|
NM_001127222.2(CACNA1A):c.632-111=
|
rs1871470
|
0.99999
|
|
NM_001127222.2(CACNA1A):c.1987-98C>T
|
rs4926263
|
0.99259
|
|
NM_001127222.2(CACNA1A):c.6526+137A>G
|
rs10413221
|
0.98446
|
|
NM_001127222.2(CACNA1A):c.4950+96A>C
|
rs16039
|
0.97758
|
|
NM_001127222.2(CACNA1A):c.4590+133A>G
|
rs4926242
|
0.92310
|
|
NM_001127222.2(CACNA1A):c.6339+309T>G
|
rs7253618
|
0.84841
|
|
NM_001127222.2(CACNA1A):c.4388+221C>A
|
rs11085839
|
0.83673
|
|
NM_001127222.2(CACNA1A):c.5940+185G>A
|
rs892017
|
0.83244
|
|
NM_001127222.2(CACNA1A):c.5940+229C>T
|
rs892018
|
0.83236
|
|
NM_001127222.2(CACNA1A):c.5732-311G>A
|
rs4926143
|
0.83041
|
|
NM_001127222.2(CACNA1A):c.1199-31A>G
|
rs16008
|
0.81362
|
|
NM_001127222.2(CACNA1A):c.5941-205T>C
|
rs2419233
|
0.76943
|
|
NM_001127222.2(CACNA1A):c.979-243A>G
|
rs3816720
|
0.69106
|
|
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=)
|
rs16051
|
0.67380
|
|
NM_001127222.2(CACNA1A):c.2173-12C>T
|
rs16018
|
0.66161
|
|
NM_001127222.2(CACNA1A):c.1198+48G>A
|
rs2306348
|
0.64420
|
|
NM_001127222.2(CACNA1A):c.1198+318G>A
|
rs4926149
|
0.64397
|
|
NM_001127222.2(CACNA1A):c.1198+301G>C
|
rs4926150
|
0.64040
|
|
NM_001127222.2(CACNA1A):c.1083-266C>T
|
rs34296137
|
0.64014
|
|
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=)
|
rs2248069
|
0.64010
|
|
NM_001127222.2(CACNA1A):c.4867-71A>C
|
rs16035
|
0.59301
|
|
NM_001127222.2(CACNA1A):c.5731+49C>T
|
rs3816027
|
0.54210
|
|
NM_001127222.2(CACNA1A):c.4089+71T>C
|
rs16031
|
0.53636
|
|
NM_001127222.2(CACNA1A):c.*147C>A
|
rs7254351
|
0.47830
|
|
NM_001127222.2(CACNA1A):c.293+53G>A
|
rs16003
|
0.45781
|
|
NM_001127222.2(CACNA1A):c.2280-68C>A
|
rs12985136
|
0.45430
|
|
NM_001127222.2(CACNA1A):c.5249+209C>T
|
rs11085837
|
0.41044
|
|
NM_001127222.2(CACNA1A):c.1182= (p.Glu394=)
|
rs2248069
|
0.35990
|
|
NM_001127222.2(CACNA1A):c.1556-289A>T
|
rs10414027
|
0.34131
|
|
NM_001127222.2(CACNA1A):c.3692+156G>A
|
rs10422305
|
0.32411
|
|
NM_001127222.2(CACNA1A):c.4867-301A>G
|
rs2302080
|
0.29561
|
|
NM_001127222.2(CACNA1A):c.1555+183A>C
|
rs2292035
|
0.29256
|
|
NM_001127222.2(CACNA1A):c.1555+121C>T
|
rs2292037
|
0.29245
|
|
NM_001127222.2(CACNA1A):c.1555+162G>A
|
rs2292036
|
0.29234
|
|
NM_001127222.2(CACNA1A):c.1556-93T>A
|
rs10407951
|
0.29227
|
|
NM_001127222.2(CACNA1A):c.1555+259G>A
|
rs2292034
|
0.29215
|
|
NM_001127222.2(CACNA1A):c.1083-104C>A
|
rs79798415
|
0.26514
|
|
NM_001127222.2(CACNA1A):c.3090-165A>G
|
rs12975522
|
0.26101
|
|
NM_001127222.2(CACNA1A):c.5529-1078C>A
|
rs73922370
|
0.25181
|
|
NM_001127222.2(CACNA1A):c.4756-97G>A
|
rs8103699
|
0.24285
|
|
NM_001127222.2(CACNA1A):c.1345+72dup
|
rs3834988
|
0.24173
|
|
NM_001127222.2(CACNA1A):c.5249+78G>T
|
rs3765012
|
0.22456
|
|
NM_001127222.2(CACNA1A):c.1345+76G>A
|
rs3764665
|
0.21715
|
|
NM_001127222.2(CACNA1A):c.1256-224C>A
|
rs11085843
|
0.21469
|
|
NM_001127222.2(CACNA1A):c.1256-240T>C
|
rs10425496
|
0.21198
|
|
NM_001127222.2(CACNA1A):c.1083-100A>C
|
rs28425191
|
0.17765
|
|
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
|
rs16030
|
0.17482
|
|
NM_001127222.2(CACNA1A):c.2173-284T>A
|
rs60965377
|
0.16919
|
|
NM_001127222.2(CACNA1A):c.2173-284_2173-283insC
|
rs113638557
|
0.16909
|
|
NM_001127222.2(CACNA1A):c.5401-14C>T
|
rs16042
|
0.16269
|
|
NM_001127222.2(CACNA1A):c.5625+279C>T
|
rs3786935
|
0.14311
|
|
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=)
|
rs16025
|
0.14118
|
|
NM_001127222.2(CACNA1A):c.5941-52C>T
|
rs72995963
|
0.13943
|
|
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val)
|
rs16023
|
0.13336
|
|
NM_001127222.2(CACNA1A):c.1198+328A>T
|
rs10402089
|
0.13062
|
|
NM_001127222.2(CACNA1A):c.1914-39G>A
|
rs16015
|
0.12483
|
|
NM_001127222.2(CACNA1A):c.400-173C>T
|
rs58070391
|
0.12443
|
|
NM_001127222.2(CACNA1A):c.400-123G>T
|
rs3764615
|
0.12411
|
|
NM_001127222.2(CACNA1A):c.1669-346G>A
|
rs72995527
|
0.12213
|
|
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=)
|
rs16016
|
0.11927
|
|
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp)
|
rs16022
|
0.11855
|
|
NM_001127222.2(CACNA1A):c.3554-90G>A
|
rs3764580
|
0.11349
|
|
NM_001127222.2(CACNA1A):c.784+313C>T
|
rs57087220
|
0.11279
|
|
NM_001127222.2(CACNA1A):c.2280-212C>T
|
rs56007854
|
0.10030
|
|
NM_001127222.2(CACNA1A):c.293+277A>G
|
rs112198999
|
0.09611
|
|
NM_001127222.2(CACNA1A):c.4590+184T>C
|
rs17846939
|
0.08394
|
|
NM_001127222.2(CACNA1A):c.3693-127T>C
|
rs72993587
|
0.08375
|
|
NM_001127222.2(CACNA1A):c.876A>G (p.Glu292=)
|
rs16006
|
0.08064
|
|
NM_001127222.2(CACNA1A):c.4389-223C>T
|
rs41276884
|
0.08034
|
|
NM_001127222.2(CACNA1A):c.4756-238G>A
|
rs12610363
|
0.08025
|
|
NM_001127222.2(CACNA1A):c.4388+221_4388+233del
|
rs745747852
|
0.07853
|
|
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser)
|
rs16027
|
0.07737
|
|
NM_001127222.2(CACNA1A):c.1256-213A>G
|
rs8101890
|
0.07456
|
|
NM_001127222.2(CACNA1A):c.6303+69A>C
|
rs60185051
|
0.06829
|
|
NM_001127222.2(CACNA1A):c.3823-295G>T
|
rs16978961
|
0.06530
|
|
NM_001127222.2(CACNA1A):c.5528+1223C>T
|
rs17846918
|
0.06360
|
|
NM_001127222.2(CACNA1A):c.978+104G>A
|
rs16007
|
0.05493
|
|
NM_001127222.2(CACNA1A):c.6340-192G>A
|
rs79459566
|
0.05404
|
|
NM_001127222.2(CACNA1A):c.1556-164G>A
|
rs79071114
|
0.05239
|
|
NM_001127222.2(CACNA1A):c.1199-194A>G
|
rs10421055
|
0.04757
|
|
NM_001127222.2(CACNA1A):c.1255+132T>C
|
rs41276892
|
0.04136
|
|
NM_001127222.2(CACNA1A):c.7365C>A (p.Pro2455=)
|
rs16057
|
0.04042
|
|
NM_001127222.2(CACNA1A):c.1668+339C>T
|
rs9677000
|
0.04022
|
|
NM_001127222.2(CACNA1A):c.1782-20C>T
|
rs73513425
|
0.03727
|
|
NM_001127222.2(CACNA1A):c.1626G>A (p.Thr542=)
|
rs16011
|
0.03687
|
|
NM_001127222.2(CACNA1A):c.1668+160T>C
|
rs10407217
|
0.03687
|
|
NM_001127222.2(CACNA1A):c.1198+326T>A
|
rs75074873
|
0.03533
|
|
NM_001127222.2(CACNA1A):c.1198+168T>C
|
rs79653562
|
0.03515
|
|
NM_001127222.2(CACNA1A):c.6837G>A (p.Pro2279=)
|
rs147221323
|
0.03348
|
|
NM_001127222.2(CACNA1A):c.540-30C>G
|
rs17846942
|
0.03320
|
|
NM_001127222.2(CACNA1A):c.3693-107G>A
|
rs78545770
|
0.03186
|
|
NM_001127222.2(CACNA1A):c.1555+60C>T
|
rs28542738
|
0.02933
|
|
NM_001127222.2(CACNA1A):c.4755+100A>G
|
rs10402924
|
0.02800
|
|
NM_001127222.2(CACNA1A):c.3693-249G>A
|
rs10414337
|
0.02723
|
|
NM_001127222.2(CACNA1A):c.400-28C>T
|
rs55839906
|
0.02487
|
|
NM_001127222.2(CACNA1A):c.1781+18C>A
|
rs16013
|
0.02392
|
|
NM_001127222.2(CACNA1A):c.5401-35C>T
|
rs16041
|
0.02379
|
|
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala)
|
rs28413664
|
0.02366
|
|
NM_001127222.2(CACNA1A):c.3090-324C>T
|
rs139596014
|
0.02170
|
|
NM_001127222.2(CACNA1A):c.4591-152A>G
|
rs74782873
|
0.02167
|
|
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=)
|
rs16050
|
0.02098
|
|
NM_001127222.2(CACNA1A):c.3882+196C>T
|
rs147999365
|
0.02039
|
|
NM_001127222.2(CACNA1A):c.785-120del
|
rs150584850
|
0.02031
|
|
NM_001127222.2(CACNA1A):c.5732-75A>G
|
rs80216489
|
0.01927
|
|
NM_001127222.2(CACNA1A):c.5529-1076C>A
|
rs17846920
|
0.01911
|
|
NM_001127222.2(CACNA1A):c.4388+221_4388+235del
|
rs775769249
|
0.01848
|
|
NM_001127222.2(CACNA1A):c.6339+314T>C
|
rs116457834
|
0.01789
|
|
NM_001127222.2(CACNA1A):c.3546C>T (p.Val1182=)
|
rs16029
|
0.01749
|
|
NM_001127222.2(CACNA1A):c.4950+166C>A
|
rs78265973
|
0.01537
|
|
NM_001127222.2(CACNA1A):c.5739C>T (p.Ala1913=)
|
rs16044
|
0.01420
|
|
NM_001127222.2(CACNA1A):c.539+152C>A
|
rs74382623
|
0.01413
|
|
NM_001127222.2(CACNA1A):c.4089+137T>A
|
rs62108601
|
0.01303
|
|
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=)
|
rs16012
|
0.01217
|
|
NM_001127222.2(CACNA1A):c.5250-101C>T
|
rs118091436
|
0.01216
|
|
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=)
|
rs41276894
|
0.01215
|
|
NM_001127222.2(CACNA1A):c.5625+65T>C
|
rs372041159
|
0.01203
|
|
NM_001127222.2(CACNA1A):c.5529-885A>G
|
rs117340172
|
0.01166
|
|
NM_001127222.2(CACNA1A):c.1198+228C>T
|
rs115114908
|
0.01109
|
|
NM_001127222.2(CACNA1A):c.5250-55G>A
|
rs144170644
|
0.01096
|
|
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala)
|
rs16019
|
0.01053
|
|
NM_001127222.2(CACNA1A):c.1913+112G>A
|
rs149233161
|
0.00909
|
|
NM_001127222.2(CACNA1A):c.6189+41G>A
|
rs7246682
|
0.00901
|
|
NM_001127222.2(CACNA1A):c.5626-180C>T
|
rs115954706
|
0.00891
|
|
NM_001127222.2(CACNA1A):c.5626-56G>A
|
rs149917710
|
0.00843
|
|
NM_001127222.2(CACNA1A):c.4388+221_4388+232del
|
rs1277915263
|
0.00836
|
|
NM_001127222.2(CACNA1A):c.4866+310G>A
|
rs143600357
|
0.00834
|
|
NM_001127222.2(CACNA1A):c.4866+273C>T
|
rs138067584
|
0.00832
|
|
NM_001127222.2(CACNA1A):c.6527-134C>T
|
rs181255369
|
0.00826
|
|
NM_001127222.2(CACNA1A):c.6126G>A (p.Thr2042=)
|
rs7249722
|
0.00766
|
|
NM_001127222.2(CACNA1A):c.*302A>G
|
rs111240372
|
0.00757
|
|
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=)
|
rs16059
|
0.00712
|
|
NM_001127222.2(CACNA1A):c.293+253C>T
|
rs114897897
|
0.00672
|
|
NM_001127222.2(CACNA1A):c.293+182T>C
|
rs144454175
|
0.00671
|
|
NM_001127222.2(CACNA1A):c.3822+253T>A
|
rs73511449
|
0.00661
|
|
NM_001127222.2(CACNA1A):c.1987-72T>A
|
rs73511489
|
0.00656
|
|
NM_001127222.2(CACNA1A):c.2826C>T (p.Ser942=)
|
rs181024112
|
0.00646
|
|
NM_001127222.2(CACNA1A):c.6303+289G>A
|
rs145366844
|
0.00624
|
|
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser)
|
rs16020
|
0.00616
|
|
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=)
|
rs16026
|
0.00616
|
|
NM_001127222.2(CACNA1A):c.5732-143G>C
|
rs111900823
|
0.00609
|
|
NM_001127222.2(CACNA1A):c.2173-271A>G
|
rs77219463
|
0.00605
|
|
NM_001127222.2(CACNA1A):c.5732-197G>A
|
rs138057423
|
0.00579
|
|
NM_001127222.2(CACNA1A):c.1555+24C>T
|
rs10422728
|
0.00534
|
|
NM_001127222.2(CACNA1A):c.2173-62C>G
|
rs116732979
|
0.00520
|
|
NM_001127222.2(CACNA1A):c.785-93G>A
|
rs114966988
|
0.00499
|
|
NM_001127222.2(CACNA1A):c.5731+159G>T
|
rs377481166
|
0.00490
|
|
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=)
|
rs16049
|
0.00467
|
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
|
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)
|
rs16024
|
0.00390
|
|
NM_001127222.2(CACNA1A):c.5067+20G>A
|
rs184517632
|
0.00390
|
|
NM_001127222.2(CACNA1A):c.631+45C>T
|
rs191787416
|
0.00362
|
|
NM_001127222.2(CACNA1A):c.4755+181T>G
|
rs116513466
|
0.00330
|
|
NM_001127222.2(CACNA1A):c.2130C>G (p.Ala710=)
|
rs16017
|
0.00329
|
|
NM_001127222.2(CACNA1A):c.1698C>T (p.Ile566=)
|
rs190603219
|
0.00314
|
|
NM_001127222.2(CACNA1A):c.1199-298A>G
|
rs141686642
|
0.00300
|
|
NM_001127222.2(CACNA1A):c.4089+22G>A
|
rs147533160
|
0.00277
|
|
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln)
|
rs374664760
|
0.00262
|
|
NM_001127222.2(CACNA1A):c.1345+7C>T
|
rs192536793
|
0.00213
|
|
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=)
|
rs150378053
|
0.00188
|
|
NM_001127222.2(CACNA1A):c.399+189G>A
|
rs141059769
|
0.00156
|
|
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=)
|
rs182505786
|
0.00153
|
|
NM_001127222.2(CACNA1A):c.4590+33A>G
|
rs368199574
|
0.00148
|
|
NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)
|
rs201612257
|
0.00145
|
|
NM_001127222.2(CACNA1A):c.2104+27G>A
|
rs183378048
|
0.00143
|
|
NM_001127222.2(CACNA1A):c.2280-124T>C
|
rs185054005
|
0.00141
|
|
NM_001127222.2(CACNA1A):c.4950+3704C>T
|
rs370406227
|
0.00135
|
|
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=)
|
rs375628894
|
0.00131
|
|
NM_001127222.2(CACNA1A):c.7261C>G (p.Pro2421Ala)
|
rs544924244
|
0.00130
|
|
NM_001127222.2(CACNA1A):c.7262C>T (p.Pro2421Leu)
|
rs573961089
|
0.00130
|
|
NM_001127222.2(CACNA1A):c.5400+36C>G
|
rs368172384
|
0.00127
|
|
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=)
|
rs16009
|
0.00114
|
|
NM_001127222.2(CACNA1A):c.4950+3703A>C
|
rs190268214
|
0.00114
|
|
NM_001127222.2(CACNA1A):c.631+37del
|
rs202061083
|
0.00111
|
|
NM_001127222.2(CACNA1A):c.1914-4G>A
|
rs191026552
|
0.00108
|
|
NM_001127222.2(CACNA1A):c.1255+38G>A
|
rs374298155
|
0.00095
|
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
|
NM_001127222.2(CACNA1A):c.6303+38C>T
|
rs369748104
|
0.00083
|
|
NM_001127222.2(CACNA1A):c.5400+15A>C
|
rs373246283
|
0.00078
|
|
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr)
|
rs199745070
|
0.00074
|
|
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile)
|
rs201836062
|
0.00070
|
|
NM_001127222.2(CACNA1A):c.1083-4C>G
|
rs201056216
|
0.00069
|
|
NM_001127222.2(CACNA1A):c.6561C>T (p.Ser2187=)
|
rs371116746
|
0.00064
|
|
NM_001127222.2(CACNA1A):c.5941-38A>C
|
rs374288486
|
0.00062
|
|
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=)
|
rs199854716
|
0.00060
|
|
NM_001127222.2(CACNA1A):c.4950+3617G>A
|
rs370749141
|
0.00060
|
|
NM_001127222.2(CACNA1A):c.6974_6976dup (p.Gln2325_Ala2326insGlu)
|
rs772835259
|
0.00060
|
|
NM_001127222.2(CACNA1A):c.6527-19T>C
|
rs375949210
|
0.00058
|
|
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=)
|
rs374749004
|
0.00057
|
|
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
|
rs199793367
|
0.00057
|
|
NM_001127222.2(CACNA1A):c.6656A>C (p.His2219Pro)
|
rs772789381
|
0.00055
|
|
NM_001127222.2(CACNA1A):c.3693-20C>T
|
rs200082880
|
0.00048
|
|
NM_001127222.2(CACNA1A):c.2823G>A (p.Glu941=)
|
rs374511141
|
0.00045
|
|
NM_001127222.2(CACNA1A):c.5649C>G (p.Pro1883=)
|
rs61741139
|
0.00042
|
|
NM_001127222.2(CACNA1A):c.978+9T>C
|
rs111366222
|
0.00041
|
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
|
NM_001127222.2(CACNA1A):c.2844C>G (p.Arg948=)
|
rs559862641
|
0.00036
|
|
NM_001127222.2(CACNA1A):c.5757C>T (p.Asp1919=)
|
rs368042511
|
0.00036
|
|
NM_001127222.2(CACNA1A):c.5249+29T>C
|
rs17846914
|
0.00033
|
|
NM_001127222.2(CACNA1A):c.1572T>A (p.Ile524=)
|
rs16010
|
0.00030
|
|
NM_001127222.2(CACNA1A):c.3990-36C>G
|
rs371395911
|
0.00030
|
|
NM_001127222.2(CACNA1A):c.3117G>T (p.Val1039=)
|
rs745981005
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.4806C>T (p.Ile1602=)
|
rs372240227
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.5133+10G>A
|
rs369033909
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.7274G>A (p.Gly2425Asp)
|
rs555362569
|
0.00029
|
|
NM_001127222.2(CACNA1A):c.1905C>T (p.Phe635=)
|
rs115452236
|
0.00026
|
|
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=)
|
rs372812865
|
0.00026
|
|
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val)
|
rs199512932
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.6050+23A>C
|
rs575642712
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr)
|
rs1052515747
|
0.00024
|
|
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=)
|
rs572036869
|
0.00023
|
|
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
|
rs374307014
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys)
|
rs375354077
|
0.00022
|
|
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=)
|
rs201230929
|
0.00021
|
|
NM_001127222.2(CACNA1A):c.3089+34C>T
|
rs185690935
|
0.00020
|
|
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met)
|
rs768129470
|
0.00020
|
|
NM_001127222.2(CACNA1A):c.1781+7C>A
|
rs202005119
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)
|
rs376641545
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
|
rs749357610
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=)
|
rs17846921
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.6339+10G>C
|
rs376238265
|
0.00019
|
|
NM_001127222.2(CACNA1A):c.1545C>T (p.Ser515=)
|
rs372275167
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.6474C>T (p.Arg2158=)
|
rs368016666
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His)
|
rs727503832
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.7050C>T (p.Ala2350=)
|
rs932173199
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)
|
rs533884784
|
0.00017
|
|
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=)
|
rs368033271
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.2907G>A (p.Pro969=)
|
rs772557121
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp)
|
rs757026025
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=)
|
rs370541345
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.4410C>T (p.Asp1470=)
|
rs374555263
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn)
|
rs371595464
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.5250-27G>A
|
rs200200460
|
0.00016
|
|
NM_001127222.2(CACNA1A):c.4950+3624C>T
|
rs376074211
|
0.00015
|
|
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met)
|
rs778274864
|
0.00015
|
|
NM_001127222.2(CACNA1A):c.1500G>A (p.Thr500=)
|
rs373192672
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.5259C>T (p.Thr1753=)
|
rs376684786
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.5840-7C>T
|
rs372261381
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6084G>A (p.Pro2028=)
|
rs374954726
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)
|
rs745609731
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.796G>A (p.Gly266Ser)
|
rs17846908
|
0.00014
|
|
NM_001127222.2(CACNA1A):c.3043G>A (p.Gly1015Arg)
|
rs190551509
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
|
NM_001127222.2(CACNA1A):c.1256-47C>G
|
rs779502995
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=)
|
rs201236364
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.6526+11C>G
|
rs767916527
|
0.00012
|
|
NM_001127222.2(CACNA1A):c.6584G>A (p.Arg2195Gln)
|
rs373192655
|
0.00012
|
|
NC_000019.10:g.13599806G>A
|
rs970127068
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.1782-6C>T
|
rs201350764
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.5400+18G>A
|
rs16040
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.5859G>A (p.Gly1953=)
|
rs200625174
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.5C>T (p.Ala2Val)
|
rs927310190
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=)
|
rs745336852
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.6573G>A (p.Pro2191=)
|
rs554430594
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.924G>A (p.Val308=)
|
rs754935637
|
0.00011
|
|
NM_001127222.2(CACNA1A):c.1212C>G (p.Leu404=)
|
rs540579196
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.5134-4A>G
|
rs200165596
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.5155G>A (p.Asp1719Asn)
|
rs368257155
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.6061G>A (p.Glu2021Lys)
|
rs202002033
|
0.00010
|
|
NM_001127222.2(CACNA1A):c.1225A>C (p.Thr409Pro)
|
rs187259531
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2046C>T (p.Gly682=)
|
rs535077726
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2104+6C>T
|
rs372970603
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2105-15C>T
|
rs190471428
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)
|
rs551380805
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3544G>A (p.Val1182Ile)
|
rs369742607
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3564C>T (p.Asn1188=)
|
rs200209920
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3701G>A (p.Arg1234His)
|
rs373183625
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.3774C>T (p.Ile1258=)
|
rs759641758
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)
|
rs772988279
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val)
|
rs765051582
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6694C>T (p.Arg2232Trp)
|
rs751926317
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.6782G>A (p.Gly2261Asp)
|
rs751364653
|
0.00009
|
|
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=)
|
rs377458008
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.1555+46C>T
|
rs765977644
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)
|
rs769497214
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.3634G>T (p.Asp1212Tyr)
|
rs201269793
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.4591-5C>T
|
rs199631921
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.5401-10G>A
|
rs370129945
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.6527G>T (p.Gly2176Val)
|
rs763045560
|
0.00008
|
|
NM_001127222.2(CACNA1A):c.2172+9G>A
|
rs368353124
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2257G>A (p.Ala753Thr)
|
rs17846944
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2783C>T (p.Pro928Leu)
|
rs754998423
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.2788C>T (p.Arg930Trp)
|
rs367882437
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.3063C>A (p.Asp1021Glu)
|
rs1038705410
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.4338G>A (p.Leu1446=)
|
rs371952826
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.5394G>A (p.Ser1798=)
|
rs201681631
|
0.00007
|
|
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=)
|
rs371972266
|
0.00007
|
|
NM_001127221.2(CACNA1A):c.5555T>C (p.Met1852Thr)
|
rs368791169
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.1593C>T (p.Ser531=)
|
rs372090886
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2501A>C (p.Asn834Thr)
|
rs201666606
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=)
|
rs780515850
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2749G>A (p.Glu917Lys)
|
rs368081042
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2812G>C (p.Gly938Arg)
|
rs771423362
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.2853G>A (p.Ala951=)
|
rs761522418
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.294-6C>T
|
rs764502828
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.297C>T (p.Pro99=)
|
rs370211834
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3053G>C (p.Arg1018Pro)
|
rs762288499
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3489C>T (p.Pro1163=)
|
rs771567638
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.3649A>G (p.Met1217Val)
|
rs372017604
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=)
|
rs557205300
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.546G>A (p.Leu182=)
|
rs368347143
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.549G>T (p.Ala183=)
|
rs16004
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)
|
rs371957992
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.5994A>G (p.Glu1998=)
|
rs16045
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser)
|
rs751947412
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser)
|
rs574805525
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6077A>G (p.Glu2026Gly)
|
rs771768635
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6190-3C>A
|
rs368480650
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6203G>A (p.Arg2068Gln)
|
rs769040794
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6266G>A (p.Arg2089Gln)
|
rs1033214914
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser)
|
rs758924907
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.7233G>C (p.Arg2411=)
|
rs1015330748
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.903C>T (p.Phe301=)
|
rs17846910
|
0.00006
|
|
NM_001127222.2(CACNA1A):c.105C>T (p.Gly35=)
|
rs745876675
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1199-9C>T
|
rs529977616
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.1305C>T (p.Pro435=)
|
rs376451601
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.2626G>A (p.Gly876Ser)
|
rs763054302
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.3123C>A (p.Gly1041=)
|
rs377466062
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.4591-9C>G
|
rs16032
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.4896C>T (p.Phe1632=)
|
rs374613316
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=)
|
rs373678557
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.561G>A (p.Thr187=)
|
rs777316026
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6473G>A (p.Arg2158His)
|
rs375859889
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6663G>A (p.Pro2221=)
|
rs1447103387
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.6978G>A (p.Ala2326=)
|
rs772427988
|
0.00005
|
|
NM_001127222.2(CACNA1A):c.807G>A (p.Pro269=)
|
rs772730357
|
0.00005
|
|
NM_001127221.2(CACNA1A):c.5578T>C (p.Ser1860Pro)
|
rs374688464
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=)
|
rs764453012
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1262G>A (p.Arg421Gln)
|
rs752902118
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1306G>A (p.Glu436Lys)
|
rs759782636
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln)
|
rs561858384
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2105-8A>G
|
rs763822129
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)
|
rs751726770
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2718G>A (p.Arg906=)
|
rs909344317
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.27G>T (p.Pro9=)
|
rs547576283
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.2982_2987dup (p.Gly995_Pro996dup)
|
rs995883431
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3106G>A (p.Gly1036Arg)
|
rs762343454
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3122G>T (p.Gly1041Val)
|
rs370396470
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3175C>T (p.Pro1059Ser)
|
rs775079932
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3226G>A (p.Ala1076Thr)
|
rs554091859
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3547G>A (p.Val1183Ile)
|
rs373224251
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3621C>T (p.Asp1207=)
|
rs368211900
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3622G>A (p.Asp1208Asn)
|
rs750231498
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3684G>A (p.Thr1228=)
|
rs368048030
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.3843C>T (p.Tyr1281=)
|
rs774224202
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4089+29G>T
|
rs574706114
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4292G>A (p.Arg1431Gln)
|
rs369440853
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4371G>A (p.Thr1457=)
|
rs368100270
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4755+46G>A
|
rs190809550
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn)
|
rs573209959
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)
|
rs371273055
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5401-3C>T
|
rs375947967
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=)
|
rs188863534
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6160G>A (p.Asp2054Asn)
|
rs761560224
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)
|
rs752513542
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.631+14C>T
|
rs1377159542
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.687C>T (p.Ile229=)
|
rs544057763
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.7144G>T (p.Ala2382Ser)
|
rs763992341
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.7306G>A (p.Ala2436Thr)
|
rs754573556
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.7441G>A (p.Gly2481Arg)
|
rs765523382
|
0.00004
|
|
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=)
|
rs781149861
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)
|
rs774203605
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.1534G>A (p.Glu512Lys)
|
rs375210532
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.159G>T (p.Ala53=)
|
rs767892925
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=)
|
rs369129616
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2765G>T (p.Arg922Leu)
|
rs752824390
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2804G>A (p.Arg935Gln)
|
rs768048563
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2879C>T (p.Ala960Val)
|
rs762396014
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.2895G>C (p.Gly965=)
|
rs1057522107
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3017G>C (p.Arg1006Pro)
|
rs1268938831
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3119C>T (p.Ser1040Leu)
|
rs776628272
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3210C>T (p.Asn1070=)
|
rs369927027
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3365G>A (p.Arg1122His)
|
rs201647627
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3372G>A (p.Thr1124=)
|
rs770311284
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3483G>A (p.Arg1161=)
|
rs772768681
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3533T>A (p.Leu1178His)
|
rs761259850
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys)
|
rs994265107
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.3784G>A (p.Ala1262Thr)
|
rs776503550
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4362C>T (p.Thr1454=)
|
rs190264873
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)
|
rs773209223
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=)
|
rs372359926
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5493C>T (p.Tyr1831=)
|
rs777510892
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.549G>A (p.Ala183=)
|
rs16004
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5580G>A (p.Pro1860=)
|
rs144137960
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5810C>T (p.Thr1937Met)
|
rs771104002
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5853C>T (p.Thr1951=)
|
rs534218994
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5940+4C>T
|
rs749339070
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.5940+5G>A
|
rs780060495
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6083C>G (p.Pro2028Arg)
|
rs370345937
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6125C>T (p.Thr2042Met)
|
rs563345694
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met)
|
rs776203885
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6317G>A (p.Arg2106Gln)
|
rs373229577
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6398G>A (p.Arg2133Gln)
|
rs779044548
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.642C>T (p.Val214=)
|
rs1336839525
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6448C>T (p.Arg2150Trp)
|
rs756780624
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln)
|
rs756685971
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)
|
rs1233829101
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=)
|
rs749587119
|
0.00003
|
|
NM_001127222.2(CACNA1A):c.7160G>A (p.Gly2387Glu)
|
rs1175823781
|
0.00003
|
|
NM_001127221.2(CACNA1A):c.5533G>A (p.Gly1845Ser)
|
rs141565870
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1083-11T>C
|
rs777235021
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1142G>A (p.Arg381Gln)
|
rs772354342
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1256-9T>C
|
rs758786727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1356C>T (p.Phe452=)
|
rs41276888
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
|
rs1189054127
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)
|
rs369084322
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2729T>G (p.Leu910Arg)
|
rs953766694
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2754C>T (p.Gly918=)
|
rs371757002
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.2963G>A (p.Gly988Asp)
|
rs1271411894
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val)
|
rs952757731
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3000G>A (p.Glu1000=)
|
rs965510264
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)
|
rs1202322408
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp)
|
rs753402026
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3228G>A (p.Ala1076=)
|
rs373678395
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3264C>T (p.Ala1088=)
|
rs916089734
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3420C>T (p.Pro1140=)
|
rs542849275
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys)
|
rs780535727
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)
|
rs376365775
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4089+3G>A
|
rs781595676
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4251-4G>A
|
rs201785699
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4440C>T (p.Pro1480=)
|
rs756711282
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4591-4G>A
|
rs370348070
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4608C>T (p.Phe1536=)
|
rs760679421
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)
|
rs182161386
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5157C>T (p.Asp1719=)
|
rs758409135
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5158G>A (p.Val1720Met)
|
rs537982877
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5166C>T (p.Asp1722=)
|
rs200501726
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=)
|
rs750338421
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5521G>A (p.Ala1841Thr)
|
rs753229469
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.5986A>G (p.Thr1996Ala)
|
rs141963371
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr)
|
rs374063403
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6101G>A (p.Arg2034His)
|
rs369555957
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6140C>T (p.Pro2047Leu)
|
rs539347883
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6220G>A (p.Gly2074Ser)
|
rs376910068
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.632G>A (p.Ser211Asn)
|
rs1085307866
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6331A>G (p.Asn2111Asp)
|
rs1162464868
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6340-7C>A
|
rs765609971
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6346T>G (p.Ser2116Ala)
|
rs576057388
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro)
|
rs1220294928
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6408C>T (p.Asp2136=)
|
rs779701046
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6417G>A (p.Ser2139=)
|
rs1174598861
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6460C>T (p.Arg2154Trp)
|
rs1374160355
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu)
|
rs572722130
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6467G>A (p.Arg2156His)
|
rs755749925
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His)
|
rs1417890059
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6550A>G (p.Thr2184Ala)
|
rs1028538547
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6610G>A (p.Asp2204Asn)
|
rs747673128
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6646C>T (p.His2216Tyr)
|
rs760470308
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6647A>C (p.His2216Pro)
|
rs2054687187
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6653A>C (p.His2218Pro)
|
rs1353109044
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6662C>T (p.Pro2221Leu)
|
rs778551911
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6781-6G>A
|
rs757167417
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.6995G>A (p.Arg2332Gln)
|
rs748579395
|
0.00002
|
|
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu)
|
rs1442777428
|
0.00002
|
|
NM_001127221.2(CACNA1A):c.5587C>G (p.Leu1863Val)
|
rs1186831509
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)
|
rs773593740
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1169A>G (p.Asn390Ser)
|
rs1064795477
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1171G>A (p.Gly391Arg)
|
rs749309558
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp)
|
rs1208991974
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1327G>A (p.Ala443Thr)
|
rs866479368
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1329T>C (p.Ala443=)
|
rs2058444317
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1389G>A (p.Glu463=)
|
rs886043657
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala)
|
rs1195950626
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1427G>A (p.Arg476His)
|
rs755107633
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1439G>A (p.Arg480His)
|
rs761827501
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met)
|
rs121908240
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1546G>A (p.Asp516Asn)
|
rs185034915
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1551C>G (p.Phe517Leu)
|
rs2058143598
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1559A>G (p.Tyr520Cys)
|
rs886039322
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1594G>A (p.Glu532Lys)
|
rs1064794263
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.162G>A (p.Gln54=)
|
rs762262807
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1643C>G (p.Ser548Cys)
|
rs2058057381
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1669-17C>T
|
rs755846938
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1782-5G>A
|
rs1085307739
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=)
|
rs756972061
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1809C>T (p.Val603=)
|
rs560241650
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile)
|
rs756562814
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=)
|
rs774629539
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=)
|
rs769887736
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu)
|
rs762530372
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2105-2A>G
|
rs906086634
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr)
|
rs1201483107
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2173-11G>A
|
rs367573994
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2198C>T (p.Ala733Val)
|
rs1335209785
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val)
|
rs200355966
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu)
|
rs1196111017
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)
|
rs370746809
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2404C>A (p.Arg802Ser)
|
rs760816963
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2435G>A (p.Arg812Gln)
|
rs953797733
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2490C>G (p.Asn830Lys)
|
rs1248783281
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2520G>A (p.Ala840=)
|
rs1367532933
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2521G>T (p.Ala841Ser)
|
rs1057522204
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln)
|
rs1057518589
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala)
|
rs751675055
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2672T>G (p.Leu891Arg)
|
rs1171365113
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.26C>T (p.Pro9Leu)
|
rs1487101039
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2707C>T (p.His903Tyr)
|
rs765300713
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.270C>T (p.Tyr90=)
|
rs371957971
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2759C>G (p.Ala920Gly)
|
rs538079885
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2774C>T (p.Ala925Val)
|
rs765345767
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2809G>C (p.Gly937Arg)
|
rs746428515
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2811G>T (p.Gly937=)
|
rs1322679497
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2827C>T (p.Arg943Cys)
|
rs754979047
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2833G>A (p.Gly945Arg)
|
rs527593196
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2852C>T (p.Ala951Val)
|
rs1442995931
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2872C>A (p.His958Asn)
|
rs923472334
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2882A>C (p.His961Pro)
|
rs1316264115
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2884C>T (p.Arg962Cys)
|
rs532842904
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2905C>G (p.Pro969Ala)
|
rs773766180
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2919G>A (p.Ala973=)
|
rs1229290225
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2932C>T (p.Arg978Trp)
|
rs1361244265
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2938C>T (p.Arg980Cys)
|
rs778978325
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.294-4A>G
|
rs1400044284
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=)
|
rs1347561457
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3052C>T (p.Arg1018Trp)
|
rs772611976
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3071G>A (p.Arg1024Gln)
|
rs1458500776
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3167G>A (p.Arg1056His)
|
rs200850308
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3170A>C (p.Gln1057Pro)
|
rs1273138619
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.318C>T (p.Ala106=)
|
rs554701306
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3233C>T (p.Ser1078Leu)
|
rs748935741
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3236C>A (p.Ala1079Asp)
|
rs1064797232
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3238G>A (p.Ala1080Thr)
|
rs577581172
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3282A>G (p.Pro1094=)
|
rs2057410670
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3304G>A (p.Asp1102Asn)
|
rs372823282
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3308C>T (p.Pro1103Leu)
|
rs554455455
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.330G>A (p.Ala110=)
|
rs375486960
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3331G>T (p.Ala1111Ser)
|
rs1215692574
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3364C>T (p.Arg1122Cys)
|
rs774407963
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3371C>T (p.Thr1124Met)
|
rs374720207
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3377A>G (p.Asn1126Ser)
|
rs755440575
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.337A>G (p.Ile113Val)
|
rs746955115
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg)
|
rs746195332
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=)
|
rs751700486
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.345C>G (p.Leu115=)
|
rs747917423
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3479C>T (p.Ala1160Val)
|
rs766027931
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)
|
rs746222908
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)
|
rs996509493
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=)
|
rs976780203
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3656C>T (p.Pro1219Leu)
|
rs573365997
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.367G>A (p.Asp123Asn)
|
rs753467037
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3683C>T (p.Thr1228Met)
|
rs1057518532
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3700C>T (p.Arg1234Cys)
|
rs781738239
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3715A>G (p.Ile1239Val)
|
rs375903481
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=)
|
rs1057523661
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3803C>T (p.Pro1268Leu)
|
rs1057522815
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.3806A>G (p.Asn1269Ser)
|
rs997272721
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)
|
rs1265632174
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=)
|
rs913405402
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4403C>T (p.Ser1468Leu)
|
rs1211492911
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4474G>A (p.Val1492Ile)
|
rs121908234
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4516G>T (p.Val1506Leu)
|
rs1322080885
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.458T>C (p.Ile153Thr)
|
rs369134549
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4646A>G (p.Gln1549Arg)
|
rs759263620
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser)
|
rs1353824164
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4786G>A (p.Ala1596Thr)
|
rs769043258
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4807G>A (p.Val1603Ile)
|
rs943715197
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His)
|
rs777769751
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)
|
rs779576853
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5015G>A (p.Arg1672His)
|
rs1057519429
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys)
|
rs121908243
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=)
|
rs201844207
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5134-3C>T
|
rs576141199
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5154C>T (p.Ile1718=)
|
rs751799133
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys)
|
rs1064795744
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5256C>T (p.Ala1752=)
|
rs753902560
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5298C>T (p.Ser1766=)
|
rs767315464
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5336G>A (p.Arg1779Gln)
|
rs267605294
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.536C>T (p.Thr179Met)
|
rs773461333
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5400+8T>C
|
rs772508313
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5528+6A>G
|
rs762224302
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp)
|
rs746460335
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5732-8C>T
|
rs1057521521
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)
|
rs1057518779
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)
|
rs771636070
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met)
|
rs1365721398
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5811G>A (p.Thr1937=)
|
rs747273411
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5839+10G>A
|
rs371733571
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met)
|
rs749251058
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6005G>C (p.Gly2002Ala)
|
rs1402384624
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6015C>T (p.Ala2005=)
|
rs369675855
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6017T>G (p.Leu2006Arg)
|
rs759624463
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6051-9C>G
|
rs1268738297
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6055G>T (p.Ala2019Ser)
|
rs1393616835
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6060C>T (p.His2020=)
|
rs1282402038
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6066C>T (p.Ser2022=)
|
rs886043571
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6190-4G>A
|
rs769551839
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6211G>A (p.Gly2071Ser)
|
rs370514102
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6217G>A (p.Asp2073Asn)
|
rs1057524336
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6228C>T (p.Ser2076=)
|
rs781315895
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6231C>A (p.Asp2077Glu)
|
rs751515136
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)
|
rs769128653
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6316C>T (p.Arg2106Trp)
|
rs771030765
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.632-8C>T
|
rs762951690
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6326G>A (p.Gly2109Glu)
|
rs868808043
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6444C>A (p.Asn2148Lys)
|
rs780779363
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6449G>A (p.Arg2150Gln)
|
rs751044309
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)
|
rs1242460645
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)
|
rs1042634748
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6532G>A (p.Gly2178Arg)
|
rs953871050
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6549G>A (p.Met2183Ile)
|
rs1335828021
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6562G>A (p.Gly2188Arg)
|
rs965819293
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6575C>T (p.Ser2192Leu)
|
rs1325697290
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp)
|
rs1477386827
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6599G>A (p.Gly2200Asp)
|
rs1163864338
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg)
|
rs1002423867
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)
|
rs757715357
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6701del (p.Asp2234fs)
|
rs1204175797
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=)
|
rs1376732755
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.6791C>T (p.Ser2264Phe)
|
rs1267795318
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.684G>A (p.Gln228=)
|
rs1356192843
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp)
|
rs973900517
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.7368G>A (p.Arg2456=)
|
rs987406696
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.7409G>A (p.Arg2470Gln)
|
rs754738036
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.7488A>G (p.Glu2496=)
|
rs745440661
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.7512T>C (p.Asp2504=)
|
rs1296592145
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.761C>A (p.Thr254Asn)
|
rs1599292361
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.832G>T (p.Ala278Ser)
|
rs1013100046
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.839C>T (p.Thr280Ile)
|
rs1195270312
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.848A>G (p.Asn283Ser)
|
rs1212952550
|
0.00001
|
|
NM_001127222.2(CACNA1A):c.864G>A (p.Gln288=)
|
rs770448965
|
0.00001
|
|
GRCh37/hg19 19p13.2(chr19:13363805-13363915)x1
|
|
|
|
GRCh37/hg19 19p13.2(chr19:13374979-13388396)x1
|
|
|
|
GRCh37/hg19 19p13.2(chr19:13427805-13682946)x1
|
|
|
|
GRCh37/hg19 19p13.2(chr19:13512340-13548135)x1
|
|
|
|
GRCh37/hg19 19p13.2(chr19:13563690-13566026)x1
|
|
|
|
GRCh37/hg19 19p13.2(chr19:13563690-13617038)x1
|
|
|
|
NC_000019.10:g.13198071A>T
|
|
|
|
NC_000019.10:g.13506621del
|
rs569789898
|
|
|
NC_000019.10:g.13506697C>A
|
rs572550834
|
|
|
NC_000019.10:g.13599842C>A
|
|
|
|
NC_000019.10:g.13599844G>A
|
|
|
|
NC_000019.10:g.13599907C>T
|
|
|
|
NM_000068.4(CACNA1A):c.4970_4987del
|
|
|
|
NM_001127221.1(CACNA1A):c.6309_6311delGAG
|
rs750511224
|
|
|
NM_001127221.2(CACNA1A):c.2900_2925dup (p.Ala978fs)
|
rs2144953455
|
|
|
NM_001127221.2(CACNA1A):c.5532C>A (p.Cys1844Ter)
|
rs765557914
|
|
|
NM_001127221.2(CACNA1A):c.5537G>A (p.Arg1846Gln)
|
rs770936656
|
|
|
NM_001127221.2(CACNA1A):c.5537G>T (p.Arg1846Leu)
|
rs770936656
|
|
|
NM_001127221.2(CACNA1A):c.5543A>G (p.His1848Arg)
|
rs2144616863
|
|
|
NM_001127221.2(CACNA1A):c.5559_5560del (p.Tyr1853_Ser1854delinsTer)
|
rs1568440440
|
|
|
NM_001127221.2(CACNA1A):c.5567T>C (p.Leu1856Ser)
|
rs2055562308
|
|
|
NM_001127221.2(CACNA1A):c.5569C>T (p.Arg1857Ter)
|
rs1296262946
|
|
|
NM_001127221.2(CACNA1A):c.5575A>G (p.Ile1859Val)
|
rs1432354078
|
|
|
NM_001127221.2(CACNA1A):c.5585C>G (p.Pro1862Arg)
|
|
|
|
NM_001127221.2(CACNA1A):c.5590G>A (p.Gly1864Ser)
|
rs1001063428
|
|
|
NM_001127221.2(CACNA1A):c.5615G>C (p.Arg1872Thr)
|
|
|
|
NM_001127221.2(CACNA1A):c.5628+1G>A
|
rs1555736262
|
|
|
NM_001127221.2(CACNA1A):c.6659_6660delinsGC (p.His2220Arg)
|
rs1085307607
|
|
|
NM_001127222.2(CACNA1A):c.*219A>C
|
rs116023034
|
|
|
NM_001127222.2(CACNA1A):c.-76GCG[9]
|
rs16000
|
|
|
NM_001127222.2(CACNA1A):c.104del (p.Gly35fs)
|
rs1568720031
|
|
|
NM_001127222.2(CACNA1A):c.106A>G (p.Ser36Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.1083-105_1083-104insAA
|
rs1293242951
|
|
|
NM_001127222.2(CACNA1A):c.1083-2A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1083-68_1083-63del
|
rs201437979
|
|
|
NM_001127222.2(CACNA1A):c.1083-68_1083-65del
|
rs199586393
|
|
|
NM_001127222.2(CACNA1A):c.1083-68_1083-67del
|
rs146977188
|
|
|
NM_001127222.2(CACNA1A):c.1084G>T (p.Glu362Ter)
|
rs1064796640
|
|
|
NM_001127222.2(CACNA1A):c.1096G>A (p.Glu366Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.109C>G (p.Arg37Gly)
|
rs780987148
|
|
|
NM_001127222.2(CACNA1A):c.1105C>T (p.Arg369Trp)
|
rs1057524457
|
|
|
NM_001127222.2(CACNA1A):c.1106G>A (p.Arg369Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.1108G>T (p.Val370Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1136T>G (p.Leu379Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1144C>T (p.Gln382Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.1168A>G (p.Asn390Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.116G>A (p.Gly39Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.1170T>A (p.Asn390Lys)
|
rs768768744
|
|
|
NM_001127222.2(CACNA1A):c.1187T>A (p.Ile396Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.1191A>C (p.Ser397=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
|
NM_001127222.2(CACNA1A):c.1198+8C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.11_34del (p.Phe4_Arg11del)
|
|
|
|
NM_001127222.2(CACNA1A):c.1205T>C (p.Val402Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=)
|
rs1346992540
|
|
|
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.122A>T (p.Gln41Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1231G>C (p.Gly411Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1231G>T (p.Gly411Trp)
|
rs1448345243
|
|
|
NM_001127222.2(CACNA1A):c.1234G>C (p.Glu412Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser)
|
rs2145192584
|
|
|
NM_001127222.2(CACNA1A):c.1255+2dup
|
rs1555767190
|
|
|
NM_001127222.2(CACNA1A):c.1255+3A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1255+5C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.1256-194T>A
|
rs10425460
|
|
|
NM_001127222.2(CACNA1A):c.1256-194T>G
|
rs10425460
|
|
|
NM_001127222.2(CACNA1A):c.1256-267TAAA[2]
|
rs142629187
|
|
|
NM_001127222.2(CACNA1A):c.1256C>T (p.Ala419Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.126C>G (p.Pro42=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1320T>C (p.Asp440=)
|
rs1555766555
|
|
|
NM_001127222.2(CACNA1A):c.1343T>C (p.Val448Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.1345+4A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1346-3C>T
|
rs867600983
|
|
|
NM_001127222.2(CACNA1A):c.1346-6T>C
|
rs1352231097
|
|
|
NM_001127222.2(CACNA1A):c.1354T>G (p.Phe452Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter)
|
rs886039668
|
|
|
NM_001127222.2(CACNA1A):c.1373A>G (p.Lys458Arg)
|
rs1239292406
|
|
|
NM_001127222.2(CACNA1A):c.1382A>C (p.Lys461Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.1396A>G (p.Thr466Ala)
|
rs2145051461
|
|
|
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys)
|
rs1401413921
|
|
|
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs)
|
rs1555762908
|
|
|
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val)
|
rs1555762900
|
|
|
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His)
|
rs1568528172
|
|
|
NM_001127222.2(CACNA1A):c.146A>C (p.Lys49Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs)
|
rs1555762855
|
|
|
NM_001127222.2(CACNA1A):c.1504T>C (p.Cys502Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1507G>C (p.Val503Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1520A>G (p.His507Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln)
|
rs375210532
|
|
|
NM_001127222.2(CACNA1A):c.1541T>C (p.Leu514Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.1555+10A>C
|
rs794727022
|
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
|
NM_001127222.2(CACNA1A):c.1555+5G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1556A>C (p.Tyr519Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.155T>C (p.Met52Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.1560T>G (p.Tyr520Ter)
|
rs1431177448
|
|
|
NM_001127222.2(CACNA1A):c.156G>A (p.Met52Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.1582C>T (p.Leu528Phe)
|
rs2145030759
|
|
|
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs)
|
rs1555761603
|
|
|
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1609A>C (p.Met537Leu)
|
rs2145030626
|
|
|
NM_001127222.2(CACNA1A):c.1615G>A (p.Gly539Arg)
|
rs2145030587
|
|
|
NM_001127222.2(CACNA1A):c.1619T>G (p.Leu540Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.1628_1643dup (p.Ser549fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.1640A>G (p.His547Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.1654T>G (p.Cys552Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.1655G>T (p.Cys552Phe)
|
rs2058057217
|
|
|
NM_001127222.2(CACNA1A):c.165A>G (p.Arg55=)
|
rs2145192452
|
|
|
NM_001127222.2(CACNA1A):c.1668+3A>G
|
|
|
|
NM_001127222.2(CACNA1A):c.1668+9T>C
|
rs794727054
|
|
|
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe)
|
rs1568519134
|
|
|
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys)
|
rs1057519099
|
|
|
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala)
|
rs2145005688
|
|
|
NM_001127222.2(CACNA1A):c.1724C>T (p.Ser575Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.1739T>A (p.Val580Glu)
|
rs1064797233
|
|
|
NM_001127222.2(CACNA1A):c.173_175del (p.Thr58del)
|
rs1064795796
|
|
|
NM_001127222.2(CACNA1A):c.1744C>T (p.Arg582Ter)
|
rs2057953268
|
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
|
NM_001127222.2(CACNA1A):c.1762C>T (p.Arg588Cys)
|
rs1282985383
|
|
|
NM_001127222.2(CACNA1A):c.1763G>A (p.Arg588His)
|
|
|
|
NM_001127222.2(CACNA1A):c.176T>C (p.Met59Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.1781+3A>C
|
|
|
|
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr)
|
rs2145005448
|
|
|
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs)
|
rs1600293149
|
|
|
NM_001127222.2(CACNA1A):c.1782-37C>T
|
rs200221609
|
|
|
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)
|
rs2057948502
|
|
|
NM_001127222.2(CACNA1A):c.1822A>T (p.Asn608Tyr)
|
rs1476877900
|
|
|
NM_001127222.2(CACNA1A):c.1825T>A (p.Ser609Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn)
|
rs1600292598
|
|
|
NM_001127222.2(CACNA1A):c.1870A>G (p.Ile624Val)
|
rs2145004096
|
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
|
NM_001127222.2(CACNA1A):c.1885C>A (p.Leu629Ile)
|
rs2145003975
|
|
|
NM_001127222.2(CACNA1A):c.1889T>C (p.Leu630Ser)
|
rs1057521564
|
|
|
NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1906G>C (p.Gly636Arg)
|
rs943419160
|
|
|
NM_001127222.2(CACNA1A):c.191C>A (p.Pro64His)
|
rs2145192387
|
|
|
NM_001127222.2(CACNA1A):c.1923C>A (p.Phe641Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
|
|
|
|
NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.1946del (p.Asn649fs)
|
rs1568518113
|
|
|
NM_001127222.2(CACNA1A):c.1951G>T (p.Asp651Tyr)
|
rs1244229103
|
|
|
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=)
|
rs1600291631
|
|
|
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala)
|
rs2145002197
|
|
|
NM_001127222.2(CACNA1A):c.1978_1980del (p.Val660del)
|
rs2057937382
|
|
|
NM_001127222.2(CACNA1A):c.1984C>T (p.Gln662Ter)
|
rs1064795856
|
|
|
NM_001127222.2(CACNA1A):c.1986+1G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.1987-9C>A
|
rs747420630
|
|
|
NM_001127222.2(CACNA1A):c.1991T>C (p.Leu664Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
|
NM_001127222.2(CACNA1A):c.1996G>A (p.Gly666Ser)
|
rs2144980934
|
|
|
NM_001127222.2(CACNA1A):c.1996G>C (p.Gly666Arg)
|
rs2144980934
|
|
|
NM_001127222.2(CACNA1A):c.1999G>A (p.Glu667Lys)
|
rs2057842904
|
|
|
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)
|
rs1555757537
|
|
|
NM_001127222.2(CACNA1A):c.2011G>A (p.Glu671Lys)
|
rs1434942721
|
|
|
NM_001127222.2(CACNA1A):c.2018T>C (p.Met673Thr)
|
rs1064796036
|
|
|
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg)
|
rs2144980758
|
|
|
NM_001127222.2(CACNA1A):c.202C>T (p.Arg68Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
|
NM_001127222.2(CACNA1A):c.2039del (p.Gln680fs)
|
rs1555757523
|
|
|
NM_001127222.2(CACNA1A):c.203G>A (p.Arg68Gln)
|
rs576099495
|
|
|
NM_001127222.2(CACNA1A):c.203_214del (p.Arg68_Cys71del)
|
|
|
|
NM_001127222.2(CACNA1A):c.2045G>T (p.Gly682Val)
|
rs1057524618
|
|
|
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser)
|
rs1064795643
|
|
|
NM_001127222.2(CACNA1A):c.2074T>C (p.Tyr692His)
|
rs2144980511
|
|
|
NM_001127222.2(CACNA1A):c.2092C>T (p.Leu698Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)
|
rs886041654
|
|
|
NM_001127222.2(CACNA1A):c.2131A>T (p.Ile711Phe)
|
rs1568514116
|
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2144A>G (p.Asn715Ser)
|
rs1555757432
|
|
|
NM_001127222.2(CACNA1A):c.2154C>T (p.Asn718=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
|
NM_001127222.2(CACNA1A):c.2172+4G>A
|
rs1600283002
|
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
|
NM_001127222.2(CACNA1A):c.2279+223dup
|
rs60111064
|
|
|
NM_001127222.2(CACNA1A):c.2279+232del
|
rs60111064
|
|
|
NM_001127222.2(CACNA1A):c.227G>A (p.Arg76Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2292G>C (p.Gln764His)
|
rs747111223
|
|
|
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)
|
rs771905201
|
|
|
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer)
|
rs1057520154
|
|
|
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs)
|
rs2057740525
|
|
|
NM_001127222.2(CACNA1A):c.2320T>C (p.Trp774Arg)
|
rs1568509826
|
|
|
NM_001127222.2(CACNA1A):c.2330G>A (p.Arg777Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2345G>A (p.Arg782Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His)
|
rs2144958118
|
|
|
NM_001127222.2(CACNA1A):c.2362G>A (p.Ala788Thr)
|
rs1568509752
|
|
|
NM_001127222.2(CACNA1A):c.2369G>A (p.Arg790Gln)
|
rs2144957956
|
|
|
NM_001127222.2(CACNA1A):c.2374G>A (p.Ala792Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr)
|
rs121908241
|
|
|
NM_001127222.2(CACNA1A):c.2395C>A (p.Pro799Thr)
|
rs2144957730
|
|
|
NM_001127222.2(CACNA1A):c.2404C>T (p.Arg802Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2413G>T (p.Ala805Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.2426G>A (p.Arg809Gln)
|
rs2057737782
|
|
|
NM_001127222.2(CACNA1A):c.2427G>T (p.Arg809=)
|
rs1600273948
|
|
|
NM_001127222.2(CACNA1A):c.2428C>T (p.His810Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2430C>A (p.His810Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=)
|
rs201998077
|
|
|
NM_001127222.2(CACNA1A):c.2471T>A (p.Val824Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2481G>A (p.Pro827=)
|
rs1568509413
|
|
|
NM_001127222.2(CACNA1A):c.2484G>C (p.Gln828His)
|
|
|
|
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro)
|
rs1242675074
|
|
|
NM_001127222.2(CACNA1A):c.2495ACA[2] (p.Asn834del)
|
rs750962335
|
|
|
NM_001127222.2(CACNA1A):c.2504_2506del (p.Thr835del)
|
rs2144957032
|
|
|
NM_001127222.2(CACNA1A):c.2505C>T (p.Thr835=)
|
rs1246254915
|
|
|
NM_001127222.2(CACNA1A):c.2515C>T (p.Arg839Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2516G>A (p.Arg839Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.2518_2529delinsCGG (p.Ala840_Pro843delinsArg)
|
rs2144956802
|
|
|
NM_001127222.2(CACNA1A):c.2530A>G (p.Thr844Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter)
|
rs1420078244
|
|
|
NM_001127222.2(CACNA1A):c.2549G>A (p.Gly850Asp)
|
rs2144956644
|
|
|
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter)
|
rs1600273534
|
|
|
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala)
|
rs2057734618
|
|
|
NM_001127222.2(CACNA1A):c.2575A>G (p.Arg859Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2582_2599del (p.Gln861_Asp866del)
|
rs767951499
|
|
|
NM_001127222.2(CACNA1A):c.2584G>A (p.Ala862Thr)
|
rs1283974516
|
|
|
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr)
|
rs1175516920
|
|
|
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro)
|
rs1057518589
|
|
|
NM_001127222.2(CACNA1A):c.2611C>G (p.Pro871Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser)
|
rs780462531
|
|
|
NM_001127222.2(CACNA1A):c.2617G>C (p.Gly873Arg)
|
rs750660386
|
|
|
NM_001127222.2(CACNA1A):c.2617G>T (p.Gly873Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
|
NM_001127222.2(CACNA1A):c.2627G>C (p.Gly876Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.2657G>A (p.Ser886Asn)
|
rs2144955896
|
|
|
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg)
|
rs1358948688
|
|
|
NM_001127222.2(CACNA1A):c.2690dup (p.Tyr897Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
|
NM_001127222.2(CACNA1A):c.2715C>T (p.Ala905=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn)
|
rs1248444650
|
|
|
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln)
|
rs953766694
|
|
|
NM_001127222.2(CACNA1A):c.2734C>T (p.Gln912Ter)
|
rs1555756161
|
|
|
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser)
|
rs886043758
|
|
|
NM_001127222.2(CACNA1A):c.2739C>G (p.Pro913=)
|
rs16021
|
|
|
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=)
|
rs16021
|
|
|
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys)
|
rs1555756130
|
|
|
NM_001127222.2(CACNA1A):c.2764C>T (p.Arg922Ter)
|
rs2144954990
|
|
|
NM_001127222.2(CACNA1A):c.2773G>A (p.Ala925Thr)
|
rs2144954889
|
|
|
NM_001127222.2(CACNA1A):c.2789G>C (p.Arg930Pro)
|
rs766234558
|
|
|
NM_001127222.2(CACNA1A):c.2807A>T (p.Gln936Leu)
|
rs1179931638
|
|
|
NM_001127222.2(CACNA1A):c.2809G>T (p.Gly937Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
|
NM_001127222.2(CACNA1A):c.2828G>A (p.Arg943His)
|
rs753862352
|
|
|
NM_001127222.2(CACNA1A):c.2833G>C (p.Gly945Arg)
|
rs527593196
|
|
|
NM_001127222.2(CACNA1A):c.2837C>T (p.Ser946Phe)
|
rs1156960165
|
|
|
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs)
|
rs1555755977
|
|
|
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg)
|
rs1057518292
|
|
|
NM_001127222.2(CACNA1A):c.2866C>T (p.Arg956Ter)
|
rs1245624754
|
|
|
NM_001127222.2(CACNA1A):c.2867G>A (p.Arg956Gln)
|
rs551380805
|
|
|
NM_001127222.2(CACNA1A):c.2870G>A (p.Arg957His)
|
|
|
|
NM_001127222.2(CACNA1A):c.2875C>T (p.Arg959Cys)
|
rs2144953917
|
|
|
NM_001127222.2(CACNA1A):c.2885G>T (p.Arg962Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.2893G>C (p.Gly965Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys)
|
rs747456771
|
|
|
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2899G>T (p.Glu967Ter)
|
rs1555755929
|
|
|
NM_001127222.2(CACNA1A):c.2903G>A (p.Gly968Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2903del (p.Gly968fs)
|
rs1555755926
|
|
|
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)
|
rs1555755909
|
|
|
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu)
|
rs2144953504
|
|
|
NM_001127222.2(CACNA1A):c.2924G>T (p.Arg975Leu)
|
rs748418783
|
|
|
NM_001127222.2(CACNA1A):c.2930C>T (p.Ala977Val)
|
rs1432898385
|
|
|
NM_001127222.2(CACNA1A):c.2931G>C (p.Ala977=)
|
|
|
|
NM_001127222.2(CACNA1A):c.2933G>C (p.Arg978Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.2935C>T (p.His979Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.2936_2938dup (p.His979dup)
|
rs2144953287
|
|
|
NM_001127222.2(CACNA1A):c.2938C>G (p.Arg980Gly)
|
rs778978325
|
|
|
NM_001127222.2(CACNA1A):c.2939G>A (p.Arg980His)
|
rs1422954956
|
|
|
NM_001127222.2(CACNA1A):c.2947_2973del (p.Ser983_Gly991del)
|
|
|
|
NM_001127222.2(CACNA1A):c.2954C>T (p.Pro985Leu)
|
rs1478798895
|
|
|
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.2957C>A (p.Ala986Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)
|
rs1555755878
|
|
|
NM_001127222.2(CACNA1A):c.2959C>T (p.Arg987Trp)
|
rs1489702072
|
|
|
NM_001127222.2(CACNA1A):c.2960G>C (p.Arg987Pro)
|
rs955869211
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[1] (p.990EG[1])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[2] (p.990EG[2])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4])
|
rs764399373
|
|
|
NM_001127222.2(CACNA1A):c.2974G>T (p.Glu992Ter)
|
rs2057722066
|
|
|
NM_001127222.2(CACNA1A):c.2980G>T (p.Glu994Ter)
|
rs1600271575
|
|
|
NM_001127222.2(CACNA1A):c.2986C>G (p.Pro996Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn)
|
rs2057721376
|
|
|
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs)
|
rs2057721188
|
|
|
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu)
|
rs1424294725
|
|
|
NM_001127222.2(CACNA1A):c.3002_3019del (p.Arg1001_Arg1006del)
|
|
|
|
NM_001127222.2(CACNA1A):c.3009A>T (p.Arg1003Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)
|
rs1268938831
|
|
|
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)
|
rs886037944
|
|
|
NM_001127222.2(CACNA1A):c.3025G>A (p.Ala1009Thr)
|
rs1555755834
|
|
|
NM_001127222.2(CACNA1A):c.3025G>T (p.Ala1009Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.302A>C (p.Glu101Ala)
|
rs2060985088
|
|
|
NM_001127222.2(CACNA1A):c.3034_3048del (p.Thr1012_Asp1016del)
|
|
|
|
NM_001127222.2(CACNA1A):c.3039C>A (p.Tyr1013Ter)
|
rs1568507151
|
|
|
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn)
|
rs2057719269
|
|
|
NM_001127222.2(CACNA1A):c.3049G>C (p.Ala1017Pro)
|
rs1131691393
|
|
|
NM_001127222.2(CACNA1A):c.3051G>C (p.Ala1017=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3055_3057delinsGGA (p.Arg1019Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.3058_3075dup (p.Arg1025_His1026insGluAspLysGluArgArg)
|
|
|
|
NM_001127222.2(CACNA1A):c.3061G>A (p.Asp1021Asn)
|
rs2144951917
|
|
|
NM_001127222.2(CACNA1A):c.3075G>T (p.Arg1025Ser)
|
rs1327191177
|
|
|
NM_001127222.2(CACNA1A):c.3076C>G (p.His1026Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3079C>G (p.Arg1027Gly)
|
rs1064794406
|
|
|
NM_001127222.2(CACNA1A):c.3079C>T (p.Arg1027Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3084G>A (p.Arg1028=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3085A>G (p.Arg1029Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.3086G>A (p.Arg1029Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3089+47_3089+49del
|
rs575123090
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
|
NM_001127222.2(CACNA1A):c.3092A>G (p.Glu1031Gly)
|
rs886043930
|
|
|
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp)
|
rs2144889565
|
|
|
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs)
|
rs1131691712
|
|
|
NM_001127222.2(CACNA1A):c.3109G>A (p.Val1037Ile)
|
rs769061598
|
|
|
NM_001127222.2(CACNA1A):c.3112C>T (p.Pro1038Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr)
|
rs2057414935
|
|
|
NM_001127222.2(CACNA1A):c.3154C>T (p.Gln1052Ter)
|
rs1568495944
|
|
|
NM_001127222.2(CACNA1A):c.3167G>C (p.Arg1056Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.3169del (p.Gln1057fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.317C>T (p.Ala106Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.3187G>C (p.Glu1063Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.3189G>A (p.Glu1063=)
|
rs2057413345
|
|
|
NM_001127222.2(CACNA1A):c.3190G>A (p.Asp1064Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.3202A>T (p.Met1068Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs)
|
rs1555753042
|
|
|
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser)
|
rs1467243087
|
|
|
NM_001127222.2(CACNA1A):c.3247G>C (p.Gly1083Arg)
|
rs753077104
|
|
|
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs)
|
rs1555752975
|
|
|
NM_001127222.2(CACNA1A):c.3265G>A (p.Gly1089Ser)
|
rs201311000
|
|
|
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys)
|
rs201311000
|
|
|
NM_001127222.2(CACNA1A):c.3266G>A (p.Gly1089Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3280C>T (p.Pro1094Ser)
|
rs761596969
|
|
|
NM_001127222.2(CACNA1A):c.329C>T (p.Ala110Val)
|
rs1085307798
|
|
|
NM_001127222.2(CACNA1A):c.3302C>T (p.Thr1101Ile)
|
rs768567834
|
|
|
NM_001127222.2(CACNA1A):c.3324dup (p.Ile1109fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe)
|
rs1568495538
|
|
|
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro)
|
rs199745070
|
|
|
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)
|
rs775079497
|
|
|
NM_001127222.2(CACNA1A):c.3399T>G (p.Asn1133Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3400C>T (p.Pro1134Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3404G>C (p.Gly1135Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3410C>T (p.Pro1137Leu)
|
rs200333359
|
|
|
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs)
|
rs746790849
|
|
|
NM_001127222.2(CACNA1A):c.3411dup (p.Lys1138fs)
|
rs746790849
|
|
|
NM_001127222.2(CACNA1A):c.3413A>G (p.Lys1138Arg)
|
rs746555911
|
|
|
NM_001127222.2(CACNA1A):c.3416C>T (p.Thr1139Ile)
|
rs2144887603
|
|
|
NM_001127222.2(CACNA1A):c.3431T>C (p.Leu1144Pro)
|
rs1600245588
|
|
|
NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter)
|
rs201612257
|
|
|
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)
|
rs992828062
|
|
|
NM_001127222.2(CACNA1A):c.3467C>T (p.Ser1156Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3469G>C (p.Ala1157Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.346G>T (p.Ala116Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr)
|
rs1256731049
|
|
|
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly)
|
rs766027931
|
|
|
NM_001127222.2(CACNA1A):c.3497C>A (p.Thr1166Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.3518C>G (p.Ala1173Gly)
|
rs778036647
|
|
|
NM_001127222.2(CACNA1A):c.3521G>T (p.Cys1174Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.3523C>T (p.Pro1175Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3524C>T (p.Pro1175Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
|
NM_001127222.2(CACNA1A):c.3527C>A (p.Pro1176His)
|
|
|
|
NM_001127222.2(CACNA1A):c.3529C>A (p.Pro1177Thr)
|
rs1057522207
|
|
|
NM_001127222.2(CACNA1A):c.3529C>G (p.Pro1177Ala)
|
rs1057522207
|
|
|
NM_001127222.2(CACNA1A):c.3529C>T (p.Pro1177Ser)
|
rs1057522207
|
|
|
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)
|
rs201789073
|
|
|
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=)
|
rs184723350
|
|
|
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)
|
rs556266465
|
|
|
NM_001127222.2(CACNA1A):c.3532C>T (p.Leu1178Phe)
|
rs556266465
|
|
|
NM_001127222.2(CACNA1A):c.3532del (p.Leu1178fs)
|
rs757953057
|
|
|
NM_001127222.2(CACNA1A):c.3532dup (p.Leu1178fs)
|
rs757953057
|
|
|
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs)
|
rs1568494824
|
|
|
NM_001127222.2(CACNA1A):c.3535A>C (p.Asn1179His)
|
rs964526144
|
|
|
NM_001127222.2(CACNA1A):c.3536A>G (p.Asn1179Ser)
|
rs2144886914
|
|
|
NM_001127222.2(CACNA1A):c.354G>C (p.Glu118Asp)
|
rs2144947250
|
|
|
NM_001127222.2(CACNA1A):c.3553+5G>C
|
rs1600245165
|
|
|
NM_001127222.2(CACNA1A):c.3569A>G (p.Asn1190Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn)
|
rs773649403
|
|
|
NM_001127222.2(CACNA1A):c.3590A>C (p.Lys1197Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3593A>G (p.Glu1198Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.3596A>G (p.Glu1199Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.35A>T (p.Tyr12Phe)
|
rs994265107
|
|
|
NM_001127222.2(CACNA1A):c.3601AAG[1] (p.Lys1202del)
|
rs772989979
|
|
|
NM_001127222.2(CACNA1A):c.3606GGA[3] (p.Glu1206del)
|
rs750826355
|
|
|
NM_001127222.2(CACNA1A):c.3609G>A (p.Glu1203=)
|
rs529584159
|
|
|
NM_001127222.2(CACNA1A):c.3613G>A (p.Glu1205Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3625C>A (p.Arg1209Ser)
|
rs781026181
|
|
|
NM_001127222.2(CACNA1A):c.3625C>T (p.Arg1209Cys)
|
rs781026181
|
|
|
NM_001127222.2(CACNA1A):c.3633A>C (p.Glu1211Asp)
|
rs1555752275
|
|
|
NM_001127222.2(CACNA1A):c.3637G>A (p.Gly1213Ser)
|
rs767000559
|
|
|
NM_001127222.2(CACNA1A):c.3637G>T (p.Gly1213Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3638G>A (p.Gly1213Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.3644A>G (p.Lys1215Arg)
|
rs1425955042
|
|
|
NM_001127222.2(CACNA1A):c.368A>G (p.Asp123Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
|
NM_001127222.2(CACNA1A):c.3692+31G>T
|
rs111602970
|
|
|
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs)
|
rs1568493323
|
|
|
NM_001127222.2(CACNA1A):c.3698G>A (p.Arg1233His)
|
|
|
|
NM_001127222.2(CACNA1A):c.3727C>T (p.Arg1243Cys)
|
rs1057524818
|
|
|
NM_001127222.2(CACNA1A):c.3728G>A (p.Arg1243His)
|
|
|
|
NM_001127222.2(CACNA1A):c.372T>G (p.Asp124Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.3731A>G (p.Tyr1244Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.3735dup (p.Glu1246Ter)
|
|
|
|
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr)
|
rs1085307644
|
|
|
NM_001127222.2(CACNA1A):c.3770G>A (p.Ser1257Asn)
|
rs2144871537
|
|
|
NM_001127222.2(CACNA1A):c.3775G>A (p.Ala1259Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)
|
rs1555751762
|
|
|
NM_001127222.2(CACNA1A):c.3797T>C (p.Val1266Ala)
|
rs2144871393
|
|
|
NM_001127222.2(CACNA1A):c.37G>C (p.Gly13Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=)
|
rs557721660
|
|
|
NM_001127222.2(CACNA1A):c.3815G>A (p.Arg1272Gln)
|
rs2057331138
|
|
|
NM_001127222.2(CACNA1A):c.3817AAC[1] (p.Asn1274del)
|
rs1085307864
|
|
|
NM_001127222.2(CACNA1A):c.3820A>G (p.Asn1274Asp)
|
rs2144871278
|
|
|
NM_001127222.2(CACNA1A):c.3822+1G>A
|
rs794727355
|
|
|
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)
|
rs121909323
|
|
|
NM_001127222.2(CACNA1A):c.3848T>C (p.Phe1283Ser)
|
rs2057169274
|
|
|
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
|
|
|
|
NM_001127222.2(CACNA1A):c.3856G>A (p.Val1286Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.3868G>C (p.Glu1290Gln)
|
rs2144839606
|
|
|
NM_001127222.2(CACNA1A):c.3882+2T>C
|
rs2057168559
|
|
|
NM_001127222.2(CACNA1A):c.3882+45del
|
rs34471308
|
|
|
NM_001127222.2(CACNA1A):c.399+1G>C
|
rs2060983144
|
|
|
NM_001127222.2(CACNA1A):c.3990-2A>G
|
rs1057524483
|
|
|
NM_001127222.2(CACNA1A):c.400-1G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr)
|
rs1568473283
|
|
|
NM_001127222.2(CACNA1A):c.4020G>T (p.Thr1340=)
|
rs370735316
|
|
|
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.4033C>T (p.Arg1345Ter)
|
rs1568473233
|
|
|
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln)
|
rs121908230
|
|
|
NM_001127222.2(CACNA1A):c.4034G>T (p.Arg1345Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4035_4043del (p.1346VLR[1])
|
|
|
|
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)
|
rs1064794858
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.4043G>C (p.Arg1348Pro)
|
rs1057520918
|
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
|
NM_001127222.2(CACNA1A):c.4052G>C (p.Arg1351Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.4052G>T (p.Arg1351Leu)
|
rs1555745467
|
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
|
NM_001127222.2(CACNA1A):c.4067T>G (p.Ile1356Ser)
|
rs886041541
|
|
|
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)
|
rs1555745461
|
|
|
NM_001127222.2(CACNA1A):c.4079C>A (p.Pro1360Gln)
|
rs1064795800
|
|
|
NM_001127222.2(CACNA1A):c.4089+5_4089+6del
|
rs368911651
|
|
|
NM_001127222.2(CACNA1A):c.409G>A (p.Glu137Lys)
|
rs1057518116
|
|
|
NM_001127222.2(CACNA1A):c.41_55dup (p.Gly14_Gly18dup)
|
rs1057519100
|
|
|
NM_001127222.2(CACNA1A):c.41del (p.Gly14fs)
|
rs1555797179
|
|
|
NM_001127222.2(CACNA1A):c.422T>C (p.Ile141Thr)
|
rs2144936441
|
|
|
NM_001127222.2(CACNA1A):c.4251-7G>A
|
rs761136437
|
|
|
NM_001127222.2(CACNA1A):c.4269C>T (p.Tyr1423=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4270G>A (p.Glu1424Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.4276A>G (p.Asn1426Asp)
|
rs1005591842
|
|
|
NM_001127222.2(CACNA1A):c.4281G>T (p.Glu1427Asp)
|
rs768693060
|
|
|
NM_001127222.2(CACNA1A):c.428T>A (p.Ile143Asn)
|
rs2144936410
|
|
|
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=)
|
rs555959123
|
|
|
NM_001127222.2(CACNA1A):c.4297C>T (p.Arg1433Trp)
|
rs1275025158
|
|
|
NM_001127222.2(CACNA1A):c.4298G>A (p.Arg1433Gln)
|
rs2144758462
|
|
|
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn)
|
rs1443877971
|
|
|
NM_001127222.2(CACNA1A):c.4337T>C (p.Leu1446Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.4383G>A (p.Trp1461Ter)
|
rs1057518069
|
|
|
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys)
|
rs1568659847
|
|
|
NM_001127222.2(CACNA1A):c.439G>C (p.Glu147Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.43G>A (p.Gly15Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp)
|
rs2056602306
|
|
|
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs)
|
rs2056602254
|
|
|
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=)
|
rs750865024
|
|
|
NM_001127222.2(CACNA1A):c.4448G>A (p.Arg1483His)
|
|
|
|
NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu)
|
rs1271930393
|
|
|
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys)
|
rs1064795901
|
|
|
NM_001127222.2(CACNA1A):c.4473C>G (p.Val1491=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4478A>G (p.Tyr1493Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)
|
rs886041279
|
|
|
NM_001127222.2(CACNA1A):c.4499T>G (p.Phe1500Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.4501_4503del (p.Phe1501del)
|
rs1131691374
|
|
|
NM_001127222.2(CACNA1A):c.4520C>A (p.Ala1507Asp)
|
rs1064794629
|
|
|
NM_001127222.2(CACNA1A):c.4527C>G (p.Ile1509Met)
|
rs2144748282
|
|
|
NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg)
|
rs752888622
|
|
|
NM_001127222.2(CACNA1A):c.455T>A (p.Ile152Asn)
|
|
|
|
NM_001127222.2(CACNA1A):c.4573A>C (p.Ser1525Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)
|
rs2056600119
|
|
|
NM_001127222.2(CACNA1A):c.4594G>A (p.Ala1532Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.4618G>C (p.Ala1540Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.4625C>T (p.Pro1542Leu)
|
rs773901223
|
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
|
NM_001127222.2(CACNA1A):c.4643C>T (p.Pro1548Leu)
|
rs1275097177
|
|
|
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter)
|
rs1600180457
|
|
|
NM_001127222.2(CACNA1A):c.4669C>T (p.Arg1557Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.4684G>A (p.Val1562Met)
|
rs1568465560
|
|
|
NM_001127222.2(CACNA1A):c.4684G>C (p.Val1562Leu)
|
rs1568465560
|
|
|
NM_001127222.2(CACNA1A):c.4694C>T (p.Pro1565Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4694dup (p.Pro1566fs)
|
rs1600180395
|
|
|
NM_001127222.2(CACNA1A):c.4708A>T (p.Thr1570Ser)
|
rs750368591
|
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
|
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs)
|
rs1599289383
|
|
|
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr)
|
rs2056510591
|
|
|
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.4741G>A (p.Val1581Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.4747A>C (p.Met1583Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4756-216del
|
rs34069029
|
|
|
NM_001127222.2(CACNA1A):c.4760A>G (p.Tyr1587Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.4764G>A (p.Gly1588=)
|
rs1294804448
|
|
|
NM_001127222.2(CACNA1A):c.4765del (p.Ala1589fs)
|
rs2144726274
|
|
|
NM_001127222.2(CACNA1A):c.4783_4786delinsCA (p.Asn1595fs)
|
rs2144726226
|
|
|
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.4793G>A (p.Arg1598Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.4801A>G (p.Asn1601Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs)
|
rs2056443833
|
|
|
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)
|
rs781413708
|
|
|
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.4867-7dup
|
rs2056196193
|
|
|
NM_001127222.2(CACNA1A):c.4872T>C (p.Tyr1624=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)
|
rs771061659
|
|
|
NM_001127222.2(CACNA1A):c.4878C>T (p.Arg1626=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
|
NM_001127222.2(CACNA1A):c.4916G>A (p.Gly1639Asp)
|
rs2144691967
|
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
|
NM_001127222.2(CACNA1A):c.4936G>C (p.Val1646Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter)
|
rs2056193902
|
|
|
NM_001127222.2(CACNA1A):c.4949G>A (p.Gly1650Glu)
|
|
|
|
NM_001127222.2(CACNA1A):c.4950+3662G>T
|
rs1600152215
|
|
|
NM_001127222.2(CACNA1A):c.4950+3668C>T
|
|
|
|
NM_001127222.2(CACNA1A):c.4950+6T>C
|
|
|
|
NM_001127222.2(CACNA1A):c.4950+72G>A
|
rs16037
|
|
|
NM_001127222.2(CACNA1A):c.4956C>T (p.Asn1652=)
|
|
|
|
NM_001127222.2(CACNA1A):c.4975C>T (p.Leu1659Phe)
|
rs2144649877
|
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
|
NM_001127222.2(CACNA1A):c.4987C>T (p.Arg1663Ter)
|
rs1555738369
|
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
|
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp)
|
rs121908220
|
|
|
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)
|
rs1568447650
|
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
|
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp)
|
rs895744093
|
|
|
NM_001127222.2(CACNA1A):c.5021G>T (p.Gly1674Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.5048C>T (p.Thr1683Ile)
|
rs1568447571
|
|
|
NM_001127222.2(CACNA1A):c.504C>G (p.Gly168=)
|
rs1555789105
|
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
|
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)
|
rs2055848608
|
|
|
NM_001127222.2(CACNA1A):c.5068-49C>T
|
rs373831178
|
|
|
NM_001127222.2(CACNA1A):c.5068G>A (p.Ala1690Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5069C>A (p.Ala1690Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.5069C>T (p.Ala1690Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter)
|
rs2144936148
|
|
|
NM_001127222.2(CACNA1A):c.5098A>G (p.Met1700Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys)
|
rs931963287
|
|
|
NM_001127222.2(CACNA1A):c.50C>T (p.Ser17Phe)
|
|
|
|
NM_001127222.2(CACNA1A):c.5117C>T (p.Ala1706Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.511G>A (p.Val171Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
|
NM_001127222.2(CACNA1A):c.5125G>A (p.Gly1709Arg)
|
rs1555738200
|
|
|
NM_001127222.2(CACNA1A):c.5130G>A (p.Met1710Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.5131C>A (p.Gln1711Lys)
|
rs1064795751
|
|
|
NM_001127222.2(CACNA1A):c.5133+5G>A
|
rs2144647781
|
|
|
NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.5146A>C (p.Ile1716Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly)
|
rs1273682125
|
|
|
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5171A>G (p.Asp1724Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn)
|
rs1436816057
|
|
|
NM_001127222.2(CACNA1A):c.5209A>T (p.Asn1737Tyr)
|
rs2144646664
|
|
|
NM_001127222.2(CACNA1A):c.5213T>C (p.Phe1738Ser)
|
rs2144646654
|
|
|
NM_001127222.2(CACNA1A):c.5215C>T (p.Arg1739Trp)
|
rs2144646626
|
|
|
NM_001127222.2(CACNA1A):c.5216G>A (p.Arg1739Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.5232C>A (p.Ala1744=)
|
rs1600138370
|
|
|
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
|
NM_001127222.2(CACNA1A):c.5248del (p.Arg1750fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.5249+165_5249+189del
|
rs202051301
|
|
|
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)
|
rs781588570
|
|
|
NM_001127222.2(CACNA1A):c.5253T>G (p.Ser1751Arg)
|
rs2144629875
|
|
|
NM_001127222.2(CACNA1A):c.5258C>G (p.Thr1753Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)
|
rs1555737113
|
|
|
NM_001127222.2(CACNA1A):c.5261G>T (p.Gly1754Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met)
|
rs1057521920
|
|
|
NM_001127222.2(CACNA1A):c.526G>C (p.Val176Leu)
|
rs1057521920
|
|
|
NM_001127222.2(CACNA1A):c.526del (p.Val176fs)
|
rs2144936041
|
|
|
NM_001127222.2(CACNA1A):c.5295C>T (p.Leu1765=)
|
|
|
|
NM_001127222.2(CACNA1A):c.529G>T (p.Val177Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.5312A>G (p.Asp1771Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.532C>G (p.Leu178Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter)
|
rs2144629622
|
|
|
NM_001127222.2(CACNA1A):c.5341T>C (p.Cys1781Arg)
|
rs1600130730
|
|
|
NM_001127222.2(CACNA1A):c.5342del (p.Cys1781fs)
|
rs1600130724
|
|
|
NM_001127222.2(CACNA1A):c.5392T>C (p.Ser1798Pro)
|
rs1568443280
|
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
|
NM_001127222.2(CACNA1A):c.5400+2T>C
|
rs1057519197
|
|
|
NM_001127222.2(CACNA1A):c.5401-13G>A
|
rs2144622540
|
|
|
NM_001127222.2(CACNA1A):c.5401-9T>A
|
|
|
|
NM_001127222.2(CACNA1A):c.5405T>C (p.Leu1802Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
|
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)
|
rs121908214
|
|
|
NM_001127222.2(CACNA1A):c.5452C>T (p.Arg1818Ter)
|
rs267606696
|
|
|
NM_001127222.2(CACNA1A):c.5453G>C (p.Arg1818Pro)
|
rs745900417
|
|
|
NM_001127222.2(CACNA1A):c.5455G>A (p.Asp1819Asn)
|
rs867018315
|
|
|
NM_001127222.2(CACNA1A):c.5464A>G (p.Ile1822Val)
|
rs1600127153
|
|
|
NM_001127222.2(CACNA1A):c.5468T>C (p.Leu1823Pro)
|
rs1057521706
|
|
|
NM_001127222.2(CACNA1A):c.5471G>A (p.Gly1824Asp)
|
rs1064795321
|
|
|
NM_001127222.2(CACNA1A):c.5476del (p.His1826fs)
|
rs1600127096
|
|
|
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)
|
rs2055610097
|
|
|
NM_001127222.2(CACNA1A):c.5479C>G (p.His1827Asp)
|
rs1064795658
|
|
|
NM_001127222.2(CACNA1A):c.5488G>A (p.Glu1830Lys)
|
rs746886324
|
|
|
NM_001127222.2(CACNA1A):c.5494G>A (p.Val1832Met)
|
|
|
|
NM_001127222.2(CACNA1A):c.5517C>A (p.Asp1839Glu)
|
rs372083869
|
|
|
NM_001127222.2(CACNA1A):c.5528+1019del
|
rs61098915
|
|
|
NM_001127222.2(CACNA1A):c.5528+1206C>G
|
rs78385489
|
|
|
NM_001127222.2(CACNA1A):c.5529-1078CT[6]
|
rs34941295
|
|
|
NM_001127222.2(CACNA1A):c.5529-1078CT[8]
|
rs34941295
|
|
|
NM_001127222.2(CACNA1A):c.5529-1080_5529-1077del
|
rs36088930
|
|
|
NM_001127222.2(CACNA1A):c.5529-1098AT[8]
|
rs74181814
|
|
|
NM_001127222.2(CACNA1A):c.5529-1098AT[9]
|
rs74181814
|
|
|
NM_001127222.2(CACNA1A):c.5529-969_5529-968del
|
rs148014508
|
|
|
NM_001127222.2(CACNA1A):c.5530G>A (p.Gly1844Ser)
|
rs1568439088
|
|
|
NM_001127222.2(CACNA1A):c.5552T>C (p.Met1851Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.55G>A (p.Ala19Thr)
|
rs923359230
|
|
|
NM_001127222.2(CACNA1A):c.560C>T (p.Thr187Met)
|
rs1015798325
|
|
|
NM_001127222.2(CACNA1A):c.5625+50CTT[4]
|
rs143245670
|
|
|
NM_001127222.2(CACNA1A):c.5625+63dup
|
rs527479319
|
|
|
NM_001127222.2(CACNA1A):c.5625+69_5625+71del
|
rs527479319
|
|
|
NM_001127222.2(CACNA1A):c.562G>C (p.Glu188Gln)
|
rs2059326934
|
|
|
NM_001127222.2(CACNA1A):c.5636G>A (p.Arg1879Gln)
|
rs1010331313
|
|
|
NM_001127222.2(CACNA1A):c.5645T>C (p.Leu1882Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
|
|
|
|
NM_001127222.2(CACNA1A):c.5653G>A (p.Ala1885Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5654C>G (p.Ala1885Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5659G>T (p.Asp1887Tyr)
|
rs2144595137
|
|
|
NM_001127222.2(CACNA1A):c.5663A>G (p.Asn1888Ser)
|
rs756378742
|
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
|
NM_001127222.2(CACNA1A):c.5696T>C (p.Leu1899Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)
|
rs2144595024
|
|
|
NM_001127222.2(CACNA1A):c.5731+162dup
|
rs71168691
|
|
|
NM_001127222.2(CACNA1A):c.5731+178_5731+180del
|
rs71168691
|
|
|
NM_001127222.2(CACNA1A):c.5731+330dup
|
rs71168690
|
|
|
NM_001127222.2(CACNA1A):c.5731+342del
|
rs71168690
|
|
|
NM_001127222.2(CACNA1A):c.5731G>A (p.Gly1911Arg)
|
rs751603485
|
|
|
NM_001127222.2(CACNA1A):c.5732-39del
|
rs559922012
|
|
|
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.5753T>C (p.Met1918Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5755G>A (p.Asp1919Asn)
|
rs1064794441
|
|
|
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln)
|
rs121908211
|
|
|
NM_001127222.2(CACNA1A):c.5761G>A (p.Glu1921Lys)
|
rs2144537759
|
|
|
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys)
|
rs2144537491
|
|
|
NM_001127222.2(CACNA1A):c.5824G>A (p.Val1942Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.5827A>G (p.Thr1943Ala)
|
rs2144537372
|
|
|
NM_001127222.2(CACNA1A):c.5839+1G>T
|
rs951196653
|
|
|
NM_001127222.2(CACNA1A):c.5840-15TG[3]
|
|
|
|
NM_001127222.2(CACNA1A):c.5840-82C>G
|
rs17846925
|
|
|
NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs)
|
rs2144536044
|
|
|
NM_001127222.2(CACNA1A):c.5866T>C (p.Tyr1956His)
|
|
|
|
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)
|
rs1085307557
|
|
|
NM_001127222.2(CACNA1A):c.5891A>G (p.Tyr1964Cys)
|
rs1555732391
|
|
|
NM_001127222.2(CACNA1A):c.5896C>T (p.Arg1966Trp)
|
rs1269205597
|
|
|
NM_001127222.2(CACNA1A):c.5897G>T (p.Arg1966Leu)
|
rs199886234
|
|
|
NM_001127222.2(CACNA1A):c.589G>A (p.Val197Ile)
|
rs1005884911
|
|
|
NM_001127222.2(CACNA1A):c.5915A>C (p.Lys1972Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.592C>G (p.Arg198Gly)
|
rs886042230
|
|
|
NM_001127222.2(CACNA1A):c.592C>T (p.Arg198Ter)
|
rs886042230
|
|
|
NM_001127222.2(CACNA1A):c.5930G>A (p.Arg1977His)
|
rs1057521547
|
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
|
NM_001127222.2(CACNA1A):c.5941-109GT[10]
|
rs61178346
|
|
|
NM_001127222.2(CACNA1A):c.5941-109GT[12]
|
rs61178346
|
|
|
NM_001127222.2(CACNA1A):c.5941-109GT[13]
|
rs61178346
|
|
|
NM_001127222.2(CACNA1A):c.5941-109GT[14]
|
rs61178346
|
|
|
NM_001127222.2(CACNA1A):c.5941-109GT[15]
|
rs61178346
|
|
|
NM_001127222.2(CACNA1A):c.5941-109GT[16]
|
rs61178346
|
|
|
NM_001127222.2(CACNA1A):c.5941-86_5941-85del
|
rs201343124
|
|
|
NM_001127222.2(CACNA1A):c.5944C>T (p.Arg1982Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.5948C>T (p.Thr1983Ile)
|
rs947850652
|
|
|
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=)
|
rs2054861464
|
|
|
NM_001127222.2(CACNA1A):c.5971G>C (p.Glu1991Gln)
|
rs2054860673
|
|
|
NM_001127222.2(CACNA1A):c.5987C>G (p.Thr1996Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6026C>A (p.Thr2009Asn)
|
rs776574979
|
|
|
NM_001127222.2(CACNA1A):c.6028C>T (p.Gln2010Ter)
|
rs1355062450
|
|
|
NM_001127222.2(CACNA1A):c.602G>A (p.Arg201Gln)
|
rs2059326410
|
|
|
NM_001127222.2(CACNA1A):c.6030G>T (p.Gln2010His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6031C>T (p.Leu2011=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6037C>A (p.Pro2013Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter)
|
rs746848153
|
|
|
NM_001127222.2(CACNA1A):c.6051-1G>A
|
rs2144525222
|
|
|
NM_001127222.2(CACNA1A):c.6051-7C>G
|
rs776664699
|
|
|
NM_001127222.2(CACNA1A):c.6058C>T (p.His2020Tyr)
|
rs2144525195
|
|
|
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu)
|
rs2144559262
|
|
|
NM_001127222.2(CACNA1A):c.6060C>A (p.His2020Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6065G>A (p.Ser2022Asn)
|
rs2144525162
|
|
|
NM_001127222.2(CACNA1A):c.6073A>C (p.Lys2025Gln)
|
rs2144525077
|
|
|
NM_001127222.2(CACNA1A):c.6079A>G (p.Ser2027Gly)
|
rs2054851950
|
|
|
NM_001127222.2(CACNA1A):c.6081C>A (p.Ser2027Arg)
|
rs2144525037
|
|
|
NM_001127222.2(CACNA1A):c.6085T>C (p.Ser2029Pro)
|
|
|
|
NM_001127222.2(CACNA1A):c.6097C>T (p.Gln2033Ter)
|
rs2144524927
|
|
|
NM_001127222.2(CACNA1A):c.6098A>G (p.Gln2033Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.60C>T (p.Ala20=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6107A>T (p.Gln2036Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.6114del (p.Met2038fs)
|
rs1064796199
|
|
|
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg)
|
rs2144559219
|
|
|
NM_001127222.2(CACNA1A):c.6147_6163del (p.Gln2049fs)
|
rs2144524536
|
|
|
NM_001127222.2(CACNA1A):c.6151_6152insT (p.Pro2051fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6155C>T (p.Pro2052Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.6155del (p.Pro2052fs)
|
rs1158454977
|
|
|
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs)
|
rs1158454977
|
|
|
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)
|
rs974724726
|
|
|
NM_001127222.2(CACNA1A):c.6189+1G>A
|
rs2144524396
|
|
|
NM_001127222.2(CACNA1A):c.6189+28G>C
|
rs375925559
|
|
|
NM_001127222.2(CACNA1A):c.6189+35G>A
|
rs143518953
|
|
|
NM_001127222.2(CACNA1A):c.6189+74A>C
|
rs16048
|
|
|
NM_001127222.2(CACNA1A):c.6190-2A>C
|
rs1064796709
|
|
|
NM_001127222.2(CACNA1A):c.6202C>T (p.Arg2068Ter)
|
rs779221807
|
|
|
NM_001127222.2(CACNA1A):c.6205G>A (p.Glu2069Lys)
|
rs543458967
|
|
|
NM_001127222.2(CACNA1A):c.6217G>C (p.Asp2073His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6229G>T (p.Asp2077Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg)
|
rs1568581246
|
|
|
NM_001127222.2(CACNA1A):c.6247C>T (p.Pro2083Ser)
|
rs1244966977
|
|
|
NM_001127222.2(CACNA1A):c.6250A>G (p.Met2084Val)
|
rs1451713531
|
|
|
NM_001127222.2(CACNA1A):c.6263G>C (p.Gly2088Ala)
|
rs759252101
|
|
|
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=)
|
rs200093958
|
|
|
NM_001127222.2(CACNA1A):c.6265C>T (p.Arg2089Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6272C>T (p.Ala2091Val)
|
rs377051916
|
|
|
NM_001127222.2(CACNA1A):c.6278T>C (p.Met2093Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.6303+50G>A
|
rs376767532
|
|
|
NM_001127222.2(CACNA1A):c.6303+94del
|
rs3217380
|
|
|
NM_001127222.2(CACNA1A):c.6304-13G>A
|
|
|
|
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)
|
rs866974416
|
|
|
NM_001127222.2(CACNA1A):c.631+4C>T
|
rs1568581241
|
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
|
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu)
|
rs373229577
|
|
|
NM_001127222.2(CACNA1A):c.632-211dup
|
rs34216609
|
|
|
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His)
|
rs867865729
|
|
|
NM_001127222.2(CACNA1A):c.6327G>A (p.Gly2109=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6340-1G>C
|
|
|
|
NM_001127222.2(CACNA1A):c.6341C>T (p.Thr2114Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.6358C>T (p.Pro2120Ser)
|
rs2054721635
|
|
|
NM_001127222.2(CACNA1A):c.6359C>T (p.Pro2120Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.6361A>T (p.Met2121Leu)
|
rs1317004203
|
|
|
NM_001127222.2(CACNA1A):c.6362T>C (p.Met2121Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.6365A>G (p.Lys2122Arg)
|
rs2144506548
|
|
|
NM_001127222.2(CACNA1A):c.6367C>G (p.Arg2123Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His)
|
rs1220294928
|
|
|
NM_001127222.2(CACNA1A):c.6371C>T (p.Ser2124Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.638A>G (p.Gln213Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6394_6423del (p.Ala2132_Glu2141del)
|
|
|
|
NM_001127222.2(CACNA1A):c.6395C>T (p.Ala2132Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
|
NM_001127222.2(CACNA1A):c.6406G>C (p.Asp2136His)
|
rs1173266790
|
|
|
NM_001127222.2(CACNA1A):c.6408_6409insTAGCCTG (p.Asp2137Ter)
|
rs2054719760
|
|
|
NM_001127222.2(CACNA1A):c.6409G>A (p.Asp2137Asn)
|
rs755880731
|
|
|
NM_001127222.2(CACNA1A):c.6419T>G (p.Leu2140Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln)
|
rs1268148205
|
|
|
NM_001127222.2(CACNA1A):c.6432G>A (p.Pro2144=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly)
|
rs756780624
|
|
|
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del)
|
rs1469809752
|
|
|
NM_001127222.2(CACNA1A):c.6464G>A (p.Arg2155His)
|
rs572722130
|
|
|
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6466C>T (p.Arg2156Cys)
|
rs554393704
|
|
|
NM_001127222.2(CACNA1A):c.6469G>C (p.Asp2157His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)
|
rs17846928
|
|
|
NM_001127222.2(CACNA1A):c.6487T>G (p.Ser2163Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.6489dup (p.Glu2164Ter)
|
rs1555730801
|
|
|
NM_001127222.2(CACNA1A):c.6490G>C (p.Glu2164Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6514G>A (p.Asp2172Asn)
|
rs370289732
|
|
|
NM_001127222.2(CACNA1A):c.6514G>T (p.Asp2172Tyr)
|
rs370289732
|
|
|
NM_001127222.2(CACNA1A):c.6515A>G (p.Asp2172Gly)
|
rs2054713924
|
|
|
NM_001127222.2(CACNA1A):c.6526+124G>C
|
rs2304093
|
|
|
NM_001127222.2(CACNA1A):c.6526+84G>A
|
rs73509459
|
|
|
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=)
|
rs2054695798
|
|
|
NM_001127222.2(CACNA1A):c.6529T>G (p.Leu2177Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
|
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro)
|
rs2144502972
|
|
|
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)
|
rs201991581
|
|
|
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del)
|
rs763941704
|
|
|
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu)
|
rs1983011989
|
|
|
NM_001127222.2(CACNA1A):c.6604C>T (p.Pro2202Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.6613C>G (p.Arg2205Gly)
|
rs780467849
|
|
|
NM_001127222.2(CACNA1A):c.6613C>T (p.Arg2205Trp)
|
rs780467849
|
|
|
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
|
|
|
|
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup)
|
rs1247003992
|
|
|
NM_001127222.2(CACNA1A):c.6627G>C (p.Gln2209His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6627_6629dup (p.Gln2209_His2210insGln)
|
|
|
|
NM_001127222.2(CACNA1A):c.6627_6632dup (p.His2210_His2211insGlnHis)
|
|
|
|
NM_001127222.2(CACNA1A):c.6630C>G (p.His2210Gln)
|
rs1006425986
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[7] (p.His2218_His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6630CCA[8] (p.His2219del)
|
rs759331923
|
|
|
NM_001127222.2(CACNA1A):c.6635A>G (p.His2212Arg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6637C>T (p.His2213Tyr)
|
rs1555730624
|
|
|
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg)
|
rs1600079735
|
|
|
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)
|
rs770368215
|
|
|
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del)
|
rs776181081
|
|
|
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del)
|
rs774721955
|
|
|
NM_001127222.2(CACNA1A):c.6654C>T (p.His2218=)
|
rs2144501874
|
|
|
NM_001127222.2(CACNA1A):c.6656_6657delinsCC (p.His2219Pro)
|
rs1085307607
|
|
|
NM_001127222.2(CACNA1A):c.6656_6658del (p.His2219del)
|
rs749638821
|
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
|
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)
|
rs768950814
|
|
|
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)
|
rs16052
|
|
|
NM_001127222.2(CACNA1A):c.6660C>A (p.Pro2220=)
|
rs771726163
|
|
|
NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
|
|
|
|
NM_001127222.2(CACNA1A):c.6666_6672del (p.Pro2223fs)
|
|
|
|
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)
|
rs2304094
|
|
|
NM_001127222.2(CACNA1A):c.6680G>A (p.Arg2227His)
|
rs1064793075
|
|
|
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu)
|
rs1064793075
|
|
|
NM_001127222.2(CACNA1A):c.6682T>C (p.Tyr2228His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter)
|
rs2054683190
|
|
|
NM_001127222.2(CACNA1A):c.6696dup (p.Pro2233fs)
|
rs2144501188
|
|
|
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg)
|
rs758639263
|
|
|
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=)
|
rs771429351
|
|
|
NM_001127222.2(CACNA1A):c.6781-121_6781-116del
|
rs148672975
|
|
|
NM_001127222.2(CACNA1A):c.6781-12A>G
|
rs1289629816
|
|
|
NM_001127222.2(CACNA1A):c.6781-130_6781-122del
|
rs757555243
|
|
|
NM_001127222.2(CACNA1A):c.6781-139_6781-122del
|
rs878905432
|
|
|
NM_001127222.2(CACNA1A):c.6781-148TCC[3]
|
rs376408077
|
|
|
NM_001127222.2(CACNA1A):c.6781-148TCC[4]
|
rs376408077
|
|
|
NM_001127222.2(CACNA1A):c.6781-148TCC[5]
|
rs376408077
|
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
|
NM_001127222.2(CACNA1A):c.6834_6875dup (p.Arg2294_Pro2295insArgGlyArgArgGlnLeuProGlnThrProSerThrProArg)
|
|
|
|
NM_001127222.2(CACNA1A):c.6839G>T (p.Arg2280Leu)
|
|
|
|
NM_001127222.2(CACNA1A):c.6841C>T (p.Arg2281Trp)
|
|
|
|
NM_001127222.2(CACNA1A):c.6848G>A (p.Arg2283His)
|
|
|
|
NM_001127222.2(CACNA1A):c.6885A>C (p.Pro2295=)
|
|
|
|
NM_001127222.2(CACNA1A):c.6894C>T (p.Ser2298=)
|
|
|
|
NM_001127222.2(CACNA1A):c.68T>C (p.Val23Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.6923G>A (p.Gly2308Asp)
|
|
|
|
NM_001127222.2(CACNA1A):c.692T>G (p.Leu231Arg)
|
rs1599292506
|
|
|
NM_001127222.2(CACNA1A):c.6981G>A (p.Val2327=)
|
|
|
|
NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu)
|
rs1421650967
|
|
|
NM_001127222.2(CACNA1A):c.7097G>C (p.Arg2366Thr)
|
|
|
|
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)
|
rs2054617959
|
|
|
NM_001127222.2(CACNA1A):c.7124C>T (p.Ala2375Val)
|
|
|
|
NM_001127222.2(CACNA1A):c.7151G>A (p.Arg2384Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.7165C>T (p.Arg2389Trp)
|
rs987861675
|
|
|
NM_001127222.2(CACNA1A):c.716T>C (p.Ile239Thr)
|
rs1599292445
|
|
|
NM_001127222.2(CACNA1A):c.7190T>C (p.Val2397Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.7194C>G (p.Ser2398=)
|
rs774776009
|
|
|
NM_001127222.2(CACNA1A):c.7203C>T (p.Pro2401=)
|
rs1218506473
|
|
|
NM_001127222.2(CACNA1A):c.7210C>G (p.Pro2404Ala)
|
|
|
|
NM_001127222.2(CACNA1A):c.7219C>T (p.His2407Tyr)
|
|
|
|
NM_001127222.2(CACNA1A):c.7235G>T (p.Gly2412Val)
|
rs775829854
|
|
|
NM_001127222.2(CACNA1A):c.7240G>A (p.Asp2414Asn)
|
rs1568416040
|
|
|
NM_001127222.2(CACNA1A):c.7242C>T (p.Asp2414=)
|
|
|
|
NM_001127222.2(CACNA1A):c.7254C>T (p.Ala2418=)
|
|
|
|
NM_001127222.2(CACNA1A):c.7263G>A (p.Pro2421=)
|
|
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
|
NM_001127222.2(CACNA1A):c.7275C>T (p.Gly2425=)
|
|
|
|
NM_001127222.2(CACNA1A):c.7282G>A (p.Glu2428Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.72C>T (p.Val24=)
|
rs773531250
|
|
|
NM_001127222.2(CACNA1A):c.7301A>G (p.Tyr2434Cys)
|
|
|
|
NM_001127222.2(CACNA1A):c.7317dup (p.Val2440fs)
|
rs1214586505
|
|
|
NM_001127222.2(CACNA1A):c.7318G>A (p.Val2440Ile)
|
|
|
|
NM_001127222.2(CACNA1A):c.7318_7332dup (p.Ser2444_Ser2445insValArgHisAlaSer)
|
|
|
|
NM_001127222.2(CACNA1A):c.7322G>A (p.Arg2441Gln)
|
|
|
|
NM_001127222.2(CACNA1A):c.7344C>G (p.Thr2448=)
|
rs770109102
|
|
|
NM_001127222.2(CACNA1A):c.7347G>A (p.Gly2449=)
|
|
|
|
NM_001127222.2(CACNA1A):c.7348C>T (p.Arg2450Cys)
|
rs1397153104
|
|
|
NM_001127222.2(CACNA1A):c.7369G>T (p.Ala2457Ser)
|
rs954720308
|
|
|
NM_001127222.2(CACNA1A):c.736G>A (p.Glu246Lys)
|
|
|
|
NM_001127222.2(CACNA1A):c.7378_7402del (p.Pro2460fs)
|
rs2144488778
|
|
|
NM_001127222.2(CACNA1A):c.7391C>T (p.Ser2464Leu)
|
rs1171910645
|
|
|
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln)
|
rs1199275549
|
|
|
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)
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rs1199275549
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NM_001127222.2(CACNA1A):c.7408C>T (p.Arg2470Trp)
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NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His)
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rs779631503
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NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)
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NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly)
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rs758817759
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NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)
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rs539546830
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NM_001127222.2(CACNA1A):c.7458C>A (p.Arg2486=)
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NM_001127222.2(CACNA1A):c.7491C>T (p.Pro2497=)
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rs1368524598
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NM_001127222.2(CACNA1A):c.751A>G (p.Lys251Glu)
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rs2144522916
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NM_001127222.2(CACNA1A):c.75G>T (p.Val25=)
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NM_001127222.2(CACNA1A):c.762C>T (p.Thr254=)
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NM_001127222.2(CACNA1A):c.772G>A (p.Glu258Lys)
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NM_001127222.2(CACNA1A):c.781A>G (p.Thr261Ala)
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NM_001127222.2(CACNA1A):c.784+3A>G
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NM_001127222.2(CACNA1A):c.784G>A (p.Asp262Asn)
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NM_001127222.2(CACNA1A):c.785-239dup
|
rs200920495
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NM_001127222.2(CACNA1A):c.788A>G (p.Asp263Gly)
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NM_001127222.2(CACNA1A):c.811C>G (p.Pro271Ala)
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NM_001127222.2(CACNA1A):c.814T>C (p.Cys272Arg)
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rs1568569290
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NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)
|
rs2059069286
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NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
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rs1013100046
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NM_001127222.2(CACNA1A):c.833C>T (p.Ala278Val)
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rs1064796561
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NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
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rs1555773764
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NM_001127222.2(CACNA1A):c.849T>C (p.Asn283=)
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NM_001127222.2(CACNA1A):c.853A>C (p.Thr285Pro)
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rs2145245518
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NM_001127222.2(CACNA1A):c.865C>T (p.Pro289Ser)
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NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
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rs121908215
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NM_001127222.2(CACNA1A):c.880C>T (p.Pro294Ser)
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NM_001127222.2(CACNA1A):c.885C>A (p.Asn295Lys)
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NM_001127222.2(CACNA1A):c.885C>G (p.Asn295Lys)
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NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)
|
rs1168625480
|
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NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu)
|
rs1599276954
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NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
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NM_001127222.2(CACNA1A):c.904G>C (p.Asp302His)
|
rs863224852
|
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NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)
|
rs2059067761
|
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|
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)
|
rs1599276914
|
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NM_001127222.2(CACNA1A):c.920C>T (p.Ala307Val)
|
rs1599276891
|
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NM_001127222.2(CACNA1A):c.922G>C (p.Val308Leu)
|
rs778912392
|
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|
NM_001127222.2(CACNA1A):c.967CTC[1] (p.Leu324del)
|
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NM_001127222.2(CACNA1A):c.976A>G (p.Asn326Asp)
|
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|