1169808873
|
|
NM_021098.3(CACNA1H):c.3588C>T (p.Ala1196=)
|
|
|
NM_021098.3(CACNA1H):c.3595C>T (p.Leu1199=)
|
rs1273089808
|
|
NM_021098.3(CACNA1H):c.3599A>C (p.Asp1200Ala)
|
rs1555515661
|
|
NM_021098.3(CACNA1H):c.3600C>T (p.Asp1200=)
|
rs1555515663
|
|
NM_021098.3(CACNA1H):c.3601C>A (p.Pro1201Thr)
|
rs1185269498
|
|
NM_021098.3(CACNA1H):c.3601C>T (p.Pro1201Ser)
|
|
|
NM_021098.3(CACNA1H):c.3612G>A (p.Leu1204=)
|
|
|
NM_021098.3(CACNA1H):c.3613C>A (p.Arg1205=)
|
rs779622633
|
|
NM_021098.3(CACNA1H):c.3614G>C (p.Arg1205Pro)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3614G>T (p.Arg1205Leu)
|
rs58594334
|
|
NM_021098.3(CACNA1H):c.3615G>A (p.Arg1205=)
|
|
|
NM_021098.3(CACNA1H):c.3618G>T (p.Pro1206=)
|
rs771412437
|
|
NM_021098.3(CACNA1H):c.3625C>T (p.Leu1209Phe)
|
rs1969139516
|
|
NM_021098.3(CACNA1H):c.3633T>C (p.Pro1211=)
|
|
|
NM_021098.3(CACNA1H):c.3651C>A (p.Arg1217=)
|
|
|
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg)
|
rs746322724
|
|
NM_021098.3(CACNA1H):c.3656G>T (p.Gly1219Val)
|
|
|
NM_021098.3(CACNA1H):c.3670C>T (p.Leu1224=)
|
rs1011421153
|
|
NM_021098.3(CACNA1H):c.3679G>A (p.Asp1227Asn)
|
|
|
NM_021098.3(CACNA1H):c.3681C>T (p.Asp1227=)
|
rs1555515806
|
|
NM_021098.3(CACNA1H):c.3691C>T (p.Arg1231Cys)
|
|
|
NM_021098.3(CACNA1H):c.3692G>A (p.Arg1231His)
|
|
|
NM_021098.3(CACNA1H):c.3694A>G (p.Ile1232Val)
|
rs780672769
|
|
NM_021098.3(CACNA1H):c.3697G>C (p.Asp1233His)
|
rs768716174
|
|
NM_021098.3(CACNA1H):c.3702C>A (p.Ser1234Arg)
|
rs1176658784
|
|
NM_021098.3(CACNA1H):c.3720C>G (p.Ala1240=)
|
rs764674205
|
|
NM_021098.3(CACNA1H):c.3720C>T (p.Ala1240=)
|
|
|
NM_021098.3(CACNA1H):c.3723G>C (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3723G>T (p.Glu1241Asp)
|
rs547739256
|
|
NM_021098.3(CACNA1H):c.3727G>C (p.Asp1243His)
|
rs756447194
|
|
NM_021098.3(CACNA1H):c.3727GAC[2] (p.Asp1245del)
|
rs780993667
|
|
NM_021098.3(CACNA1H):c.3733G>A (p.Asp1245Asn)
|
|
|
NM_021098.3(CACNA1H):c.3736T>C (p.Ser1246Pro)
|
rs1969157452
|
|
NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp)
|
rs571145188
|
|
NM_021098.3(CACNA1H):c.3744+15C>T
|
|
|
NM_021098.3(CACNA1H):c.3744+18G>A
|
|
|
NM_021098.3(CACNA1H):c.3744+20C>T
|
|
|
NM_021098.3(CACNA1H):c.3745-12C>T
|
|
|
NM_021098.3(CACNA1H):c.3745-14G>A
|
rs8056494
|
|
NM_021098.3(CACNA1H):c.3745-14G>T
|
rs8056494
|
|
NM_021098.3(CACNA1H):c.3745-15C>T
|
|
|
NM_021098.3(CACNA1H):c.3745-5C>A
|
rs1405799623
|
|
NM_021098.3(CACNA1H):c.3747C>T (p.Ser1249=)
|
rs773881668
|
|
NM_021098.3(CACNA1H):c.3750C>G (p.Cys1250Trp)
|
rs761298608
|
|
NM_021098.3(CACNA1H):c.3753C>T (p.Cys1251=)
|
rs1222478322
|
|
NM_021098.3(CACNA1H):c.3754C>G (p.Leu1252Val)
|
|
|
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)
|
rs372000875
|
|
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)
|
rs534632699
|
|
NM_021098.3(CACNA1H):c.375C>T (p.Asp125=)
|
rs768580487
|
|
NM_021098.3(CACNA1H):c.3770T>C (p.Val1257Ala)
|
rs2141335147
|
|
NM_021098.3(CACNA1H):c.3786G>T (p.Lys1262Asn)
|
rs189425202
|
|
NM_021098.3(CACNA1H):c.3804C>T (p.Ser1268=)
|
rs750607074
|
|
NM_021098.3(CACNA1H):c.3805C>T (p.Arg1269Cys)
|
|
|
NM_021098.3(CACNA1H):c.3808G>A (p.Glu1270Lys)
|
|
|
NM_021098.3(CACNA1H):c.3818C>T (p.Ala1273Val)
|
rs1969249888
|
|
NM_021098.3(CACNA1H):c.3825C>T (p.Tyr1275=)
|
|
|
NM_021098.3(CACNA1H):c.3833C>G (p.Ser1278Cys)
|
|
|
NM_021098.3(CACNA1H):c.3844C>A (p.Arg1282=)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3844C>T (p.Arg1282Trp)
|
rs763465373
|
|
NM_021098.3(CACNA1H):c.3845+14G>T
|
|
|
NM_021098.3(CACNA1H):c.3845+17A>G
|
|
|
NM_021098.3(CACNA1H):c.3845+3G>A
|
rs1969252611
|
|
NM_021098.3(CACNA1H):c.3845+8G>C
|
rs200291203
|
|
NM_021098.3(CACNA1H):c.3846-11C>T
|
rs201806428
|
|
NM_021098.3(CACNA1H):c.3846-12_3846-7del
|
rs1969286619
|
|
NM_021098.3(CACNA1H):c.3846-18C>A
|
|
|
NM_021098.3(CACNA1H):c.3846-19CCCGCC[3]
|
rs1969286619
|
|
NM_021098.3(CACNA1H):c.3846-28_3846-7del
|
rs2141337640
|
|
NM_021098.3(CACNA1H):c.3846-32_3846-12del
|
|
|
NM_021098.3(CACNA1H):c.3849C>T (p.Phe1283=)
|
|
|
NM_021098.3(CACNA1H):c.384C>T (p.Cys128=)
|
|
|
NM_021098.3(CACNA1H):c.3851G>A (p.Arg1284His)
|
rs748613561
|
|
NM_021098.3(CACNA1H):c.3854T>A (p.Val1285Asp)
|
rs1359854181
|
|
NM_021098.3(CACNA1H):c.3857C>T (p.Ser1286Phe)
|
rs776740325
|
|
NM_021098.3(CACNA1H):c.3865A>T (p.Lys1289Ter)
|
|
|
NM_021098.3(CACNA1H):c.3867G>C (p.Lys1289Asn)
|
rs375135684
|
|
NM_021098.3(CACNA1H):c.3869T>G (p.Val1290Gly)
|
rs757286114
|
|
NM_021098.3(CACNA1H):c.3877C>G (p.His1293Asp)
|
|
|
NM_021098.3(CACNA1H):c.3878A>C (p.His1293Pro)
|
|
|
NM_021098.3(CACNA1H):c.3883A>G (p.Met1295Val)
|
|
|
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr)
|
rs755717160
|
|
NM_021098.3(CACNA1H):c.3889G>C (p.Asp1297His)
|
rs2141338845
|
|
NM_021098.3(CACNA1H):c.3900C>T (p.Val1300=)
|
rs747491713
|
|
NM_021098.3(CACNA1H):c.3901_3903del (p.Leu1301del)
|
|
|
NM_021098.3(CACNA1H):c.3903C>G (p.Leu1301=)
|
|
|
NM_021098.3(CACNA1H):c.3904G>A (p.Val1302Ile)
|
rs200904795
|
|
NM_021098.3(CACNA1H):c.3906C>G (p.Val1302=)
|
rs775711531
|
|
NM_021098.3(CACNA1H):c.3906C>T (p.Val1302=)
|
rs775711531
|
|
NM_021098.3(CACNA1H):c.3907T>C (p.Phe1303Leu)
|
rs2141339082
|
|
NM_021098.3(CACNA1H):c.390C>A (p.Ser130=)
|
rs59794024
|
|
NM_021098.3(CACNA1H):c.390C>G (p.Ser130=)
|
rs59794024
|
|
NM_021098.3(CACNA1H):c.3916C>G (p.Leu1306Val)
|
|
|
NM_021098.3(CACNA1H):c.3916C>T (p.Leu1306Phe)
|
rs751450496
|
|
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser)
|
rs767633946
|
|
NM_021098.3(CACNA1H):c.3921C>T (p.Asn1307=)
|
rs377019810
|
|
NM_021098.3(CACNA1H):c.3925G>T (p.Val1309Phe)
|
|
|
NM_021098.3(CACNA1H):c.3930C>T (p.Thr1310=)
|
|
|
NM_021098.3(CACNA1H):c.3937C>T (p.Leu1313=)
|
rs757747784
|
|
NM_021098.3(CACNA1H):c.3950A>G (p.Asp1317Gly)
|
|
|
NM_021098.3(CACNA1H):c.3952_3953del (p.Asp1317_Ile1318insTer)
|
|
|
NM_021098.3(CACNA1H):c.395G>A (p.Arg132His)
|
|
|
NM_021098.3(CACNA1H):c.3969+16C>G
|
rs1280107139
|
|
NM_021098.3(CACNA1H):c.3969+16C>T
|
rs1280107139
|
|
NM_021098.3(CACNA1H):c.3969+1G>A
|
rs1303395495
|
|
NM_021098.3(CACNA1H):c.396C>T (p.Arg132=)
|
rs1320328822
|
|
NM_021098.3(CACNA1H):c.3970-15G>A
|
|
|
NM_021098.3(CACNA1H):c.3970-16C>T
|
|
|
NM_021098.3(CACNA1H):c.3970-4G>C
|
|
|
NM_021098.3(CACNA1H):c.3970-8C>G
|
|
|
NM_021098.3(CACNA1H):c.3973C>T (p.Arg1325Trp)
|
rs777616508
|
|
NM_021098.3(CACNA1H):c.3978C>T (p.Val1326=)
|
rs1212594226
|
|
NM_021098.3(CACNA1H):c.3987C>A (p.Ser1329Arg)
|
rs770769436
|
|
NM_021098.3(CACNA1H):c.3990C>T (p.Val1330=)
|
|
|
NM_021098.3(CACNA1H):c.3993C>T (p.Ser1331=)
|
|
|
NM_021098.3(CACNA1H):c.3995A>G (p.Asn1332Ser)
|
rs1969322876
|
|
NM_021098.3(CACNA1H):c.4002C>G (p.Ile1334Met)
|
|
|
NM_021098.3(CACNA1H):c.4007C>A (p.Thr1336Lys)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4007C>T (p.Thr1336Met)
|
rs370725735
|
|
NM_021098.3(CACNA1H):c.4008G>A (p.Thr1336=)
|
rs372696265
|
|
NM_021098.3(CACNA1H):c.4012A>G (p.Ile1338Val)
|
|
|
NM_021098.3(CACNA1H):c.4035G>A (p.Val1345=)
|
rs747258959
|
|
NM_021098.3(CACNA1H):c.4038+13C>T
|
|
|
NM_021098.3(CACNA1H):c.4038+14dup
|
rs775720802
|
|
NM_021098.3(CACNA1H):c.4038+15G>A
|
|
|
NM_021098.3(CACNA1H):c.4038+15G>T
|
rs375169106
|
|
NM_021098.3(CACNA1H):c.4038+17G>T
|
rs578041058
|
|
NM_021098.3(CACNA1H):c.4038+4C>A
|
|
|
NM_021098.3(CACNA1H):c.4038+6G>C
|
rs112068805
|
|
NM_021098.3(CACNA1H):c.4038+8G>T
|
rs555282047
|
|
NM_021098.3(CACNA1H):c.4039-11G>T
|
rs369310607
|
|
NM_021098.3(CACNA1H):c.4039-15A>G
|
|
|
NM_021098.3(CACNA1H):c.4039-16C>T
|
|
|
NM_021098.3(CACNA1H):c.4039-19_4039-18del
|
|
|
NM_021098.3(CACNA1H):c.4039-20G>T
|
|
|
NM_021098.3(CACNA1H):c.4039-20_4039-19delinsAA
|
|
|
NM_021098.3(CACNA1H):c.403A>G (p.Ile135Val)
|
|
|
NM_021098.3(CACNA1H):c.403A>T (p.Ile135Phe)
|
rs1184282257
|
|
NM_021098.3(CACNA1H):c.4050G>A (p.Leu1350=)
|
|
|
NM_021098.3(CACNA1H):c.4072G>C (p.Ala1358Pro)
|
|
|
NM_021098.3(CACNA1H):c.4096C>T (p.Leu1366=)
|
|
|
NM_021098.3(CACNA1H):c.4099C>T (p.Leu1367=)
|
|
|
NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser)
|
rs1270361787
|
|
NM_021098.3(CACNA1H):c.410A>G (p.Glu137Gly)
|
|
|
NM_021098.3(CACNA1H):c.411+18_411+40del
|
|
|
NM_021098.3(CACNA1H):c.411+20G>C
|
|
|
NM_021098.3(CACNA1H):c.411+20G>T
|
|
|
NM_021098.3(CACNA1H):c.4116G>A (p.Val1372=)
|
rs2141343082
|
|
NM_021098.3(CACNA1H):c.412-19C>T
|
|
|
NM_021098.3(CACNA1H):c.412-4G>C
|
rs747026006
|
|
NM_021098.3(CACNA1H):c.412-7C>T
|
|
|
NM_021098.3(CACNA1H):c.4126C>G (p.Leu1376Val)
|
|
|
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
|
|
|
NM_021098.3(CACNA1H):c.4141G>A (p.Val1381Met)
|
|
|
NM_021098.3(CACNA1H):c.4145C>G (p.Ala1382Gly)
|
rs566220434
|
|
NM_021098.3(CACNA1H):c.4162G>A (p.Gly1388Ser)
|
|
|
NM_021098.3(CACNA1H):c.4170G>A (p.Lys1390=)
|
rs2141343609
|
|
NM_021098.3(CACNA1H):c.4173C>T (p.Ile1391=)
|
|
|
NM_021098.3(CACNA1H):c.4174C>T (p.Leu1392=)
|
rs1012227993
|
|
NM_021098.3(CACNA1H):c.417T>C (p.Phe139=)
|
rs2141197568
|
|
NM_021098.3(CACNA1H):c.4188C>T (p.Arg1396=)
|
|
|
NM_021098.3(CACNA1H):c.4196G>A (p.Arg1399His)
|
rs1457901172
|
|
NM_021098.3(CACNA1H):c.4197T>G (p.Arg1399=)
|
|
|
NM_021098.3(CACNA1H):c.4198C>T (p.Leu1400=)
|
rs1175082193
|
|
NM_021098.3(CACNA1H):c.4219C>T (p.Leu1407=)
|
rs1041269521
|
|
NM_021098.3(CACNA1H):c.4223+14_4223+24del
|
|
|
NM_021098.3(CACNA1H):c.4223+15G>C
|
|
|
NM_021098.3(CACNA1H):c.4223+3G>A
|
rs1241517773
|
|
NM_021098.3(CACNA1H):c.4223+6G>T
|
rs1969373645
|
|
NM_021098.3(CACNA1H):c.4223+8del
|
|
|
NM_021098.3(CACNA1H):c.4223+8dup
|
rs545116263
|
|
NM_021098.3(CACNA1H):c.4223+9C>T
|
|
|
NM_021098.3(CACNA1H):c.4224-16C>T
|
|
|
NM_021098.3(CACNA1H):c.4224-17C>A
|
|
|
NM_021098.3(CACNA1H):c.4224-17C>G
|
rs565477632
|
|
NM_021098.3(CACNA1H):c.4224-19A>G
|
|
|
NM_021098.3(CACNA1H):c.4224-6C>G
|
rs72552039
|
|
NM_021098.3(CACNA1H):c.4224-8C>G
|
|
|
NM_021098.3(CACNA1H):c.4224-8C>T
|
|
|
NM_021098.3(CACNA1H):c.4224-9C>G
|
rs1287379368
|
|
NM_021098.3(CACNA1H):c.4224-9C>T
|
rs1287379368
|
|
NM_021098.3(CACNA1H):c.422C>T (p.Ala141Val)
|
|
|
NM_021098.3(CACNA1H):c.4235G>A (p.Arg1412Gln)
|
|
|
NM_021098.3(CACNA1H):c.423C>T (p.Ala141=)
|
|
|
NM_021098.3(CACNA1H):c.4242G>A (p.Pro1414=)
|
|
|
NM_021098.3(CACNA1H):c.4244G>A (p.Gly1415Asp)
|
rs759233103
|
|
NM_021098.3(CACNA1H):c.4245C>A (p.Gly1415=)
|
rs369232507
|
|
NM_021098.3(CACNA1H):c.4245C>T (p.Gly1415=)
|
|
|
NM_021098.3(CACNA1H):c.4246C>T (p.Leu1416Phe)
|
|
|
NM_021098.3(CACNA1H):c.424T>C (p.Phe142Leu)
|
rs2141197660
|
|
NM_021098.3(CACNA1H):c.4263G>A (p.Glu1421=)
|
|
|
NM_021098.3(CACNA1H):c.4269G>C (p.Leu1423=)
|
rs554182970
|
|
NM_021098.3(CACNA1H):c.4278_4279inv (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4279C>T (p.Leu1427Phe)
|
|
|
NM_021098.3(CACNA1H):c.4280T>C (p.Leu1427Pro)
|
|
|
NM_021098.3(CACNA1H):c.4286C>A (p.Pro1429His)
|
|
|
NM_021098.3(CACNA1H):c.4288A>G (p.Ile1430Val)
|
|
|
NM_021098.3(CACNA1H):c.4299C>T (p.Ile1433=)
|
|
|
NM_021098.3(CACNA1H):c.4305C>T (p.Leu1435=)
|
|
|
NM_021098.3(CACNA1H):c.4310G>A (p.Cys1437Tyr)
|
rs2141346266
|
|
NM_021098.3(CACNA1H):c.4314C>A (p.Cys1438Ter)
|
|
|
NM_021098.3(CACNA1H):c.4316C>G (p.Ala1439Gly)
|
|
|
NM_021098.3(CACNA1H):c.4316C>T (p.Ala1439Val)
|
rs1379672193
|
|
NM_021098.3(CACNA1H):c.4317C>T (p.Ala1439=)
|
|
|
NM_021098.3(CACNA1H):c.4318T>A (p.Phe1440Ile)
|
|
|
NM_021098.3(CACNA1H):c.4318_4319delinsGC (p.Phe1440Ala)
|
rs1567541260
|
|
NM_021098.3(CACNA1H):c.4321T>A (p.Phe1441Ile)
|
|
|
NM_021098.3(CACNA1H):c.4327A>C (p.Ile1443Leu)
|
rs777667628
|
|
NM_021098.3(CACNA1H):c.4340T>C (p.Leu1447Ser)
|
|
|
NM_021098.3(CACNA1H):c.4344T>C (p.Gly1448=)
|
|
|
NM_021098.3(CACNA1H):c.4345G>A (p.Val1449Met)
|
rs965904368
|
|
NM_021098.3(CACNA1H):c.4350+13del
|
rs2141346672
|
|
NM_021098.3(CACNA1H):c.4350+19C>T
|
|
|
NM_021098.3(CACNA1H):c.4350+1G>A
|
|
|
NM_021098.3(CACNA1H):c.4351-16C>A
|
|
|
NM_021098.3(CACNA1H):c.4351-16C>T
|
|
|
NM_021098.3(CACNA1H):c.4351-5G>A
|
|
|
NM_021098.3(CACNA1H):c.4353C>T (p.Leu1451=)
|
|
|
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His)
|
|
|
NM_021098.3(CACNA1H):c.4370A>T (p.Tyr1457Phe)
|
rs747837740
|
|
NM_021098.3(CACNA1H):c.4391C>T (p.Thr1464Ile)
|
|
|
NM_021098.3(CACNA1H):c.4393A>G (p.Arg1465Gly)
|
|
|
NM_021098.3(CACNA1H):c.4406C>G (p.Thr1469Ser)
|
|
|
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
|
|
|
NM_021098.3(CACNA1H):c.4425C>A (p.Ala1475=)
|
|
|
NM_021098.3(CACNA1H):c.4425C>T (p.Ala1475=)
|
|
|
NM_021098.3(CACNA1H):c.4430A>G (p.His1477Arg)
|
rs1567542033
|
|
NM_021098.3(CACNA1H):c.4435C>A (p.Arg1479Ser)
|
rs181140276
|
|
NM_021098.3(CACNA1H):c.4435C>T (p.Arg1479Cys)
|
|
|
NM_021098.3(CACNA1H):c.4436G>A (p.Arg1479His)
|
|
|
NM_021098.3(CACNA1H):c.443C>G (p.Ala148Gly)
|
|
|
NM_021098.3(CACNA1H):c.443C>T (p.Ala148Val)
|
rs750887213
|
|
NM_021098.3(CACNA1H):c.4447C>T (p.Arg1483Cys)
|
|
|
NM_021098.3(CACNA1H):c.444G>T (p.Ala148=)
|
rs560099947
|
|
NM_021098.3(CACNA1H):c.4458C>T (p.Asn1486=)
|
|
|
NM_021098.3(CACNA1H):c.4476+11C>T
|
|
|
NM_021098.3(CACNA1H):c.4476+6C>T
|
rs1969458295
|
|
NM_021098.3(CACNA1H):c.4477-10T>C
|
|
|
NM_021098.3(CACNA1H):c.4482G>A (p.Leu1494=)
|
rs767021614
|
|
NM_021098.3(CACNA1H):c.4505C>G (p.Ser1502Cys)
|
rs1969476340
|
|
NM_021098.3(CACNA1H):c.4505C>T (p.Ser1502Phe)
|
|
|
NM_021098.3(CACNA1H):c.4510G>A (p.Asp1504Asn)
|
rs1969476982
|
|
NM_021098.3(CACNA1H):c.4515A>G (p.Gly1505=)
|
|
|
NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp)
|
|
|
NM_021098.3(CACNA1H):c.4542G>A (p.Leu1514=)
|
rs1969479808
|
|
NM_021098.3(CACNA1H):c.4546G>A (p.Ala1516Thr)
|
|
|
NM_021098.3(CACNA1H):c.454G>A (p.Val152Ile)
|
rs1966873640
|
|
NM_021098.3(CACNA1H):c.4555G>A (p.Val1519Ile)
|
rs1462779871
|
|
NM_021098.3(CACNA1H):c.4559A>G (p.Asp1520Gly)
|
|
|
NM_021098.3(CACNA1H):c.455TCA[1] (p.Ile153del)
|
rs775597863
|
|
NM_021098.3(CACNA1H):c.4560C>T (p.Asp1520=)
|
|
|
NM_021098.3(CACNA1H):c.4566+12C>G
|
|
|
NM_021098.3(CACNA1H):c.4566+14G>C
|
|
|
NM_021098.3(CACNA1H):c.4566+17C>T
|
|
|
NM_021098.3(CACNA1H):c.4566+18G>T
|
|
|
NM_021098.3(CACNA1H):c.4566+5G>A
|
|
|
NM_021098.3(CACNA1H):c.4566+8C>T
|
|
|
NM_021098.3(CACNA1H):c.4567-11C>T
|
|
|
NM_021098.3(CACNA1H):c.4567-14C>T
|
|
|
NM_021098.3(CACNA1H):c.4567-6C>T
|
|
|
NM_021098.3(CACNA1H):c.4580A>G (p.His1527Arg)
|
rs2141351607
|
|
NM_021098.3(CACNA1H):c.4585C>T (p.Pro1529Ser)
|
|
|
NM_021098.3(CACNA1H):c.4587C>G (p.Pro1529=)
|
rs1410934715
|
|
NM_021098.3(CACNA1H):c.4588T>C (p.Trp1530Arg)
|
rs1969502459
|
|
NM_021098.3(CACNA1H):c.4592T>G (p.Met1531Arg)
|
rs2141351732
|
|
NM_021098.3(CACNA1H):c.4594C>T (p.Leu1532=)
|
|
|
NM_021098.3(CACNA1H):c.4614C>T (p.Phe1538=)
|
|
|
NM_021098.3(CACNA1H):c.4617G>A (p.Leu1539=)
|
|
|
NM_021098.3(CACNA1H):c.4634T>C (p.Phe1545Ser)
|
rs2141352066
|
|
NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)
|
|
|
NM_021098.3(CACNA1H):c.465G>T (p.Met155Ile)
|
rs1159226662
|
|
NM_021098.3(CACNA1H):c.4665C>T (p.Val1555=)
|
rs752944065
|
|
NM_021098.3(CACNA1H):c.4704G>C (p.Glu1568Asp)
|
rs967037376
|
|
NM_021098.3(CACNA1H):c.4709C>G (p.Ala1570Gly)
|
|
|
NM_021098.3(CACNA1H):c.4709C>T (p.Ala1570Val)
|
rs558718048
|
|
NM_021098.3(CACNA1H):c.4712G>A (p.Arg1571Gln)
|
|
|
NM_021098.3(CACNA1H):c.471C>G (p.Ala157=)
|
rs777692032
|
|
NM_021098.3(CACNA1H):c.471C>T (p.Ala157=)
|
|
|
NM_021098.3(CACNA1H):c.4720GAG[1] (p.Glu1575del)
|
rs1447090901
|
|
NM_021098.3(CACNA1H):c.4723G>A (p.Glu1575Lys)
|
|
|
NM_021098.3(CACNA1H):c.4726A>C (p.Lys1576Gln)
|
|
|
NM_021098.3(CACNA1H):c.4728G>A (p.Lys1576=)
|
rs755610106
|
|
NM_021098.3(CACNA1H):c.472T>C (p.Leu158=)
|
|
|
NM_021098.3(CACNA1H):c.4733T>G (p.Leu1578Arg)
|
rs1969518741
|
|
NM_021098.3(CACNA1H):c.4737G>T (p.Arg1579=)
|
rs201270662
|
|
NM_021098.3(CACNA1H):c.4743A>C (p.Leu1581=)
|
rs1201603119
|
|
NM_021098.3(CACNA1H):c.4743A>G (p.Leu1581=)
|
|
|
NM_021098.3(CACNA1H):c.4752G>T (p.Arg1584Ser)
|
|
|
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu)
|
rs774569737
|
|
NM_021098.3(CACNA1H):c.4759+11C>T
|
|
|
NM_021098.3(CACNA1H):c.4759+12_4759+23del
|
|
|
NM_021098.3(CACNA1H):c.4759+13CGGTGG[2]
|
rs563400847
|
|
NM_021098.3(CACNA1H):c.4759+13CGGTGG[4]
|
rs563400847
|
|
NM_021098.3(CACNA1H):c.4759+17G>A
|
rs1221457861
|
|
NM_021098.3(CACNA1H):c.4759+1G>A
|
rs1406256818
|
|
NM_021098.3(CACNA1H):c.4759+20G>A
|
|
|
NM_021098.3(CACNA1H):c.4759+22_4759+33del
|
|
|
NM_021098.3(CACNA1H):c.4759+4A>G
|
rs1567543703
|
|
NM_021098.3(CACNA1H):c.475G>A (p.Gly159Arg)
|
|
|
NM_021098.3(CACNA1H):c.4760-10G>C
|
|
|
NM_021098.3(CACNA1H):c.4760-16C>T
|
rs762530169
|
|
NM_021098.3(CACNA1H):c.4760-17T>G
|
|
|
NM_021098.3(CACNA1H):c.4760-1G>T
|
rs1173893014
|
|
NM_021098.3(CACNA1H):c.4760-4C>G
|
rs377601289
|
|
NM_021098.3(CACNA1H):c.4760G>A (p.Ser1587Asn)
|
|
|
NM_021098.3(CACNA1H):c.4762A>G (p.Thr1588Ala)
|
rs1555517834
|
|
NM_021098.3(CACNA1H):c.4763C>G (p.Thr1588Ser)
|
rs1596462609
|
|
NM_021098.3(CACNA1H):c.4769C>T (p.Pro1590Leu)
|
rs1969579859
|
|
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn)
|
|
|
NM_021098.3(CACNA1H):c.4777+10C>G
|
rs762322793
|
|
NM_021098.3(CACNA1H):c.4777+11T>A
|
rs763690761
|
|
NM_021098.3(CACNA1H):c.4777+18C>T
|
|
|
NM_021098.3(CACNA1H):c.4777+1G>T
|
|
|
NM_021098.3(CACNA1H):c.4777+5C>G
|
rs370513262
|
|
NM_021098.3(CACNA1H):c.4777+6G>C
|
|
|
NM_021098.3(CACNA1H):c.4777+7G>A
|
rs1283957989
|
|
NM_021098.3(CACNA1H):c.4777+7G>C
|
|
|
NM_021098.3(CACNA1H):c.4778-12C>A
|
|
|
NM_021098.3(CACNA1H):c.4778-13G>C
|
rs757429018
|
|
NM_021098.3(CACNA1H):c.4778-16G>A
|
|
|
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe)
|
rs1555518356
|
|
NM_021098.3(CACNA1H):c.4782C>G (p.Ala1594=)
|
|
|
NM_021098.3(CACNA1H):c.4786C>T (p.Arg1596Cys)
|
rs1248000181
|
|
NM_021098.3(CACNA1H):c.4788C>T (p.Arg1596=)
|
|
|
NM_021098.3(CACNA1H):c.478C>G (p.Leu160Val)
|
|
|
NM_021098.3(CACNA1H):c.4797C>T (p.Tyr1599=)
|
rs1367437480
|
|
NM_021098.3(CACNA1H):c.4803C>G (p.Ala1601=)
|
rs559982155
|
|
NM_021098.3(CACNA1H):c.4803C>T (p.Ala1601=)
|
rs559982155
|
|
NM_021098.3(CACNA1H):c.4804G>T (p.Asp1602Tyr)
|
|
|
NM_021098.3(CACNA1H):c.480G>C (p.Leu160=)
|
rs757136301
|
|
NM_021098.3(CACNA1H):c.4814C>T (p.Pro1605Leu)
|
rs761945003
|
|
NM_021098.3(CACNA1H):c.4819C>A (p.Arg1607Ser)
|
|
|
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His)
|
rs377532485
|
|
NM_021098.3(CACNA1H):c.4821C>T (p.Arg1607=)
|
|
|
NM_021098.3(CACNA1H):c.4824C>G (p.Arg1608=)
|
|
|
NM_021098.3(CACNA1H):c.4824C>T (p.Arg1608=)
|
|
|
NM_021098.3(CACNA1H):c.4832A>C (p.His1611Pro)
|
|
|
NM_021098.3(CACNA1H):c.4833C>T (p.His1611=)
|
|
|
NM_021098.3(CACNA1H):c.4835C>A (p.Ser1612Ter)
|
|
|
NM_021098.3(CACNA1H):c.4836G>T (p.Ser1612=)
|
rs58033848
|
|
NM_021098.3(CACNA1H):c.483C>G (p.Phe161Leu)
|
rs119454947
|
|
NM_021098.3(CACNA1H):c.483C>T (p.Phe161=)
|
|
|
NM_021098.3(CACNA1H):c.4842C>T (p.Cys1614=)
|
|
|
NM_021098.3(CACNA1H):c.4851C>A (p.His1617Gln)
|
|
|
NM_021098.3(CACNA1H):c.4851C>T (p.His1617=)
|
rs534178272
|
|
NM_021098.3(CACNA1H):c.4862T>C (p.Leu1621Pro)
|
rs1969748016
|
|
NM_021098.3(CACNA1H):c.4866C>T (p.Phe1622=)
|
|
|
NM_021098.3(CACNA1H):c.4875C>T (p.Phe1625=)
|
|
|
NM_021098.3(CACNA1H):c.4883G>T (p.Cys1628Phe)
|
|
|
NM_021098.3(CACNA1H):c.4884T>C (p.Cys1628=)
|
|
|
NM_021098.3(CACNA1H):c.4886T>C (p.Val1629Ala)
|
rs1555518486
|
|
NM_021098.3(CACNA1H):c.4890C>T (p.Asn1630=)
|
rs758400171
|
|
NM_021098.3(CACNA1H):c.48C>T (p.Gly16=)
|
rs1450404169
|
|
NM_021098.3(CACNA1H):c.4904C>T (p.Ser1635Phe)
|
rs58146518
|
|
NM_021098.3(CACNA1H):c.4905C>T (p.Ser1635=)
|
|
|
NM_021098.3(CACNA1H):c.4911G>A (p.Glu1637=)
|
|
|
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg)
|
rs1596466547
|
|
NM_021098.3(CACNA1H):c.4926C>T (p.Pro1642=)
|
|
|
NM_021098.3(CACNA1H):c.4927A>C (p.Lys1643Gln)
|
rs766396848
|
|
NM_021098.3(CACNA1H):c.4929+13G>C
|
rs1567547445
|
|
NM_021098.3(CACNA1H):c.4929+14G>T
|
|
|
NM_021098.3(CACNA1H):c.4929+15_4929+25del
|
rs752221447
|
|
NM_021098.3(CACNA1H):c.4929+15_4929+25dup
|
|
|
NM_021098.3(CACNA1H):c.4929+17C>T
|
|
|
NM_021098.3(CACNA1H):c.4929+4G>A
|
rs1969758497
|
|
NM_021098.3(CACNA1H):c.4929+7G>A
|
|
|
NM_021098.3(CACNA1H):c.4929+7_4929+8delinsTG
|
rs2141367669
|
|
NM_021098.3(CACNA1H):c.4929+8C>A
|
rs59027578
|
|
NM_021098.3(CACNA1H):c.4929+8C>T
|
rs59027578
|
|
NM_021098.3(CACNA1H):c.4930-3C>A
|
rs1969886500
|
|
NM_021098.3(CACNA1H):c.4930-3C>T
|
rs1969886500
|
|
NM_021098.3(CACNA1H):c.4930-5C>G
|
|
|
NM_021098.3(CACNA1H):c.4930-7C>A
|
rs1474037310
|
|
NM_021098.3(CACNA1H):c.4932_4933delinsAT (p.Ser1644_Leu1645=)
|
|
|
NM_021098.3(CACNA1H):c.4938C>T (p.Asp1646=)
|
|
|
NM_021098.3(CACNA1H):c.4944C>A (p.Ala1648=)
|
rs1448726368
|
|
NM_021098.3(CACNA1H):c.4945C>T (p.Leu1649Phe)
|
rs1969888724
|
|
NM_021098.3(CACNA1H):c.4947C>G (p.Leu1649=)
|
|
|
NM_021098.3(CACNA1H):c.4950G>A (p.Lys1650=)
|
rs1969889318
|
|
NM_021098.3(CACNA1H):c.4958A>G (p.Asn1653Ser)
|
rs2141374211
|
|
NM_021098.3(CACNA1H):c.4962C>T (p.Tyr1654=)
|
|
|
NM_021098.3(CACNA1H):c.4965C>A (p.Val1655=)
|
|
|
NM_021098.3(CACNA1H):c.4973T>C (p.Ile1658Thr)
|
|
|
NM_021098.3(CACNA1H):c.4983C>T (p.Val1661=)
|
|
|
NM_021098.3(CACNA1H):c.4994C>T (p.Ala1665Val)
|
rs1317563201
|
|
NM_021098.3(CACNA1H):c.5002C>G (p.Leu1668Val)
|
|
|
NM_021098.3(CACNA1H):c.5021G>A (p.Arg1674His)
|
rs369914175
|
|
NM_021098.3(CACNA1H):c.5023C>T (p.Arg1675Trp)
|
rs760740366
|
|
NM_021098.3(CACNA1H):c.5025G>C (p.Arg1675=)
|
rs2141374709
|
|
NM_021098.3(CACNA1H):c.5034G>A (p.Lys1678=)
|
|
|
NM_021098.3(CACNA1H):c.5035G>A (p.Asp1679Asn)
|
|
|
NM_021098.3(CACNA1H):c.5039+17C>T
|
rs201391366
|
|
NM_021098.3(CACNA1H):c.5039+7G>T
|
rs377110506
|
|
NM_021098.3(CACNA1H):c.5040-16G>T
|
rs930079342
|
|
NM_021098.3(CACNA1H):c.5040-19T>C
|
|
|
NM_021098.3(CACNA1H):c.5040-20C>T
|
|
|
NM_021098.3(CACNA1H):c.5062A>G (p.Ile1688Val)
|
|
|
NM_021098.3(CACNA1H):c.5068C>G (p.Leu1690Val)
|
rs755567471
|
|
NM_021098.3(CACNA1H):c.5068C>T (p.Leu1690=)
|
rs755567471
|
|
NM_021098.3(CACNA1H):c.5073G>A (p.Leu1691=)
|
rs371953309
|
|
NM_021098.3(CACNA1H):c.5084G>C (p.Gly1695Ala)
|
rs1969920469
|
|
NM_021098.3(CACNA1H):c.5085C>T (p.Gly1695=)
|
|
|
NM_021098.3(CACNA1H):c.508A>G (p.Thr170Ala)
|
|
|
NM_021098.3(CACNA1H):c.5097G>A (p.Glu1699=)
|
|
|
NM_021098.3(CACNA1H):c.5098G>T (p.Glu1700Ter)
|
rs1555519084
|
|
NM_021098.3(CACNA1H):c.509C>T (p.Thr170Met)
|
|
|
NM_021098.3(CACNA1H):c.5106G>A (p.Glu1702=)
|
rs2141376316
|
|
NM_021098.3(CACNA1H):c.510G>A (p.Thr170=)
|
|
|
NM_021098.3(CACNA1H):c.5124C>T (p.Pro1708=)
|
|
|
NM_021098.3(CACNA1H):c.5127C>T (p.Ile1709=)
|
rs1555519102
|
|
NM_021098.3(CACNA1H):c.5132CCA[1] (p.Thr1712del)
|
rs1596470148
|
|
NM_021098.3(CACNA1H):c.5142C>T (p.Ile1714=)
|
|
|
NM_021098.3(CACNA1H):c.5151G>A (p.Met1717Ile)
|
|
|
NM_021098.3(CACNA1H):c.5154C>T (p.Arg1718=)
|
|
|
NM_021098.3(CACNA1H):c.5164A>G (p.Ile1722Val)
|
|
|
NM_021098.3(CACNA1H):c.5173+12C>T
|
|
|
NM_021098.3(CACNA1H):c.5173+13G>A
|
rs542071111
|
|
NM_021098.3(CACNA1H):c.5173+13G>C
|
rs542071111
|
|
NM_021098.3(CACNA1H):c.5173+19G>A
|
rs753759563
|
|
NM_021098.3(CACNA1H):c.5173+5G>A
|
rs1567550121
|
|
NM_021098.3(CACNA1H):c.5173+5GTGCCCGC[3]
|
|
|
NM_021098.3(CACNA1H):c.5173+9C>G
|
rs1018925405
|
|
NM_021098.3(CACNA1H):c.5174-16C>T
|
rs1483955081
|
|
NM_021098.3(CACNA1H):c.5174-20C>G
|
|
|
NM_021098.3(CACNA1H):c.5174-4dup
|
rs768561419
|
|
NM_021098.3(CACNA1H):c.5174-6C>A
|
|
|
NM_021098.3(CACNA1H):c.5174-8G>A
|
rs200481928
|
|
NM_021098.3(CACNA1H):c.5174-8G>C
|
|
|
NM_021098.3(CACNA1H):c.5174-9C>T
|
|
|
NM_021098.3(CACNA1H):c.5190G>A (p.Lys1730=)
|
rs2141377988
|
|
NM_021098.3(CACNA1H):c.5198C>G (p.Thr1733Arg)
|
|
|
NM_021098.3(CACNA1H):c.5199G>A (p.Thr1733=)
|
|
|
NM_021098.3(CACNA1H):c.519G>C (p.Arg173Ser)
|
rs1567495146
|
|
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys)
|
rs750143885
|
|
NM_021098.3(CACNA1H):c.5212C>T (p.Leu1738=)
|
|
|
NM_021098.3(CACNA1H):c.5217G>A (p.Leu1739=)
|
rs370996432
|
|
NM_021098.3(CACNA1H):c.5236C>G (p.Leu1746Val)
|
|
|
NM_021098.3(CACNA1H):c.5241C>T (p.Pro1747=)
|
rs1969956083
|
|
NM_021098.3(CACNA1H):c.5244+11C>T
|
|
|
NM_021098.3(CACNA1H):c.5244+13C>T
|
|
|
NM_021098.3(CACNA1H):c.5244+14G>C
|
|
|
NM_021098.3(CACNA1H):c.5244+15C>T
|
|
|
NM_021098.3(CACNA1H):c.5245-10T>C
|
|
|
NM_021098.3(CACNA1H):c.5245-11C>G
|
rs150441087
|
|
NM_021098.3(CACNA1H):c.5245-11C>T
|
rs150441087
|
|
NM_021098.3(CACNA1H):c.5245-14TC[2]
|
rs748281496
|
|
NM_021098.3(CACNA1H):c.5245-16C>T
|
|
|
NM_021098.3(CACNA1H):c.5255T>C (p.Leu1752Pro)
|
rs1970075682
|
|
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
|
|
|
NM_021098.3(CACNA1H):c.5274C>G (p.Leu1758=)
|
|
|
NM_021098.3(CACNA1H):c.5274_5276del (p.Leu1759del)
|
rs1567552660
|
|
NM_021098.3(CACNA1H):c.5286C>T (p.Ile1762=)
|
rs1596473364
|
|
NM_021098.3(CACNA1H):c.5291C>T (p.Ala1764Val)
|
rs200775729
|
|
NM_021098.3(CACNA1H):c.5295G>T (p.Ala1765=)
|
|
|
NM_021098.3(CACNA1H):c.5323+12C>G
|
rs776271153
|
|
NM_021098.3(CACNA1H):c.5323+15C>T
|
|
|
NM_021098.3(CACNA1H):c.5323+16G>A
|
|
|
NM_021098.3(CACNA1H):c.5323+20T>C
|
|
|
NM_021098.3(CACNA1H):c.5324-16G>A
|
rs374872701
|
|
NM_021098.3(CACNA1H):c.5324-16G>T
|
rs374872701
|
|
NM_021098.3(CACNA1H):c.5324-7C>A
|
|
|
NM_021098.3(CACNA1H):c.5330G>T (p.Ser1777Ile)
|
rs1439949443
|
|
NM_021098.3(CACNA1H):c.5335G>T (p.Asp1779Tyr)
|
rs551983302
|
|
NM_021098.3(CACNA1H):c.5343C>T (p.Pro1781=)
|
|
|
NM_021098.3(CACNA1H):c.5347G>A (p.Glu1783Lys)
|
rs1354832663
|
|
NM_021098.3(CACNA1H):c.534C>T (p.Ile178=)
|
|
|
NM_021098.3(CACNA1H):c.5352C>T (p.Gly1784=)
|
|
|
NM_021098.3(CACNA1H):c.5353C>T (p.Leu1785=)
|
|
|
NM_021098.3(CACNA1H):c.5364C>G (p.His1788Gln)
|
rs769283823
|
|
NM_021098.3(CACNA1H):c.5367C>T (p.Ala1789=)
|
rs868670809
|
|
NM_021098.3(CACNA1H):c.5370C>T (p.Thr1790=)
|
|
|
NM_021098.3(CACNA1H):c.5372T>A (p.Phe1791Tyr)
|
|
|
NM_021098.3(CACNA1H):c.5374A>G (p.Ser1792Gly)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.5374A>T (p.Ser1792Cys)
|
rs773893318
|
|
NM_021098.3(CACNA1H):c.537C>T (p.Val179=)
|
rs368785828
|
|
NM_021098.3(CACNA1H):c.5400G>A (p.Thr1800=)
|
|
|
NM_021098.3(CACNA1H):c.5400G>T (p.Thr1800=)
|
|
|
NM_021098.3(CACNA1H):c.5406C>A (p.Phe1802Leu)
|
rs537055062
|
|
NM_021098.3(CACNA1H):c.5410G>A (p.Val1804Met)
|
|
|
NM_021098.3(CACNA1H):c.5412G>A (p.Val1804=)
|
rs1474330900
|
|
NM_021098.3(CACNA1H):c.5428T>C (p.Trp1810Arg)
|
rs2141392324
|
|
NM_021098.3(CACNA1H):c.5436G>A (p.Gly1812=)
|
|
|
NM_021098.3(CACNA1H):c.5445+11C>T
|
|
|
NM_021098.3(CACNA1H):c.5445+15C>A
|
|
|
NM_021098.3(CACNA1H):c.5445+17T>C
|
rs1455671585
|
|
NM_021098.3(CACNA1H):c.5445+19C>A
|
|
|
NM_021098.3(CACNA1H):c.5445+20C>G
|
|
|
NM_021098.3(CACNA1H):c.5445+4C>A
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+4C>G
|
rs147142971
|
|
NM_021098.3(CACNA1H):c.5445+5C>T
|
rs963438880
|
|
NM_021098.3(CACNA1H):c.5446-14G>C
|
|
|
NM_021098.3(CACNA1H):c.5446-19C>T
|
|
|
NM_021098.3(CACNA1H):c.5446-9C>A
|
rs1596475466
|
|
NM_021098.3(CACNA1H):c.545+10G>A
|
rs748867788
|
|
NM_021098.3(CACNA1H):c.545+12C>T
|
|
|
NM_021098.3(CACNA1H):c.545+20G>T
|
|
|
NM_021098.3(CACNA1H):c.5455C>T (p.Arg1819Cys)
|
|
|
NM_021098.3(CACNA1H):c.5457C>T (p.Arg1819=)
|
rs749678010
|
|
NM_021098.3(CACNA1H):c.546-14G>T
|
rs779875096
|
|
NM_021098.3(CACNA1H):c.546-15C>T
|
|
|
NM_021098.3(CACNA1H):c.546-2A>G
|
|
|
NM_021098.3(CACNA1H):c.546-3dup
|
|
|
NM_021098.3(CACNA1H):c.5463C>T (p.Cys1821=)
|
rs1328976081
|
|
NM_021098.3(CACNA1H):c.5465C>G (p.Ser1822Cys)
|
rs1970194241
|
|
NM_021098.3(CACNA1H):c.5473G>A (p.Asp1825Asn)
|
rs2141393648
|
|
NM_021098.3(CACNA1H):c.5476A>G (p.Lys1826Glu)
|
|
|
NM_021098.3(CACNA1H):c.547A>T (p.Met183Leu)
|
rs763029586
|
|
NM_021098.3(CACNA1H):c.5480A>G (p.His1827Arg)
|
rs202070652
|
|
NM_021098.3(CACNA1H):c.5485C>G (p.Leu1829Val)
|
|
|
NM_021098.3(CACNA1H):c.5490C>T (p.Ser1830=)
|
rs776339332
|
|
NM_021098.3(CACNA1H):c.5494C>G (p.Leu1832Val)
|
rs61732194
|
|
NM_021098.3(CACNA1H):c.54G>A (p.Pro18=)
|
|
|
NM_021098.3(CACNA1H):c.54G>T (p.Pro18=)
|
|
|
NM_021098.3(CACNA1H):c.5501C>T (p.Ala1834Val)
|
|
|
NM_021098.3(CACNA1H):c.5502C>T (p.Ala1834=)
|
|
|
NM_021098.3(CACNA1H):c.5506T>C (p.Ser1836Pro)
|
|
|
NM_021098.3(CACNA1H):c.5514C>G (p.Val1838=)
|
|
|
NM_021098.3(CACNA1H):c.5530G>A (p.Val1844Met)
|
|
|
NM_021098.3(CACNA1H):c.5539_5556dup (p.Ala1847_Val1852dup)
|
rs2141394048
|
|
NM_021098.3(CACNA1H):c.5548G>T (p.Val1850Leu)
|
rs986566182
|
|
NM_021098.3(CACNA1H):c.5556G>A (p.Val1852=)
|
|
|
NM_021098.3(CACNA1H):c.5560G>T (p.Val1854Leu)
|
|
|
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
|
|
|
NM_021098.3(CACNA1H):c.5574G>A (p.Val1858=)
|
rs2141394320
|
|
NM_021098.3(CACNA1H):c.5582A>G (p.Lys1861Arg)
|
rs2141394365
|
|
NM_021098.3(CACNA1H):c.5587C>T (p.Leu1863=)
|
|
|
NM_021098.3(CACNA1H):c.5596A>C (p.Ser1866Arg)
|
|
|
NM_021098.3(CACNA1H):c.5619T>C (p.Asp1873=)
|
|
|
NM_021098.3(CACNA1H):c.5628G>C (p.Leu1876=)
|
rs1284603054
|
|
NM_021098.3(CACNA1H):c.562_564del (p.Leu188del)
|
|
|
NM_021098.3(CACNA1H):c.5631C>T (p.Asp1877=)
|
|
|
NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys)
|
|
|
NM_021098.3(CACNA1H):c.5653G>A (p.Ala1885Thr)
|
|
|
NM_021098.3(CACNA1H):c.5655G>T (p.Ala1885=)
|
rs58632975
|
|
NM_021098.3(CACNA1H):c.5657A>G (p.Gln1886Arg)
|
|
|
NM_021098.3(CACNA1H):c.5659G>A (p.Gly1887Ser)
|
|
|
NM_021098.3(CACNA1H):c.5661C>T (p.Gly1887=)
|
rs2141394888
|
|
NM_021098.3(CACNA1H):c.5664C>G (p.Pro1888=)
|
rs761380706
|
|
NM_021098.3(CACNA1H):c.5674C>A (p.Arg1892Ser)
|
rs1292896960
|
|
NM_021098.3(CACNA1H):c.5674C>T (p.Arg1892Cys)
|
|
|
NM_021098.3(CACNA1H):c.5675G>A (p.Arg1892His)
|
rs58667649
|
|
NM_021098.3(CACNA1H):c.5675G>T (p.Arg1892Leu)
|
rs58667649
|
|
NM_021098.3(CACNA1H):c.567C>G (p.Asp189Glu)
|
rs1175587489
|
|
NM_021098.3(CACNA1H):c.5683G>C (p.Asp1895His)
|
|
|
NM_021098.3(CACNA1H):c.5686G>A (p.Ala1896Thr)
|
rs1324632906
|
|
NM_021098.3(CACNA1H):c.568G>A (p.Gly190Arg)
|
|
|
NM_021098.3(CACNA1H):c.5691C>A (p.Asp1897Glu)
|
|
|
NM_021098.3(CACNA1H):c.5698C>T (p.Pro1900Ser)
|
|
|
NM_021098.3(CACNA1H):c.5700C>G (p.Pro1900=)
|
rs546638839
|
|
NM_021098.3(CACNA1H):c.5710G>T (p.Glu1904Ter)
|
rs1172357662
|
|
NM_021098.3(CACNA1H):c.5722G>A (p.Ala1908Thr)
|
|
|
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
|
|
|
NM_021098.3(CACNA1H):c.5724C>T (p.Ala1908=)
|
|
|
NM_021098.3(CACNA1H):c.5729_5730inv (p.Asp1910Gly)
|
|
|
NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His)
|
|
|
NM_021098.3(CACNA1H):c.5752A>G (p.Lys1918Glu)
|
rs1555520320
|
|
NM_021098.3(CACNA1H):c.5760C>G (p.Ser1920=)
|
rs144424401
|
|
NM_021098.3(CACNA1H):c.5772G>A (p.Met1924Ile)
|
rs931586782
|
|
NM_021098.3(CACNA1H):c.5773C>T (p.Leu1925Phe)
|
rs1366597055
|
|
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.577G>C (p.Val193Leu)
|
|
|
NM_021098.3(CACNA1H):c.577G>T (p.Val193Leu)
|
rs778637721
|
|
NM_021098.3(CACNA1H):c.5783C>T (p.Pro1928Leu)
|
|
|
NM_021098.3(CACNA1H):c.5784C>G (p.Pro1928=)
|
rs767261951
|
|
NM_021098.3(CACNA1H):c.5784C>T (p.Pro1928=)
|
|
|
NM_021098.3(CACNA1H):c.5786A>G (p.Asn1929Ser)
|
|
|
NM_021098.3(CACNA1H):c.579G>A (p.Val193=)
|
rs2141202280
|
|
NM_021098.3(CACNA1H):c.5802C>A (p.Phe1934Leu)
|
rs746487526
|
|
NM_021098.3(CACNA1H):c.5804G>A (p.Arg1935Lys)
|
|
|
NM_021098.3(CACNA1H):c.5807C>A (p.Pro1936His)
|
|
|
NM_021098.3(CACNA1H):c.5822C>G (p.Ser1941Trp)
|
rs1291910282
|
|
NM_021098.3(CACNA1H):c.5824G>T (p.Ala1942Ser)
|
rs1970223117
|
|
NM_021098.3(CACNA1H):c.5830C>T (p.His1944Tyr)
|
rs1413245721
|
|
NM_021098.3(CACNA1H):c.5833C>T (p.Pro1945Ser)
|
|
|
NM_021098.3(CACNA1H):c.5837G>A (p.Arg1946His)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.5837G>T (p.Arg1946Leu)
|
rs376984823
|
|
NM_021098.3(CACNA1H):c.583_584delinsGC (p.Leu195Ala)
|
|
|
NM_021098.3(CACNA1H):c.5844G>C (p.Leu1948=)
|
|
|
NM_021098.3(CACNA1H):c.5846A>T (p.Gln1949Leu)
|
|
|
NM_021098.3(CACNA1H):c.5855A>T (p.Glu1952Val)
|
rs1970226967
|
|
NM_021098.3(CACNA1H):c.5869G>A (p.Gly1957Arg)
|
|
|
NM_021098.3(CACNA1H):c.5871G>A (p.Gly1957=)
|
|
|
NM_021098.3(CACNA1H):c.5873C>T (p.Ala1958Val)
|
rs780614055
|
|
NM_021098.3(CACNA1H):c.5875G>A (p.Gly1959Ser)
|
|
|
NM_021098.3(CACNA1H):c.5887+10_5887+20del
|
rs1290317498
|
|
NM_021098.3(CACNA1H):c.5887+11C>T
|
|
|
NM_021098.3(CACNA1H):c.5887+15A>G
|
|
|
NM_021098.3(CACNA1H):c.5887+19A>G
|
|
|
NM_021098.3(CACNA1H):c.5887+5G>T
|
|
|
NM_021098.3(CACNA1H):c.5888-17A>G
|
|
|
NM_021098.3(CACNA1H):c.5888-18G>T
|
|
|
NM_021098.3(CACNA1H):c.5888-3del
|
|
|
NM_021098.3(CACNA1H):c.5888G>C (p.Gly1963Ala)
|
|
|
NM_021098.3(CACNA1H):c.588G>A (p.Ser196=)
|
|
|
NM_021098.3(CACNA1H):c.588G>C (p.Ser196=)
|
rs749822770
|
|
NM_021098.3(CACNA1H):c.5906A>G (p.His1969Arg)
|
rs996694379
|
|
NM_021098.3(CACNA1H):c.5920G>A (p.Glu1974Lys)
|
rs2141398956
|
|
NM_021098.3(CACNA1H):c.5927G>T (p.Cys1976Phe)
|
rs550577430
|
|
NM_021098.3(CACNA1H):c.5934C>G (p.Ser1978=)
|
|
|
NM_021098.3(CACNA1H):c.5935C>G (p.Leu1979Val)
|
|
|
NM_021098.3(CACNA1H):c.5935C>T (p.Leu1979Phe)
|
|
|
NM_021098.3(CACNA1H):c.5937C>T (p.Leu1979=)
|
|
|
NM_021098.3(CACNA1H):c.5946A>G (p.Pro1982=)
|
|
|
NM_021098.3(CACNA1H):c.5958G>T (p.Ser1986=)
|
|
|
NM_021098.3(CACNA1H):c.5970G>A (p.Arg1990=)
|
rs1567556646
|
|
NM_021098.3(CACNA1H):c.5970G>T (p.Arg1990Ser)
|
rs1567556646
|
|
NM_021098.3(CACNA1H):c.5973C>A (p.Ser1991Arg)
|
rs753397534
|
|
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser)
|
rs558813483
|
|
NM_021098.3(CACNA1H):c.5974G>C (p.Gly1992Arg)
|
|
|
NM_021098.3(CACNA1H):c.5983C>T (p.Leu1995Phe)
|
rs549364922
|
|
NM_021098.3(CACNA1H):c.5996C>G (p.Ser1999Cys)
|
|
|
NM_021098.3(CACNA1H):c.5996C>T (p.Ser1999Phe)
|
rs1037177615
|
|
NM_021098.3(CACNA1H):c.599C>T (p.Thr200Ile)
|
|
|
NM_021098.3(CACNA1H):c.59C>G (p.Pro20Arg)
|
|
|
NM_021098.3(CACNA1H):c.5C>A (p.Thr2Asn)
|
|
|
NM_021098.3(CACNA1H):c.6001C>G (p.Arg2001Gly)
|
|
|
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln)
|
rs200399120
|
|
NM_021098.3(CACNA1H):c.6002G>T (p.Arg2001Leu)
|
rs200399120
|
|
NM_021098.3(CACNA1H):c.6004G>A (p.Gly2002Ser)
|
|
|
NM_021098.3(CACNA1H):c.6007_6015del (p.Thr2003_Arg2005del)
|
|
|
NM_021098.3(CACNA1H):c.6009A>T (p.Thr2003=)
|
|
|
NM_021098.3(CACNA1H):c.600C>T (p.Thr200=)
|
|
|
NM_021098.3(CACNA1H):c.6011C>A (p.Ala2004Asp)
|
|
|
NM_021098.3(CACNA1H):c.6013C>A (p.Arg2005Ser)
|
rs72552056
|
|
NM_021098.3(CACNA1H):c.6014G>T (p.Arg2005Leu)
|
rs368553931
|
|
NM_021098.3(CACNA1H):c.6021C>T (p.Pro2007=)
|
|
|
NM_021098.3(CACNA1H):c.6025C>G (p.Leu2009Val)
|
rs1970273640
|
|
NM_021098.3(CACNA1H):c.6031C>A (p.Arg2011=)
|
|
|
NM_021098.3(CACNA1H):c.6031C>T (p.Arg2011Trp)
|
rs753241781
|
|
NM_021098.3(CACNA1H):c.6032G>C (p.Arg2011Pro)
|
|
|
NM_021098.3(CACNA1H):c.6039C>T (p.Leu2013=)
|
|
|
NM_021098.3(CACNA1H):c.6048+12C>A
|
|
|
NM_021098.3(CACNA1H):c.6048+17G>A
|
|
|
NM_021098.3(CACNA1H):c.6048+17del
|
rs3833845
|
|
NM_021098.3(CACNA1H):c.6048+2_6048+5del
|
rs1172256364
|
|
NM_021098.3(CACNA1H):c.6049-12A>G
|
|
|
NM_021098.3(CACNA1H):c.6049-19T>C
|
|
|
NM_021098.3(CACNA1H):c.6049-7C>G
|
rs1970353381
|
|
NM_021098.3(CACNA1H):c.6049-8C>T
|
|
|
NM_021098.3(CACNA1H):c.6056T>C (p.Val2019Ala)
|
rs2141405874
|
|
NM_021098.3(CACNA1H):c.6057G>A (p.Val2019=)
|
|
|
NM_021098.3(CACNA1H):c.6061A>G (p.Thr2021Ala)
|
|
|
NM_021098.3(CACNA1H):c.6063C>T (p.Thr2021=)
|
rs780400494
|
|
NM_021098.3(CACNA1H):c.6067T>G (p.Ser2023Ala)
|
|
|
NM_021098.3(CACNA1H):c.6068C>A (p.Ser2023Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6069C>T (p.Ser2023=)
|
|
|
NM_021098.3(CACNA1H):c.6084T>A (p.Ile2028=)
|
rs1596479765
|
|
NM_021098.3(CACNA1H):c.6088A>G (p.Ser2030Gly)
|
rs748236037
|
|
NM_021098.3(CACNA1H):c.6089G>A (p.Ser2030Asn)
|
|
|
NM_021098.3(CACNA1H):c.6090C>T (p.Ser2030=)
|
|
|
NM_021098.3(CACNA1H):c.6103C>G (p.Leu2035Val)
|
rs746778552
|
|
NM_021098.3(CACNA1H):c.6107A>C (p.Asp2036Ala)
|
|
|
NM_021098.3(CACNA1H):c.6107A>G (p.Asp2036Gly)
|
|
|
NM_021098.3(CACNA1H):c.610C>T (p.Leu204=)
|
rs2141202599
|
|
NM_021098.3(CACNA1H):c.6115G>A (p.Glu2039Lys)
|
rs1555520783
|
|
NM_021098.3(CACNA1H):c.6117G>T (p.Glu2039Asp)
|
|
|
NM_021098.3(CACNA1H):c.6120T>C (p.Pro2040=)
|
rs1596479859
|
|
NM_021098.3(CACNA1H):c.6131C>A (p.Thr2044Asn)
|
rs1567558436
|
|
NM_021098.3(CACNA1H):c.613C>T (p.Arg205Trp)
|
|
|
NM_021098.3(CACNA1H):c.6143C>G (p.Pro2048Arg)
|
|
|
NM_021098.3(CACNA1H):c.6143_6144delinsTT (p.Pro2048Leu)
|
rs2141406634
|
|
NM_021098.3(CACNA1H):c.6145G>A (p.Val2049Met)
|
rs756418923
|
|
NM_021098.3(CACNA1H):c.6159C>A (p.Gly2053=)
|
rs755452106
|
|
NM_021098.3(CACNA1H):c.6161C>T (p.Ser2054Phe)
|
|
|
NM_021098.3(CACNA1H):c.6174A>C (p.Pro2058=)
|
rs748190834
|
|
NM_021098.3(CACNA1H):c.617C>G (p.Pro206Arg)
|
rs1005279922
|
|
NM_021098.3(CACNA1H):c.6180C>T (p.Arg2060=)
|
|
|
NM_021098.3(CACNA1H):c.6185C>T (p.Pro2062Leu)
|
rs2141407028
|
|
NM_021098.3(CACNA1H):c.6187C>G (p.Arg2063Gly)
|
|
|
NM_021098.3(CACNA1H):c.6187C>T (p.Arg2063Trp)
|
rs373707854
|
|
NM_021098.3(CACNA1H):c.618C>G (p.Pro206=)
|
|
|
NM_021098.3(CACNA1H):c.618C>T (p.Pro206=)
|
|
|
NM_021098.3(CACNA1H):c.6195_6196insT (p.Ser2066Ter)
|
|
|
NM_021098.3(CACNA1H):c.6200T>C (p.Val2067Ala)
|
rs1970366026
|
|
NM_021098.3(CACNA1H):c.6202C>T (p.Arg2068Cys)
|
rs759853744
|
|
NM_021098.3(CACNA1H):c.6203G>A (p.Arg2068His)
|
rs765706404
|
|
NM_021098.3(CACNA1H):c.6207T>C (p.Thr2069=)
|
rs1970366738
|
|
NM_021098.3(CACNA1H):c.6208C>G (p.Arg2070Gly)
|
rs758461760
|
|
NM_021098.3(CACNA1H):c.6209G>A (p.Arg2070His)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6209G>C (p.Arg2070Pro)
|
rs777897759
|
|
NM_021098.3(CACNA1H):c.6229_6230delinsTA (p.Arg2077Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6233G>A (p.Cys2078Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6234C>G (p.Cys2078Trp)
|
|
|
NM_021098.3(CACNA1H):c.6244C>A (p.Arg2082=)
|
rs771719773
|
|
NM_021098.3(CACNA1H):c.6253G>C (p.Ala2085Pro)
|
rs1555520840
|
|
NM_021098.3(CACNA1H):c.6255C>T (p.Ala2085=)
|
rs751609693
|
|
NM_021098.3(CACNA1H):c.6257C>T (p.Pro2086Leu)
|
|
|
NM_021098.3(CACNA1H):c.6260G>A (p.Gly2087Asp)
|
|
|
NM_021098.3(CACNA1H):c.6273_6276dup (p.Ala2093fs)
|
|
|
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)
|
rs371550084
|
|
NM_021098.3(CACNA1H):c.6282G>C (p.Ser2094=)
|
|
|
NM_021098.3(CACNA1H):c.6286C>A (p.Pro2096Thr)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6286C>T (p.Pro2096Ser)
|
rs1179774948
|
|
NM_021098.3(CACNA1H):c.6290C>A (p.Ala2097Asp)
|
|
|
NM_021098.3(CACNA1H):c.6290C>T (p.Ala2097Val)
|
|
|
NM_021098.3(CACNA1H):c.6292G>A (p.Asp2098Asn)
|
|
|
NM_021098.3(CACNA1H):c.6296AGG[1] (p.Glu2100del)
|
rs1567559045
|
|
NM_021098.3(CACNA1H):c.6297G>C (p.Glu2099Asp)
|
|
|
NM_021098.3(CACNA1H):c.6298G>A (p.Glu2100Lys)
|
|
|
NM_021098.3(CACNA1H):c.6301G>A (p.Val2101Ile)
|
rs1970373796
|
|
NM_021098.3(CACNA1H):c.6312C>T (p.Ile2104=)
|
rs1224881281
|
|
NM_021098.3(CACNA1H):c.6344C>A (p.Ala2115Asp)
|
rs183014006
|
|
NM_021098.3(CACNA1H):c.6345C>A (p.Ala2115=)
|
rs529859576
|
|
NM_021098.3(CACNA1H):c.634C>A (p.Arg212Ser)
|
rs370434906
|
|
NM_021098.3(CACNA1H):c.634C>T (p.Arg212Cys)
|
rs370434906
|
|
NM_021098.3(CACNA1H):c.6357C>T (p.Gly2119=)
|
rs754165259
|
|
NM_021098.3(CACNA1H):c.6358C>T (p.Pro2120Ser)
|
|
|
NM_021098.3(CACNA1H):c.637G>T (p.Val213Leu)
|
rs772154386
|
|
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val)
|
rs769490814
|
|
NM_021098.3(CACNA1H):c.6387G>C (p.Glu2129Asp)
|
rs1970381464
|
|
NM_021098.3(CACNA1H):c.6397C>T (p.Arg2133Cys)
|
|
|
NM_021098.3(CACNA1H):c.6398G>T (p.Arg2133Leu)
|
rs752385455
|
|
NM_021098.3(CACNA1H):c.6405C>G (p.Leu2135=)
|
|
|
NM_021098.3(CACNA1H):c.6408C>T (p.Tyr2136=)
|
|
|
NM_021098.3(CACNA1H):c.6417_6418inv (p.Ala2140Thr)
|
|
|
NM_021098.3(CACNA1H):c.6420T>C (p.Ala2140=)
|
|
|
NM_021098.3(CACNA1H):c.642T>C (p.Pro214=)
|
|
|
NM_021098.3(CACNA1H):c.643+14C>T
|
|
|
NM_021098.3(CACNA1H):c.643+15C>A
|
rs59026203
|
|
NM_021098.3(CACNA1H):c.643+19C>A
|
rs754111189
|
|
NM_021098.3(CACNA1H):c.643+3A>G
|
|
|
NM_021098.3(CACNA1H):c.643+8A>G
|
|
|
NM_021098.3(CACNA1H):c.643+9C>T
|
|
|
NM_021098.3(CACNA1H):c.6431T>C (p.Leu2144Pro)
|
rs1970385250
|
|
NM_021098.3(CACNA1H):c.6433G>T (p.Asp2145Tyr)
|
rs1319777512
|
|
NM_021098.3(CACNA1H):c.6435del (p.Asp2145fs)
|
|
|
NM_021098.3(CACNA1H):c.644-14C>T
|
|
|
NM_021098.3(CACNA1H):c.644-19C>T
|
|
|
NM_021098.3(CACNA1H):c.6440C>A (p.Pro2147Gln)
|
|
|
NM_021098.3(CACNA1H):c.6445C>G (p.Arg2149Gly)
|
|
|
NM_021098.3(CACNA1H):c.6445C>T (p.Arg2149Trp)
|
rs752621913
|
|
NM_021098.3(CACNA1H):c.6454G>A (p.Glu2152Lys)
|
rs761679939
|
|
NM_021098.3(CACNA1H):c.6456G>A (p.Glu2152=)
|
rs1970387497
|
|
NM_021098.3(CACNA1H):c.6459G>A (p.Gln2153=)
|
|
|
NM_021098.3(CACNA1H):c.645C>T (p.Ser215=)
|
rs1171444249
|
|
NM_021098.3(CACNA1H):c.6463C>T (p.Arg2155Trp)
|
|
|
NM_021098.3(CACNA1H):c.6465G>T (p.Arg2155=)
|
|
|
NM_021098.3(CACNA1H):c.6471G>A (p.Ser2157=)
|
|
|
NM_021098.3(CACNA1H):c.6473C>T (p.Ala2158Val)
|
|
|
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp)
|
|
|
NM_021098.3(CACNA1H):c.6493C>G (p.Pro2165Ala)
|
|
|
NM_021098.3(CACNA1H):c.6497G>C (p.Gly2166Ala)
|
|
|
NM_021098.3(CACNA1H):c.6498G>A (p.Gly2166=)
|
|
|
NM_021098.3(CACNA1H):c.6503C>T (p.Ala2168Val)
|
|
|
NM_021098.3(CACNA1H):c.6507G>A (p.Lys2169=)
|
rs1555521007
|
|
NM_021098.3(CACNA1H):c.650G>A (p.Arg217Gln)
|
|
|
NM_021098.3(CACNA1H):c.651G>A (p.Arg217=)
|
rs1455037011
|
|
NM_021098.3(CACNA1H):c.6525C>G (p.Ala2175=)
|
rs1329243659
|
|
NM_021098.3(CACNA1H):c.6525C>T (p.Ala2175=)
|
|
|
NM_021098.3(CACNA1H):c.6526G>C (p.Glu2176Gln)
|
rs768826048
|
|
NM_021098.3(CACNA1H):c.6539G>A (p.Gly2180Asp)
|
|
|
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
|
|
|
NM_021098.3(CACNA1H):c.6551AGA[2] (p.Lys2186del)
|
rs766893201
|
|
NM_021098.3(CACNA1H):c.6554A>G (p.Lys2185Arg)
|
|
|
NM_021098.3(CACNA1H):c.6565C>G (p.Pro2189Ala)
|
|
|
NM_021098.3(CACNA1H):c.6565C>T (p.Pro2189Ser)
|
rs538538654
|
|
NM_021098.3(CACNA1H):c.6568C>G (p.Pro2190Ala)
|
|
|
NM_021098.3(CACNA1H):c.6569C>T (p.Pro2190Leu)
|
|
|
NM_021098.3(CACNA1H):c.6570C>A (p.Pro2190=)
|
rs1046847004
|
|
NM_021098.3(CACNA1H):c.657G>A (p.Leu219=)
|
rs376669194
|
|
NM_021098.3(CACNA1H):c.6581_6583del (p.Val2194del)
|
rs763914077
|
|
NM_021098.3(CACNA1H):c.6583G>A (p.Glu2195Lys)
|
rs1555521047
|
|
NM_021098.3(CACNA1H):c.6587C>G (p.Pro2196Arg)
|
rs1265575905
|
|
NM_021098.3(CACNA1H):c.6595G>A (p.Glu2199Lys)
|
rs2141410625
|
|
NM_021098.3(CACNA1H):c.65C>G (p.Pro22Arg)
|
|
|
NM_021098.3(CACNA1H):c.6606C>A (p.Gly2202=)
|
rs1233255850
|
|
NM_021098.3(CACNA1H):c.6614G>A (p.Arg2205Gln)
|
|
|
NM_021098.3(CACNA1H):c.6621C>G (p.Ser2207=)
|
rs371375487
|
|
NM_021098.3(CACNA1H):c.6621C>T (p.Ser2207=)
|
rs371375487
|
|
NM_021098.3(CACNA1H):c.662C>T (p.Thr221Ile)
|
rs1368252007
|
|
NM_021098.3(CACNA1H):c.6630_6639dup (p.Thr2214fs)
|
|
|
NM_021098.3(CACNA1H):c.6632G>A (p.Gly2211Asp)
|
|
|
NM_021098.3(CACNA1H):c.6633dup (p.Gly2212fs)
|
|
|
NM_021098.3(CACNA1H):c.6634G>A (p.Gly2212Ser)
|
|
|
NM_021098.3(CACNA1H):c.6636C>T (p.Gly2212=)
|
|
|
NM_021098.3(CACNA1H):c.6642C>T (p.Thr2214=)
|
rs1555521091
|
|
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
|
|
|
NM_021098.3(CACNA1H):c.6661C>G (p.Pro2221Ala)
|
rs1596481482
|
|
NM_021098.3(CACNA1H):c.6662C>G (p.Pro2221Arg)
|
|
|
NM_021098.3(CACNA1H):c.6665C>A (p.Ser2222Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6678_6704dup (p.Pro2227_Thr2235dup)
|
rs2141411243
|
|
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe)
|
rs746267333
|
|
NM_021098.3(CACNA1H):c.6693C>T (p.Ser2231=)
|
rs756073800
|
|
NM_021098.3(CACNA1H):c.6700C>T (p.Pro2234Ser)
|
|
|
NM_021098.3(CACNA1H):c.6703A>G (p.Thr2235Ala)
|
|
|
NM_021098.3(CACNA1H):c.6714A>C (p.Ser2238=)
|
rs1970410954
|
|
NM_021098.3(CACNA1H):c.6714A>G (p.Ser2238=)
|
|
|
NM_021098.3(CACNA1H):c.6717_6893del (p.Gly2241_Ala2299del)
|
|
|
NM_021098.3(CACNA1H):c.6720C>T (p.Ala2240=)
|
rs375725132
|
|
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg)
|
rs200606995
|
|
NM_021098.3(CACNA1H):c.6723G>C (p.Gly2241=)
|
|
|
NM_021098.3(CACNA1H):c.6724G>A (p.Gly2242Arg)
|
rs776025785
|
|
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=)
|
rs58682447
|
|
NM_021098.3(CACNA1H):c.6726_6727dup (p.Asp2243fs)
|
|
|
NM_021098.3(CACNA1H):c.6727G>A (p.Asp2243Asn)
|
rs764148791
|
|
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs)
|
rs753624103
|
|
NM_021098.3(CACNA1H):c.6729C>T (p.Asp2243=)
|
rs534649086
|
|
NM_021098.3(CACNA1H):c.6739A>G (p.Lys2247Glu)
|
rs1386122386
|
|
NM_021098.3(CACNA1H):c.6748C>A (p.Arg2250Ser)
|
rs375586314
|
|
NM_021098.3(CACNA1H):c.6749G>T (p.Arg2250Leu)
|
|
|
NM_021098.3(CACNA1H):c.6760G>T (p.Ala2254Ser)
|
|
|
NM_021098.3(CACNA1H):c.6766T>C (p.Cys2256Arg)
|
rs2141412071
|
|
NM_021098.3(CACNA1H):c.6766T>G (p.Cys2256Gly)
|
|
|
NM_021098.3(CACNA1H):c.6767G>A (p.Cys2256Tyr)
|
|
|
NM_021098.3(CACNA1H):c.6770G>C (p.Arg2257Pro)
|
|
|
NM_021098.3(CACNA1H):c.6776A>C (p.Glu2259Ala)
|
|
|
NM_021098.3(CACNA1H):c.677C>T (p.Thr226Met)
|
rs770952533
|
|
NM_021098.3(CACNA1H):c.6780C>G (p.His2260Gln)
|
|
|
NM_021098.3(CACNA1H):c.6792C>T (p.Pro2264=)
|
rs1292750287
|
|
NM_021098.3(CACNA1H):c.6794G>A (p.Ser2265Asn)
|
|
|
NM_021098.3(CACNA1H):c.6813G>A (p.Leu2271=)
|
rs2141412462
|
|
NM_021098.3(CACNA1H):c.6818T>A (p.Leu2273His)
|
rs943817403
|
|
NM_021098.3(CACNA1H):c.6820G>A (p.Gly2274Arg)
|
rs1267207816
|
|
NM_021098.3(CACNA1H):c.6821G>T (p.Gly2274Val)
|
|
|
NM_021098.3(CACNA1H):c.6822G>A (p.Gly2274=)
|
|
|
NM_021098.3(CACNA1H):c.6823G>T (p.Val2275Phe)
|
|
|
NM_021098.3(CACNA1H):c.6826C>T (p.Pro2276Ser)
|
rs1398479650
|
|
NM_021098.3(CACNA1H):c.6831T>C (p.Ser2277=)
|
rs772341545
|
|
NM_021098.3(CACNA1H):c.6838C>G (p.Pro2280Ala)
|
rs760918600
|
|
NM_021098.3(CACNA1H):c.6848A>G (p.Asp2283Gly)
|
rs58597457
|
|
NM_021098.3(CACNA1H):c.6850G>A (p.Gly2284Ser)
|
|
|
NM_021098.3(CACNA1H):c.6855C>A (p.Ser2285Arg)
|
rs757900694
|
|
NM_021098.3(CACNA1H):c.6858C>T (p.His2286=)
|
rs1468998569
|
|
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
|
|
|
NM_021098.3(CACNA1H):c.6862G>A (p.Val2288Met)
|
|
|
NM_021098.3(CACNA1H):c.6869C>T (p.Pro2290Leu)
|
rs1970426412
|
|
NM_021098.3(CACNA1H):c.6876C>T (p.Ser2292=)
|
|
|
NM_021098.3(CACNA1H):c.6881C>T (p.Ala2294Val)
|
rs540026021
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
|
|
|
NM_021098.3(CACNA1H):c.6890C>T (p.Ser2297Leu)
|
|
|
NM_021098.3(CACNA1H):c.6898_6905del (p.Ile2300fs)
|
|
|
NM_021098.3(CACNA1H):c.6899T>C (p.Ile2300Thr)
|
rs774338957
|
|
NM_021098.3(CACNA1H):c.6900A>T (p.Ile2300=)
|
rs762822116
|
|
NM_021098.3(CACNA1H):c.6904C>T (p.Pro2302Ser)
|
|
|
NM_021098.3(CACNA1H):c.690C>G (p.Leu230=)
|
|
|
NM_021098.3(CACNA1H):c.6911A>G (p.Glu2304Gly)
|
rs1970429885
|
|
NM_021098.3(CACNA1H):c.6912A>C (p.Glu2304Asp)
|
|
|
NM_021098.3(CACNA1H):c.6913C>A (p.Pro2305Thr)
|
|
|
NM_021098.3(CACNA1H):c.6916C>G (p.Pro2306Ala)
|
rs761917566
|
|
NM_021098.3(CACNA1H):c.6924A>G (p.Ser2308=)
|
|
|
NM_021098.3(CACNA1H):c.6929C>T (p.Pro2310Leu)
|
rs2141413399
|
|
NM_021098.3(CACNA1H):c.692G>T (p.Gly231Val)
|
|
|
NM_021098.3(CACNA1H):c.6950C>A (p.Pro2317His)
|
rs1442700966
|
|
NM_021098.3(CACNA1H):c.6953dup (p.Glu2319fs)
|
rs750261505
|
|
NM_021098.3(CACNA1H):c.6958_6959del (p.Lys2320fs)
|
|
|
NM_021098.3(CACNA1H):c.6959A>G (p.Lys2320Arg)
|
rs2141413668
|
|
NM_021098.3(CACNA1H):c.6971T>G (p.Leu2324Arg)
|
rs1596482455
|
|
NM_021098.3(CACNA1H):c.6975C>T (p.Tyr2325=)
|
|
|
NM_021098.3(CACNA1H):c.6986C>T (p.Pro2329Leu)
|
|
|
NM_021098.3(CACNA1H):c.6994C>T (p.Pro2332Ser)
|
|
|
NM_021098.3(CACNA1H):c.7000G>T (p.Glu2334Ter)
|
|
|
NM_021098.3(CACNA1H):c.7009G>T (p.Gly2337Trp)
|
|
|
NM_021098.3(CACNA1H):c.7013C>A (p.Ser2338Tyr)
|
rs757713867
|
|
NM_021098.3(CACNA1H):c.7015C>T (p.Pro2339Ser)
|
|
|
NM_021098.3(CACNA1H):c.7023C>G (p.Ala2341=)
|
|
|
NM_021098.3(CACNA1H):c.7025C>T (p.Thr2342Ile)
|
rs1970440739
|
|
NM_021098.3(CACNA1H):c.7026C>T (p.Thr2342=)
|
rs745960698
|
|
NM_021098.3(CACNA1H):c.7034C>T (p.Pro2345Leu)
|
rs1194032246
|
|
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala)
|
rs765057432
|
|
NM_021098.3(CACNA1H):c.7037G>T (p.Gly2346Val)
|
|
|
NM_021098.3(CACNA1H):c.7039G>A (p.Gly2347Ser)
|
|
|
NM_021098.3(CACNA1H):c.703C>T (p.Leu235=)
|
rs1967297712
|
|
NM_021098.3(CACNA1H):c.7041T>C (p.Gly2347=)
|
|
|
NM_021098.3(CACNA1H):c.7047_*15dup (p.Ala2349_Ter(2354_?)(?))
|
|
|
NM_021098.3(CACNA1H):c.7057G>C (p.Val2353Leu)
|
rs150601404
|
|
NM_021098.3(CACNA1H):c.7057G>T (p.Val2353Leu)
|
rs150601404
|
|
NM_021098.3(CACNA1H):c.705G>C (p.Leu235=)
|
rs368520506
|
|
NM_021098.3(CACNA1H):c.708G>T (p.Leu236=)
|
rs2141220799
|
|
NM_021098.3(CACNA1H):c.717C>T (p.Phe239=)
|
|
|
NM_021098.3(CACNA1H):c.718G>C (p.Val240Leu)
|
rs369630836
|
|
NM_021098.3(CACNA1H):c.720C>T (p.Val240=)
|
|
|
NM_021098.3(CACNA1H):c.721TTC[1] (p.Phe242del)
|
rs748582978
|
|
NM_021098.3(CACNA1H):c.723C>G (p.Phe241Leu)
|
rs770535441
|
|
NM_021098.3(CACNA1H):c.723C>T (p.Phe241=)
|
|
|
NM_021098.3(CACNA1H):c.73T>G (p.Leu25Val)
|
rs2151603406
|
|
NM_021098.3(CACNA1H):c.744C>T (p.Gly248=)
|
|
|
NM_021098.3(CACNA1H):c.752T>C (p.Leu251Pro)
|
|
|
NM_021098.3(CACNA1H):c.753C>G (p.Leu251=)
|
rs2141221266
|
|
NM_021098.3(CACNA1H):c.757G>A (p.Ala253Thr)
|
|
|
NM_021098.3(CACNA1H):c.75G>A (p.Leu25=)
|
|
|
NM_021098.3(CACNA1H):c.762C>T (p.Gly254=)
|
|
|
NM_021098.3(CACNA1H):c.765C>T (p.Leu255=)
|
rs778810951
|
|
NM_021098.3(CACNA1H):c.780C>T (p.Cys260=)
|
rs1257224911
|
|
NM_021098.3(CACNA1H):c.785T>C (p.Leu262Pro)
|
rs570282553
|
|
NM_021098.3(CACNA1H):c.790A>G (p.Ser264Gly)
|
rs745571869
|
|
NM_021098.3(CACNA1H):c.795C>G (p.Ala265=)
|
|
|
NM_021098.3(CACNA1H):c.803+17C>G
|
|
|
NM_021098.3(CACNA1H):c.803+18C>T
|
|
|
NM_021098.3(CACNA1H):c.803+20G>A
|
|
|
NM_021098.3(CACNA1H):c.803+9G>A
|
rs1567502713
|
|
NM_021098.3(CACNA1H):c.804-10C>T
|
|
|
NM_021098.3(CACNA1H):c.804-12G>T
|
|
|
NM_021098.3(CACNA1H):c.804-15T>C
|
rs2141241218
|
|
NM_021098.3(CACNA1H):c.804-16C>T
|
|
|
NM_021098.3(CACNA1H):c.804-4C>G
|
|
|
NM_021098.3(CACNA1H):c.804-6C>T
|
|
|
NM_021098.3(CACNA1H):c.804-9C>T
|
|
|
NM_021098.3(CACNA1H):c.81G>A (p.Gly27=)
|
rs2151603478
|
|
NM_021098.3(CACNA1H):c.831G>A (p.Pro277=)
|
rs374861940
|
|
NM_021098.3(CACNA1H):c.831G>C (p.Pro277=)
|
rs374861940
|
|
NM_021098.3(CACNA1H):c.836A>G (p.Tyr279Cys)
|
rs1364510020
|
|
NM_021098.3(CACNA1H):c.842C>G (p.Thr281Arg)
|
|
|
NM_021098.3(CACNA1H):c.849G>A (p.Glu283=)
|
rs1056868756
|
|
NM_021098.3(CACNA1H):c.850G>A (p.Gly284Ser)
|
|
|
NM_021098.3(CACNA1H):c.852C>T (p.Gly284=)
|
|
|
NM_021098.3(CACNA1H):c.856G>A (p.Glu286Lys)
|
|
|
NM_021098.3(CACNA1H):c.861C>T (p.Asn287=)
|
|
|
NM_021098.3(CACNA1H):c.864G>A (p.Pro288=)
|
rs369201438
|
|
NM_021098.3(CACNA1H):c.864G>C (p.Pro288=)
|
rs369201438
|
|
NM_021098.3(CACNA1H):c.870C>T (p.Ile290=)
|
rs373205962
|
|
NM_021098.3(CACNA1H):c.875C>T (p.Ser292Phe)
|
|
|
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro)
|
rs2141242222
|
|
NM_021098.3(CACNA1H):c.884G>T (p.Arg295Leu)
|
rs749305814
|
|
NM_021098.3(CACNA1H):c.892G>A (p.Gly298Ser)
|
|
|
NM_021098.3(CACNA1H):c.894C>T (p.Gly298=)
|
rs2141242375
|
|
NM_021098.3(CACNA1H):c.895A>T (p.Met299Leu)
|
rs1219214145
|
|
NM_021098.3(CACNA1H):c.899A>G (p.Gln300Arg)
|
rs1195218337
|
|
NM_021098.3(CACNA1H):c.908C>G (p.Ser303Trp)
|
rs867008505
|
|
NM_021098.3(CACNA1H):c.90G>A (p.Pro30=)
|
|
|
NM_021098.3(CACNA1H):c.913A>G (p.Ile305Val)
|
|
|
NM_021098.3(CACNA1H):c.915C>A (p.Ile305=)
|
|
|
NM_021098.3(CACNA1H):c.925C>T (p.Arg309Cys)
|
|
|
NM_021098.3(CACNA1H):c.927C>A (p.Arg309=)
|
|
|
NM_021098.3(CACNA1H):c.936C>A (p.Arg312=)
|
rs780299000
|
|
NM_021098.3(CACNA1H):c.941C>G (p.Pro314Arg)
|
|
|
NM_021098.3(CACNA1H):c.948C>A (p.Thr316=)
|
rs1243283601
|
|
NM_021098.3(CACNA1H):c.948C>T (p.Thr316=)
|
rs1243283601
|
|
NM_021098.3(CACNA1H):c.949C>T (p.Leu317=)
|
|
|
NM_021098.3(CACNA1H):c.956G>C (p.Trp319Ser)
|
|
|
NM_021098.3(CACNA1H):c.963C>T (p.Ala321=)
|
|
|
NM_021098.3(CACNA1H):c.965A>T (p.Tyr322Phe)
|
|
|
NM_021098.3(CACNA1H):c.967A>G (p.Thr323Ala)
|
|
|
NM_021098.3(CACNA1H):c.969G>C (p.Thr323=)
|
|
|
NM_021098.3(CACNA1H):c.975G>A (p.Pro325=)
|
|
|
NM_021098.3(CACNA1H):c.975G>T (p.Pro325=)
|
rs771782530
|
|
NM_021098.3(CACNA1H):c.981C>T (p.Ala327=)
|
rs761021717
|
|
NM_021098.3(CACNA1H):c.982G>A (p.Glu328Lys)
|
|
|
NM_021098.3(CACNA1H):c.986G>T (p.Gly329Val)
|
|
|
NM_021098.3(CACNA1H):c.987G>A (p.Gly329=)
|
|
|
NM_021098.3(CACNA1H):c.987G>T (p.Gly329=)
|
|
|
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met)
|
rs752653043
|
|
NM_021098.3(CACNA1H):c.989T>C (p.Val330Ala)
|
|
|
NM_021098.3(CACNA1H):c.993C>T (p.Gly331=)
|
rs770821118
|
|
NM_021098.3(CACNA1H):c.999A>G (p.Ala333=)
|
rs529471626
|
|
NM_021098.3(CACNA1H):c.99C>T (p.Pro33=)
|
|
|
NM_021912.5(GABRB3):c.2T>C (p.Met1Thr)
|
rs1595364724
|
|
NM_145893.3(RBFOX1):c.18A>T (p.Gly6=)
|
|
|
NM_145893.3(RBFOX1):c.22C>G (p.Leu8Val)
|
rs1389613810
|
|
NM_145893.3(RBFOX1):c.24C>T (p.Leu8=)
|
rs1159971428
|
|
NM_145893.3(RBFOX1):c.35A>G (p.Tyr12Cys)
|
|
|
NM_145893.3(RBFOX1):c.38G>T (p.Gly13Val)
|
|
|
NM_145893.3(RBFOX1):c.46A>G (p.Met16Val)
|
rs779418628
|
|
NM_145893.3(RBFOX1):c.4C>G (p.Leu2Val)
|
rs1196867548
|
|
NM_145893.3(RBFOX1):c.54A>G (p.Val18=)
|
rs770264923
|
|
NM_145893.3(RBFOX1):c.56C>G (p.Pro19Arg)
|
rs376061440
|
|
NM_145893.3(RBFOX1):c.56C>T (p.Pro19Leu)
|
rs376061440
|
|
NM_145893.3(RBFOX1):c.68A>G (p.Tyr23Cys)
|
rs1603623680
|
|
NM_145893.3(RBFOX1):c.69C>A (p.Tyr23Ter)
|
rs1378405539
|
|
NM_145893.3(RBFOX1):c.69C>T (p.Tyr23=)
|
rs1378405539
|
|
NM_145893.3(RBFOX1):c.70C>G (p.Leu24Val)
|
rs765010942
|
|
NM_145893.3(RBFOX1):c.75T>C (p.Pro25=)
|
rs2144461588
|
|
NM_145893.3(RBFOX1):c.76G>A (p.Gly26Arg)
|
|
|
NM_145893.3(RBFOX1):c.76G>T (p.Gly26Ter)
|
rs1180011308
|
|
NM_145893.3(RBFOX1):c.85C>T (p.Gln29Ter)
|
rs754561652
|
|
NM_145893.3(RBFOX1):c.86A>G (p.Gln29Arg)
|
|
|
NM_145893.3(RBFOX1):c.87+2T>C
|
rs1240585365
|
|
NM_145893.3(RBFOX1):c.953_962del (p.Val318fs)
|
|
|
NM_145893.3(RBFOX1):c.957G>A (p.Val319=)
|
|
|
NM_145893.3(RBFOX1):c.970G>C (p.Val324Leu)
|
|
|
NM_145893.3(RBFOX1):c.989T>G (p.Leu330Arg)
|
|
|
NM_145893.3(RBFOX1):c.993+1G>A
|
rs760593868
|
|
NM_198904.4(GABRG2):c.1001C>T (p.Ala334Val)
|
rs1415043929
|
|
NM_198904.4(GABRG2):c.1007A>G (p.Asp336Gly)
|
rs1060501890
|
|
NM_198904.4(GABRG2):c.1008T>A (p.Asp336Glu)
|
|
|
NM_198904.4(GABRG2):c.1010T>G (p.Leu337Arg)
|
rs1765180862
|
|
NM_198904.4(GABRG2):c.1012T>C (p.Phe338Leu)
|
rs1765181104
|
|
NM_198904.4(GABRG2):c.1025G>A (p.Cys342Tyr)
|
rs2113633149
|
|
NM_198904.4(GABRG2):c.1025del (p.Cys342fs)
|
rs1060501889
|
|
NM_198904.4(GABRG2):c.102C>T (p.Tyr34=)
|
rs780713471
|
|
NM_198904.4(GABRG2):c.1035del (p.Phe345fs)
|
rs1581453822
|
|
NM_198904.4(GABRG2):c.1036G>T (p.Val346Phe)
|
|
|
NM_198904.4(GABRG2):c.1037T>G (p.Val346Gly)
|
|
|
NM_198904.4(GABRG2):c.1045G>A (p.Ala349Thr)
|
rs756959300
|
|
NM_198904.4(GABRG2):c.1046C>A (p.Ala349Asp)
|
|
|
NM_198904.4(GABRG2):c.104C>T (p.Pro35Leu)
|
|
|
NM_198904.4(GABRG2):c.1056G>A (p.Glu352=)
|
rs2113633277
|
|
NM_198904.4(GABRG2):c.1057T>C (p.Tyr353His)
|
|
|
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val)
|
rs1060501888
|
|
NM_198904.4(GABRG2):c.106G>A (p.Gly36Ser)
|
rs866056788
|
|
NM_198904.4(GABRG2):c.107+13C>A
|
|
|
NM_198904.4(GABRG2):c.107+15T>G
|
|
|
NM_198904.4(GABRG2):c.107+1G>A
|
rs1758364128
|
|
NM_198904.4(GABRG2):c.107+6A>G
|
rs868452487
|
|
NM_198904.4(GABRG2):c.107+6A>T
|
|
|
NM_198904.4(GABRG2):c.107+8G>A
|
rs2113081716
|
|
NM_198904.4(GABRG2):c.107G>A (p.Gly36Asp)
|
rs1266267390
|
|
NM_198904.4(GABRG2):c.108-12G>A
|
|
|
NM_198904.4(GABRG2):c.108-14A>G
|
|
|
NM_198904.4(GABRG2):c.108-15T>C
|
|
|
NM_198904.4(GABRG2):c.108-17A>G
|
rs2113297683
|
|
NM_198904.4(GABRG2):c.1087C>G (p.Arg363Gly)
|
rs374512652
|
|
NM_198904.4(GABRG2):c.1087del (p.Arg363fs)
|
rs1765186475
|
|
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del)
|
rs727503941
|
|
NM_198904.4(GABRG2):c.1115A>G (p.Lys372Arg)
|
rs1765190002
|
|
NM_198904.4(GABRG2):c.1116GAA[1] (p.Lys374del)
|
|
|
NM_198904.4(GABRG2):c.1127C>T (p.Pro376Leu)
|
|
|
NM_198904.4(GABRG2):c.1128+11T>C
|
|
|
NM_198904.4(GABRG2):c.1128+6T>C
|
|
|
NM_198904.4(GABRG2):c.1153-11C>A
|
|
|
NM_198904.4(GABRG2):c.1153-15C>G
|
|
|
NM_198904.4(GABRG2):c.1153-17C>T
|
|
|
NM_198904.4(GABRG2):c.1153-2A>G
|
rs1554101185
|
|
NM_198904.4(GABRG2):c.1153-4C>G
|
|
|
NM_198904.4(GABRG2):c.1153-8C>G
|
rs771660227
|
|
NM_198904.4(GABRG2):c.1156C>G (p.Pro386Ala)
|
|
|
NM_198904.4(GABRG2):c.1173C>A (p.Arg391=)
|
|
|
NM_198904.4(GABRG2):c.1181C>A (p.Ser394Ter)
|
|
|
NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)
|
|
|
NM_198904.4(GABRG2):c.1197G>T (p.Met399Ile)
|
rs1581462722
|
|
NM_198904.4(GABRG2):c.1202dup (p.Asn401fs)
|
|
|
NM_198904.4(GABRG2):c.1203T>C (p.Asn401=)
|
|
|
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)
|
|
|
NM_198904.4(GABRG2):c.1217_1218del (p.Gln406fs)
|
rs1554101202
|
|
NM_198904.4(GABRG2):c.1224_1225insCA (p.Asp409fs)
|
rs2113650735
|
|
NM_198904.4(GABRG2):c.1236C>A (p.Tyr412Ter)
|
|
|
NM_198904.4(GABRG2):c.1237G>A (p.Gly413Ser)
|
|
|
NM_198904.4(GABRG2):c.1268C>T (p.Ala423Val)
|
|
|
NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del)
|
rs769160013
|
|
NM_198904.4(GABRG2):c.1271G>T (p.Ser424Ile)
|
|
|
NM_198904.4(GABRG2):c.1277T>C (p.Phe426Ser)
|
rs2113650980
|
|
NM_198904.4(GABRG2):c.1277_1278insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTCTTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCCAGTTTTTT (p.Phe426_Cys427insPhePhePhePhePhePheXaaXaaXaaXaaPhePhePhePheSerPhePhePheTyrPhePheIlePhePhePhePhePheIleIleLeuTer)
|
|
|
NM_198904.4(GABRG2):c.1277del (p.Phe426fs)
|
rs1285618109
|
|
NM_198904.4(GABRG2):c.1279T>C (p.Cys427Arg)
|
rs1200142311
|
|
NM_198904.4(GABRG2):c.1282T>C (p.Cys428Arg)
|
|
|
NM_198904.4(GABRG2):c.128A>T (p.Asp43Val)
|
|
|
NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe)
|
|
|
NM_198904.4(GABRG2):c.1297C>T (p.Arg433Ter)
|
rs1554101224
|
|
NM_198904.4(GABRG2):c.1302A>T (p.Thr434=)
|
|
|
NM_198904.4(GABRG2):c.1305A>G (p.Gly435=)
|
rs2113651080
|
|
NM_198904.4(GABRG2):c.1313G>A (p.Arg438Lys)
|
rs796052514
|
|
NM_198904.4(GABRG2):c.1318G>A (p.Gly440Arg)
|
|
|
NM_198904.4(GABRG2):c.1324A>G (p.Ile442Val)
|
|
|
NM_198904.4(GABRG2):c.1331T>C (p.Ile444Thr)
|
rs1765504023
|
|
NM_198904.4(GABRG2):c.1333C>T (p.Arg445Cys)
|
rs1561662358
|
|
NM_198904.4(GABRG2):c.1334G>T (p.Arg445Leu)
|
rs587780341
|
|
NM_198904.4(GABRG2):c.1337T>A (p.Ile446Asn)
|
rs2113651245
|
|
NM_198904.4(GABRG2):c.1348G>A (p.Asp450Asn)
|
|
|
NM_198904.4(GABRG2):c.1348G>C (p.Asp450His)
|
|
|
NM_198904.4(GABRG2):c.134A>G (p.Asp45Gly)
|
|
|
NM_198904.4(GABRG2):c.1353del (p.Tyr452fs)
|
|
|
NM_198904.4(GABRG2):c.1357del (p.Ala453fs)
|
|
|
NM_198904.4(GABRG2):c.1358C>A (p.Ala453Asp)
|
|
|
NM_198904.4(GABRG2):c.1358C>T (p.Ala453Val)
|
rs2113651364
|
|
NM_198904.4(GABRG2):c.1359T>G (p.Ala453=)
|
|
|
NM_198904.4(GABRG2):c.1360C>T (p.Arg454Trp)
|
rs796052515
|
|
NM_198904.4(GABRG2):c.1361G>A (p.Arg454Gln)
|
rs904388241
|
|
NM_198904.4(GABRG2):c.1362G>C (p.Arg454=)
|
rs2113651413
|
|
NM_198904.4(GABRG2):c.1365C>A (p.Ile455=)
|
rs1242649084
|
|
NM_198904.4(GABRG2):c.1367_1370del (p.Phe456fs)
|
|
|
NM_198904.4(GABRG2):c.1383C>G (p.Phe461Leu)
|
rs1765508103
|
|
NM_198904.4(GABRG2):c.1393A>T (p.Asn465Tyr)
|
rs1581463309
|
|
NM_198904.4(GABRG2):c.1398G>T (p.Leu466=)
|
rs1581463326
|
|
NM_198904.4(GABRG2):c.1400T>G (p.Val467Gly)
|
|
|
NM_198904.4(GABRG2):c.1404T>C (p.Tyr468=)
|
rs1220037383
|
|
NM_198904.4(GABRG2):c.1405T>C (p.Trp469Arg)
|
rs2113651577
|
|
NM_198904.4(GABRG2):c.1409T>C (p.Val470Ala)
|
|
|
NM_198904.4(GABRG2):c.140A>G (p.Glu47Gly)
|
rs1760798437
|
|
NM_198904.4(GABRG2):c.1415dup (p.Tyr472Ter)
|
rs1210628894
|
|
NM_198904.4(GABRG2):c.141A>G (p.Glu47=)
|
|
|
NM_198904.4(GABRG2):c.1422C>T (p.Tyr474=)
|
|
|
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=)
|
rs886060383
|
|
NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)
|
|
|
NM_198904.4(GABRG2):c.150T>A (p.Ala50=)
|
|
|
NM_198904.4(GABRG2):c.168C>T (p.Val56=)
|
rs2113298209
|
|
NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)
|
|
|
NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)
|
|
|
NM_198904.4(GABRG2):c.179A>T (p.Lys60Ile)
|
|
|
NM_198904.4(GABRG2):c.184C>G (p.Pro62Ala)
|
rs1184632361
|
|
NM_198904.4(GABRG2):c.185C>G (p.Pro62Arg)
|
rs771317794
|
|
NM_198904.4(GABRG2):c.185C>T (p.Pro62Leu)
|
rs771317794
|
|
NM_198904.4(GABRG2):c.189G>C (p.Glu63Asp)
|
rs774756037
|
|
NM_198904.4(GABRG2):c.206T>C (p.Ile69Thr)
|
|
|
NM_198904.4(GABRG2):c.216C>A (p.Asn72Lys)
|
|
|
NM_198904.4(GABRG2):c.230_231del (p.Gly76_Tyr77insTer)
|
|
|
NM_198904.4(GABRG2):c.241C>T (p.Leu81Phe)
|
|
|
NM_198904.4(GABRG2):c.243T>C (p.Leu81=)
|
rs143295869
|
|
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp)
|
rs146470870
|
|
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln)
|
rs121909673
|
|
NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)
|
|
|
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
|
|
|
NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu)
|
rs1760808499
|
|
NM_198904.4(GABRG2):c.251A>T (p.Asp84Val)
|
|
|
NM_198904.4(GABRG2):c.259+1G>C
|
rs2113298764
|
|
NM_198904.4(GABRG2):c.259+2T>A
|
rs2113298770
|
|
NM_198904.4(GABRG2):c.259+2T>C
|
rs2113298770
|
|
NM_198904.4(GABRG2):c.259+5G>A
|
|
|
NM_198904.4(GABRG2):c.25A>C (p.Thr9Pro)
|
rs2113080489
|
|
NM_198904.4(GABRG2):c.260-11T>C
|
|
|
NM_198904.4(GABRG2):c.260-16_260-15del
|
rs747283752
|
|
NM_198904.4(GABRG2):c.260-1G>A
|
rs2113309064
|
|
NM_198904.4(GABRG2):c.260-8C>G
|
rs201449891
|
|
NM_198904.4(GABRG2):c.260-9T>C
|
rs1581345919
|
|
NM_198904.4(GABRG2):c.260T>G (p.Val87Gly)
|
|
|
NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)
|
rs1057520498
|
|
NM_198904.4(GABRG2):c.276T>G (p.Ile92Met)
|
|
|
NM_198904.4(GABRG2):c.287T>C (p.Met96Thr)
|
|
|
NM_198904.4(GABRG2):c.28G>A (p.Gly10Arg)
|
rs1262705178
|
|
NM_198904.4(GABRG2):c.290A>T (p.Tyr97Phe)
|
rs2113309275
|
|
NM_198904.4(GABRG2):c.291T>A (p.Tyr97Ter)
|
|
|
NM_198904.4(GABRG2):c.293T>A (p.Val98Glu)
|
|
|
NM_198904.4(GABRG2):c.299G>T (p.Ser100Ile)
|
|
|
NM_198904.4(GABRG2):c.302T>C (p.Ile101Thr)
|
|
|
NM_198904.4(GABRG2):c.306_311del (p.Pro103_Val104del)
|
|
|
NM_198904.4(GABRG2):c.308C>T (p.Pro103Leu)
|
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_198904.4(GABRG2):c.327+12A>C
|
rs188717038
|
|
NM_198904.4(GABRG2):c.327+12A>G
|
|
|
NM_198904.4(GABRG2):c.327+1del
|
|
|
NM_198904.4(GABRG2):c.327+6T>C
|
rs1760938978
|
|
NM_198904.4(GABRG2):c.328-1G>A
|
|
|
NM_198904.4(GABRG2):c.328-3C>G
|
|
|
NM_198904.4(GABRG2):c.334A>C (p.Thr112Pro)
|
|
|
NM_198904.4(GABRG2):c.339T>C (p.Ile113=)
|
|
|
NM_198904.4(GABRG2):c.33C>T (p.Ser11=)
|
|
|
NM_198904.4(GABRG2):c.349T>G (p.Phe117Val)
|
|
|
NM_198904.4(GABRG2):c.351dup (p.Ala118fs)
|
rs1554097873
|
|
NM_198904.4(GABRG2):c.363G>A (p.Trp121Ter)
|
|
|
NM_198904.4(GABRG2):c.365A>G (p.Tyr122Cys)
|
rs1554097875
|
|
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)
|
rs2113325423
|
|
NM_198904.4(GABRG2):c.374G>A (p.Arg125His)
|
|
|
NM_198904.4(GABRG2):c.381A>G (p.Lys127=)
|
|
|
NM_198904.4(GABRG2):c.386del (p.Asn129fs)
|
|
|
NM_198904.4(GABRG2):c.389G>A (p.Ser130Asn)
|
rs1194428749
|
|
NM_198904.4(GABRG2):c.394A>G (p.Ile132Val)
|
rs752621588
|
|
NM_198904.4(GABRG2):c.3G>T (p.Met1Ile)
|
rs1758351092
|
|
NM_198904.4(GABRG2):c.401T>C (p.Val134Ala)
|
rs2113325670
|
|
NM_198904.4(GABRG2):c.402C>G (p.Val134=)
|
rs562384157
|
|
NM_198904.4(GABRG2):c.403C>T (p.Leu135Phe)
|
rs74930063
|
|
NM_198904.4(GABRG2):c.419A>G (p.Asn140Ser)
|
rs1554097879
|
|
NM_198904.4(GABRG2):c.421A>G (p.Met141Val)
|
|
|
NM_198904.4(GABRG2):c.429dup (p.Lys144fs)
|
rs2113326012
|
|
NM_198904.4(GABRG2):c.432A>C (p.Lys144Asn)
|
rs1761105874
|
|
NM_198904.4(GABRG2):c.441T>C (p.Ile147=)
|
|
|
NM_198904.4(GABRG2):c.445G>C (p.Asp149His)
|
rs2113326238
|
|
NM_198904.4(GABRG2):c.447C>A (p.Asp149Glu)
|
rs1761106635
|
|
NM_198904.4(GABRG2):c.451T>G (p.Phe151Val)
|
rs2113326347
|
|
NM_198904.4(GABRG2):c.452_455del (p.Phe151fs)
|
|
|
NM_198904.4(GABRG2):c.453C>T (p.Phe151=)
|
|
|
NM_198904.4(GABRG2):c.455T>C (p.Phe152Ser)
|
rs1581350948
|
|
NM_198904.4(GABRG2):c.462T>C (p.Asn154=)
|
|
|
NM_198904.4(GABRG2):c.464C>T (p.Ser155Phe)
|
rs267600531
|
|
NM_198904.4(GABRG2):c.471del (p.Ala158fs)
|
rs1554097890
|
|
NM_198904.4(GABRG2):c.476A>C (p.Asp159Ala)
|
|
|
NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)
|
|
|
NM_198904.4(GABRG2):c.495C>A (p.Thr165=)
|
|
|
NM_198904.4(GABRG2):c.496_498dup (p.Pro166dup)
|
rs2113326854
|
|
NM_198904.4(GABRG2):c.498del (p.Asn167fs)
|
rs2113326854
|
|
NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala)
|
rs1429217294
|
|
NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys)
|
rs1581351046
|
|
NM_198904.4(GABRG2):c.504G>C (p.Arg168Ser)
|
|
|
NM_198904.4(GABRG2):c.506T>C (p.Met169Thr)
|
rs2113327195
|
|
NM_198904.4(GABRG2):c.529C>T (p.Arg177Ter)
|
rs267606837
|
|
NM_198904.4(GABRG2):c.530del (p.Arg177fs)
|
rs878854144
|
|
NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)
|
|
|
NM_198904.4(GABRG2):c.548+4T>C
|
|
|
NM_198904.4(GABRG2):c.548+6C>A
|
rs956763211
|
|
NM_198904.4(GABRG2):c.548+8T>C
|
|
|
NM_198904.4(GABRG2):c.548G>T (p.Arg183Met)
|
|
|
NM_198904.4(GABRG2):c.549-1G>T
|
|
|
NM_198904.4(GABRG2):c.549-6A>T
|
|
|
NM_198904.4(GABRG2):c.549G>A (p.Arg183=)
|
rs1761390378
|
|
NM_198904.4(GABRG2):c.550T>A (p.Leu184Met)
|
|
|
NM_198904.4(GABRG2):c.567G>A (p.Glu189=)
|
rs868460983
|
|
NM_198904.4(GABRG2):c.569G>T (p.Cys190Phe)
|
rs2113352368
|
|
NM_198904.4(GABRG2):c.570C>A (p.Cys190Ter)
|
|
|
NM_198904.4(GABRG2):c.573A>G (p.Gln191=)
|
rs1361752531
|
|
NM_198904.4(GABRG2):c.583C>A (p.His195Asn)
|
rs981863613
|
|
NM_198904.4(GABRG2):c.596T>C (p.Met199Thr)
|
rs770506471
|
|
NM_198904.4(GABRG2):c.608C>G (p.Ser203Cys)
|
rs1334273668
|
|
NM_198904.4(GABRG2):c.631+1G>T
|
|
|
NM_198904.4(GABRG2):c.631+4A>C
|
rs1761398393
|
|
NM_198904.4(GABRG2):c.631+5G>C
|
|
|
NM_198904.4(GABRG2):c.631+5_631+8del
|
|
|
NM_198904.4(GABRG2):c.631+6T>C
|
rs1761398589
|
|
NM_198904.4(GABRG2):c.632-16T>C
|
|
|
NM_198904.4(GABRG2):c.632-2A>T
|
rs2113370272
|
|
NM_198904.4(GABRG2):c.632-4G>A
|
|
|
NM_198904.4(GABRG2):c.632-5G>T
|
|
|
NM_198904.4(GABRG2):c.632-7dup
|
|
|
NM_198904.4(GABRG2):c.632-8C>T
|
rs779617978
|
|
NM_198904.4(GABRG2):c.642A>C (p.Pro214=)
|
|
|
NM_198904.4(GABRG2):c.643C>A (p.Arg215Ser)
|
|
|
NM_198904.4(GABRG2):c.644G>C (p.Arg215Pro)
|
rs1561645172
|
|
NM_198904.4(GABRG2):c.644G>T (p.Arg215Leu)
|
rs1561645172
|
|
NM_198904.4(GABRG2):c.650A>G (p.Glu217Gly)
|
rs1761616421
|
|
NM_198904.4(GABRG2):c.654_664del (p.Ile218fs)
|
|
|
NM_198904.4(GABRG2):c.659A>G (p.Tyr220Cys)
|
rs2113370519
|
|
NM_198904.4(GABRG2):c.669G>A (p.Lys223=)
|
|
|
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)
|
rs1045493304
|
|
NM_198904.4(GABRG2):c.671G>A (p.Arg224Gln)
|
|
|
NM_198904.4(GABRG2):c.677_681del (p.Ser225_Ser226insTer)
|
rs1554098222
|
|
NM_198904.4(GABRG2):c.679G>A (p.Val227Ile)
|
|
|
NM_198904.4(GABRG2):c.691G>T (p.Asp231Tyr)
|
|
|
NM_198904.4(GABRG2):c.697del (p.Arg233fs)
|
rs1761620237
|
|
NM_198904.4(GABRG2):c.6T>G (p.Ser2Arg)
|
|
|
NM_198904.4(GABRG2):c.715C>T (p.Gln239Ter)
|
|
|
NM_198904.4(GABRG2):c.71C>A (p.Thr24Lys)
|
rs1060501891
|
|
NM_198904.4(GABRG2):c.71C>G (p.Thr24Arg)
|
rs1060501891
|
|
NM_198904.4(GABRG2):c.721T>G (p.Ser241Ala)
|
|
|
NM_198904.4(GABRG2):c.723A>G (p.Ser241=)
|
rs1761622061
|
|
NM_198904.4(GABRG2):c.727G>A (p.Val243Ile)
|
|
|
NM_198904.4(GABRG2):c.727G>T (p.Val243Phe)
|
rs1287665753
|
|
NM_198904.4(GABRG2):c.72G>C (p.Thr24=)
|
rs1343042707
|
|
NM_198904.4(GABRG2):c.733C>T (p.Leu245=)
|
|
|
NM_198904.4(GABRG2):c.744C>T (p.Thr248=)
|
|
|
NM_198904.4(GABRG2):c.748G>A (p.Glu250Lys)
|
rs549251133
|
|
NM_198904.4(GABRG2):c.748G>T (p.Glu250Ter)
|
rs549251133
|
|
NM_198904.4(GABRG2):c.761C>T (p.Thr254Ile)
|
rs1761625389
|
|
NM_198904.4(GABRG2):c.762A>G (p.Thr254=)
|
|
|
NM_198904.4(GABRG2):c.765T>G (p.Thr255=)
|
rs2113371201
|
|
NM_198904.4(GABRG2):c.769+17A>G
|
|
|
NM_198904.4(GABRG2):c.769+1G>A
|
rs2113371247
|
|
NM_198904.4(GABRG2):c.769+2T>C
|
|
|
NM_198904.4(GABRG2):c.769+5G>C
|
rs1761626533
|
|
NM_198904.4(GABRG2):c.769+8_769+9delinsAA
|
|
|
NM_198904.4(GABRG2):c.769+9C>A
|
rs1761626925
|
|
NM_198904.4(GABRG2):c.769G>A (p.Gly257Arg)
|
rs1554098235
|
|
NM_198904.4(GABRG2):c.76T>G (p.Trp26Gly)
|
|
|
NM_198904.4(GABRG2):c.770-17T>C
|
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|
NM_198904.4(GABRG2):c.770-17T>G
|
|
|
NM_198904.4(GABRG2):c.770-9C>A
|
|
|
NM_198904.4(GABRG2):c.774T>C (p.Asp258=)
|
|
|
NM_198904.4(GABRG2):c.776A>G (p.Tyr259Cys)
|
|
|
NM_198904.4(GABRG2):c.782del (p.Val261fs)
|
|
|
NM_198904.4(GABRG2):c.801T>C (p.Asp267=)
|
|
|
NM_198904.4(GABRG2):c.804G>A (p.Leu268=)
|
|
|
NM_198904.4(GABRG2):c.817G>T (p.Gly273Ter)
|
rs1469287853
|
|
NM_198904.4(GABRG2):c.831C>T (p.Ile277=)
|
rs1764620798
|
|
NM_198904.4(GABRG2):c.835A>G (p.Thr279Ala)
|
|
|
NM_198904.4(GABRG2):c.836C>T (p.Thr279Ile)
|
rs1254425203
|
|
NM_198904.4(GABRG2):c.838T>G (p.Tyr280Asp)
|
rs1581439671
|
|
NM_198904.4(GABRG2):c.839A>G (p.Tyr280Cys)
|
|
|
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=)
|
rs558779533
|
|
NM_198904.4(GABRG2):c.841A>T (p.Ile281Phe)
|
|
|
NM_198904.4(GABRG2):c.843C>A (p.Ile281=)
|
rs749127891
|
|
NM_198904.4(GABRG2):c.843C>T (p.Ile281=)
|
|
|
NM_198904.4(GABRG2):c.844C>T (p.Pro282Ser)
|
rs796052508
|
|
NM_198904.4(GABRG2):c.84G>C (p.Leu28=)
|
rs1554096092
|
|
NM_198904.4(GABRG2):c.852_858del (p.Leu285fs)
|
|
|
NM_198904.4(GABRG2):c.859G>A (p.Val287Ile)
|
rs1764624249
|
|
NM_198904.4(GABRG2):c.85C>T (p.Leu29Phe)
|
rs2113081191
|
|
NM_198904.4(GABRG2):c.861C>T (p.Val287=)
|
rs778780107
|
|
NM_198904.4(GABRG2):c.862G>A (p.Val288Ile)
|
|
|
NM_198904.4(GABRG2):c.872G>C (p.Trp291Ser)
|
rs1764625911
|
|
NM_198904.4(GABRG2):c.874G>T (p.Val292Leu)
|
|
|
NM_198904.4(GABRG2):c.877T>A (p.Ser293Thr)
|
rs2113598950
|
|
NM_198904.4(GABRG2):c.888C>A (p.Ile296=)
|
|
|
NM_198904.4(GABRG2):c.888C>G (p.Ile296Met)
|
rs1382620492
|
|
NM_198904.4(GABRG2):c.890A>G (p.Asn297Ser)
|
rs1764626977
|
|
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr)
|
rs1764627724
|
|
NM_198904.4(GABRG2):c.898G>A (p.Ala300Thr)
|
rs2113599106
|
|
NM_198904.4(GABRG2):c.89T>C (p.Leu30Pro)
|
|
|
NM_198904.4(GABRG2):c.907G>A (p.Ala303Thr)
|
rs1581439874
|
|
NM_198904.4(GABRG2):c.90G>C (p.Leu30=)
|
rs115976622
|
|
NM_198904.4(GABRG2):c.915A>G (p.Thr305=)
|
rs1398214382
|
|
NM_198904.4(GABRG2):c.915A>T (p.Thr305=)
|
|
|
NM_198904.4(GABRG2):c.916_922+8del
|
rs2113599162
|
|
NM_198904.4(GABRG2):c.917C>T (p.Ser306Phe)
|
rs2113599212
|
|
NM_198904.4(GABRG2):c.919T>G (p.Leu307Val)
|
rs796052509
|
|
NM_198904.4(GABRG2):c.922+17T>G
|
|
|
NM_198904.4(GABRG2):c.922+18A>C
|
|
|
NM_198904.4(GABRG2):c.923-11C>G
|
|
|
NM_198904.4(GABRG2):c.923-12A>G
|
|
|
NM_198904.4(GABRG2):c.923G>A (p.Gly308Asp)
|
rs1765171348
|
|
NM_198904.4(GABRG2):c.927C>G (p.Ile309Met)
|
rs1554100910
|
|
NM_198904.4(GABRG2):c.929C>T (p.Thr310Ile)
|
rs2113632484
|
|
NM_198904.4(GABRG2):c.931A>G (p.Thr311Ala)
|
rs2113632510
|
|
NM_198904.4(GABRG2):c.935T>A (p.Val312Asp)
|
|
|
NM_198904.4(GABRG2):c.937C>A (p.Leu313Met)
|
rs2113632536
|
|
NM_198904.4(GABRG2):c.93G>A (p.Leu31=)
|
rs2113081300
|
|
NM_198904.4(GABRG2):c.940A>T (p.Thr314Ser)
|
rs2113632555
|
|
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
|
|
|
NM_198904.4(GABRG2):c.948C>A (p.Thr316=)
|
rs1207623268
|
|
NM_198904.4(GABRG2):c.950C>G (p.Thr317Ser)
|
rs1765173859
|
|
NM_198904.4(GABRG2):c.952C>G (p.Leu318Val)
|
rs1561660795
|
|
NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter)
|
rs1758361435
|
|
NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr)
|
rs1765175867
|
|
NM_198904.4(GABRG2):c.965C>A (p.Ala322Asp)
|
rs1765176231
|
|
NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly)
|
rs796052510
|
|
NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)
|
rs796052510
|
|
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)
|
rs397514737
|
|
NM_198904.4(GABRG2):c.974C>T (p.Ser325Leu)
|
rs1581453572
|
|
NM_198904.4(GABRG2):c.988T>A (p.Ser330Thr)
|
|
|
NM_198904.4(GABRG2):c.991T>A (p.Tyr331Asn)
|
|
|
NM_198904.4(GABRG2):c.992A>G (p.Tyr331Cys)
|
rs1390117240
|
|
NM_198904.4(GABRG2):c.996C>T (p.Val332=)
|
rs138964417
|
|
NM_198904.4(GABRG2):c.9G>A (p.Ser3=)
|
rs55716248
|
|