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.462C>T (p.Ala154=)
|
rs1800039
|
0.00699
|
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.5840-14G>A
|
rs184658006
|
0.00082
|
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.5732-6T>C
|
rs16043
|
0.00041
|
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.1199-17G>C
|
rs190836274
|
0.00034
|
NM_001127222.2(CACNA1A):c.5249+29T>C
|
rs17846914
|
0.00033
|
NM_001127222.2(CACNA1A):c.4926C>T (p.Thr1642=)
|
rs16036
|
0.00031
|
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.62C>T (p.Ala21Val)
|
rs15999
|
0.00025
|
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.3035C>A (p.Thr1012Lys)
|
rs573941336
|
0.00023
|
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.4866+13T>C
|
rs368876802
|
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.784+10C>T
|
rs781363787
|
0.00018
|
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.-27A>G
|
rs761508895
|
0.00016
|
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.6339+11C>T
|
rs190260468
|
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.4388+8G>A
|
rs376248243
|
0.00013
|
NM_001127222.2(CACNA1A):c.539+20C>T
|
rs369959565
|
0.00013
|
NM_001127222.2(CACNA1A):c.539+9C>T
|
rs369146237
|
0.00013
|
NM_001127222.2(CACNA1A):c.7328C>T (p.Ala2443Val)
|
rs763414737
|
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.4290G>A (p.Ala1430=)
|
rs555959123
|
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.3166C>T (p.Arg1056Cys)
|
rs187393245
|
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.4756-4C>T
|
rs199841998
|
0.00009
|
NM_001127222.2(CACNA1A):c.5134-20G>A
|
rs756590078
|
0.00009
|
NM_001127222.2(CACNA1A):c.539+17A>G
|
rs752280152
|
0.00009
|
NM_001127222.2(CACNA1A):c.6044G>A (p.Gly2015Glu)
|
rs772988279
|
0.00009
|
NM_001127222.2(CACNA1A):c.6051-20G>A
|
rs371831228
|
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.1668+20A>G
|
rs543880615
|
0.00008
|
NM_001127222.2(CACNA1A):c.2010C>T (p.Asn670=)
|
rs779250946
|
0.00008
|
NM_001127222.2(CACNA1A):c.321C>T (p.Thr107=)
|
rs759754710
|
0.00008
|
NM_001127222.2(CACNA1A):c.3368G>A (p.Arg1123Gln)
|
rs769497214
|
0.00008
|
NM_001127222.2(CACNA1A):c.3607G>A (p.Glu1203Lys)
|
rs375415852
|
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.4779T>C (p.Tyr1593=)
|
rs774619836
|
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.3048C>G (p.Asp1016Glu)
|
rs773821155
|
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_001127222.2(CACNA1A):c.6527-16C>T
|
rs752985059
|
0.00007
|
NM_001127222.2(CACNA1A):c.-34G>T
|
rs897702047
|
0.00006
|
NM_001127222.2(CACNA1A):c.1353C>G (p.Pro451=)
|
rs569115027
|
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.2940C>G (p.Arg980=)
|
rs1188340576
|
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.4388+12G>A
|
rs924927963
|
0.00006
|
NM_001127222.2(CACNA1A):c.4404G>A (p.Ser1468=)
|
rs557205300
|
0.00006
|
NM_001127222.2(CACNA1A):c.4710G>A (p.Thr1570=)
|
rs761547761
|
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.5529-1245T>C
|
rs368791169
|
0.00006
|
NM_001127222.2(CACNA1A):c.5731+14A>G
|
rs762304728
|
0.00006
|
NM_001127222.2(CACNA1A):c.5731+14_5731+15del
|
rs775317628
|
0.00006
|
NM_001127222.2(CACNA1A):c.5740G>A (p.Asp1914Asn)
|
rs371957992
|
0.00006
|
NM_001127222.2(CACNA1A):c.5940+12G>A
|
rs780841537
|
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.831C>T (p.Pro277=)
|
rs568635317
|
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.2328G>A (p.Gln776=)
|
rs754796882
|
0.00005
|
NM_001127222.2(CACNA1A):c.2547C>T (p.Leu849=)
|
rs768719398
|
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.5931C>T (p.Arg1977=)
|
rs377136737
|
0.00005
|
NM_001127222.2(CACNA1A):c.631+15G>A
|
rs372178435
|
0.00005
|
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=)
|
rs202216404
|
0.00005
|
NM_001127222.2(CACNA1A):c.6379G>A (p.Val2127Met)
|
rs368183370
|
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.6695G>A (p.Arg2232Gln)
|
rs777894367
|
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_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.1627C>T (p.Arg543Trp)
|
rs1349147232
|
0.00004
|
NM_001127222.2(CACNA1A):c.2105-8A>G
|
rs763822129
|
0.00004
|
NM_001127222.2(CACNA1A):c.219G>C (p.Thr73=)
|
rs781239273
|
0.00004
|
NM_001127222.2(CACNA1A):c.2279+12del
|
rs764839773
|
0.00004
|
NM_001127222.2(CACNA1A):c.2280-16_2280-7del
|
rs756552078
|
0.00004
|
NM_001127222.2(CACNA1A):c.2677C>T (p.Arg893Trp)
|
rs1262547488
|
0.00004
|
NM_001127222.2(CACNA1A):c.2692G>A (p.Gly898Ser)
|
rs751726770
|
0.00004
|
NM_001127222.2(CACNA1A):c.2712C>T (p.His904=)
|
rs759320715
|
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.2881C>T (p.His961Tyr)
|
rs1406066197
|
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.3120G>A (p.Ser1040=)
|
rs763969240
|
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.3612G>A (p.Glu1204=)
|
rs749273165
|
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.3882+7G>A
|
rs376836245
|
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.4521C>A (p.Ala1507=)
|
rs183712771
|
0.00004
|
NM_001127222.2(CACNA1A):c.4755+46G>A
|
rs190809550
|
0.00004
|
NM_001127222.2(CACNA1A):c.4866+10A>G
|
rs746939321
|
0.00004
|
NM_001127222.2(CACNA1A):c.486C>T (p.Gly162=)
|
rs753180610
|
0.00004
|
NM_001127222.2(CACNA1A):c.4879G>A (p.Asp1627Asn)
|
rs573209959
|
0.00004
|
NM_001127222.2(CACNA1A):c.4891A>G (p.Ile1631Val)
|
rs539463134
|
0.00004
|
NM_001127222.2(CACNA1A):c.5067+11G>A
|
rs761890193
|
0.00004
|
NM_001127222.2(CACNA1A):c.5095G>A (p.Ala1699Thr)
|
rs371273055
|
0.00004
|
NM_001127222.2(CACNA1A):c.539+10G>A
|
rs375079448
|
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.5528+7A>G
|
rs367551746
|
0.00004
|
NM_001127222.2(CACNA1A):c.5529-1222T>C
|
rs374688464
|
0.00004
|
NM_001127222.2(CACNA1A):c.5922G>A (p.Gln1974=)
|
rs773419069
|
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.6189+9G>T
|
rs568861195
|
0.00004
|
NM_001127222.2(CACNA1A):c.6235G>A (p.Glu2079Lys)
|
rs752513542
|
0.00004
|
NM_001127222.2(CACNA1A):c.6304-14T>C
|
rs776930613
|
0.00004
|
NM_001127222.2(CACNA1A):c.631+14C>T
|
rs1377159542
|
0.00004
|
NM_001127222.2(CACNA1A):c.6339+12G>A
|
rs371246823
|
0.00004
|
NM_001127222.2(CACNA1A):c.6339+9C>T
|
rs369361580
|
0.00004
|
NM_001127222.2(CACNA1A):c.6572C>T (p.Pro2191Leu)
|
rs377294817
|
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.784+9A>G
|
rs746215285
|
0.00004
|
NM_001127222.2(CACNA1A):c.-11C>T
|
rs1057522015
|
0.00003
|
NM_001127222.2(CACNA1A):c.1191A>G (p.Ser397=)
|
rs781149861
|
0.00003
|
NM_001127222.2(CACNA1A):c.1348T>C (p.Ser450Pro)
|
rs1308599413
|
0.00003
|
NM_001127222.2(CACNA1A):c.1369A>G (p.Ile457Val)
|
rs774203605
|
0.00003
|
NM_001127222.2(CACNA1A):c.1442G>A (p.Arg481His)
|
rs763944721
|
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.198C>T (p.Pro66=)
|
rs774731482
|
0.00003
|
NM_001127222.2(CACNA1A):c.1990C>T (p.Leu664=)
|
rs1246140836
|
0.00003
|
NM_001127222.2(CACNA1A):c.1998C>T (p.Gly666=)
|
rs373695561
|
0.00003
|
NM_001127222.2(CACNA1A):c.2028G>A (p.Gly676=)
|
rs369129616
|
0.00003
|
NM_001127222.2(CACNA1A):c.2259G>A (p.Ala753=)
|
rs765929251
|
0.00003
|
NM_001127222.2(CACNA1A):c.2263A>G (p.Asn755Asp)
|
rs762466161
|
0.00003
|
NM_001127222.2(CACNA1A):c.2400C>G (p.Asp800Glu)
|
rs376074188
|
0.00003
|
NM_001127222.2(CACNA1A):c.2487G>A (p.Glu829=)
|
rs755434242
|
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.3090-6C>T
|
rs758040795
|
0.00003
|
NM_001127222.2(CACNA1A):c.3105C>T (p.Ser1035=)
|
rs768168157
|
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.3490G>A (p.Asp1164Asn)
|
rs775838621
|
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.4411G>A (p.Ala1471Thr)
|
rs1187916307
|
0.00003
|
NM_001127222.2(CACNA1A):c.4470C>T (p.Tyr1490=)
|
rs1353710115
|
0.00003
|
NM_001127222.2(CACNA1A):c.4609G>A (p.Ala1537Thr)
|
rs773209223
|
0.00003
|
NM_001127222.2(CACNA1A):c.4626G>A (p.Pro1542=)
|
rs768317498
|
0.00003
|
NM_001127222.2(CACNA1A):c.4951-14C>T
|
rs1019678447
|
0.00003
|
NM_001127222.2(CACNA1A):c.5400+3G>A
|
rs1034627495
|
0.00003
|
NM_001127222.2(CACNA1A):c.5421C>T (p.Ala1807=)
|
rs372359926
|
0.00003
|
NM_001127222.2(CACNA1A):c.5453G>A (p.Arg1818Gln)
|
rs745900417
|
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.5528+1273T>C
|
rs371000214
|
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.5898G>A (p.Arg1966=)
|
rs370834253
|
0.00003
|
NM_001127222.2(CACNA1A):c.5932G>A (p.Glu1978Lys)
|
rs1266642291
|
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.6051-4G>A
|
rs1199529097
|
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.6130A>G (p.Thr2044Ala)
|
rs566781445
|
0.00003
|
NM_001127222.2(CACNA1A):c.6192C>T (p.Ser2064=)
|
rs974692135
|
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.6340-19G>A
|
rs916904971
|
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.654G>A (p.Ser218=)
|
rs201991581
|
0.00003
|
NM_001127222.2(CACNA1A):c.6614G>A (p.Arg2205Gln)
|
rs756685971
|
0.00003
|
NM_001127222.2(CACNA1A):c.6624A>C (p.Arg2208=)
|
rs556858383
|
0.00003
|
NM_001127222.2(CACNA1A):c.6644A>C (p.His2215Pro)
|
rs1233829101
|
0.00003
|
NM_001127222.2(CACNA1A):c.6665C>T (p.Pro2222Leu)
|
rs1336146310
|
0.00003
|
NM_001127222.2(CACNA1A):c.6669C>A (p.Pro2223=)
|
rs2304094
|
0.00003
|
NM_001127222.2(CACNA1A):c.6699G>A (p.Pro2233=)
|
rs1312330476
|
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_001127222.2(CACNA1A):c.745A>G (p.Met249Val)
|
rs1005732031
|
0.00003
|
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.1246C>G (p.Pro416Ala)
|
rs371138043
|
0.00002
|
NM_001127222.2(CACNA1A):c.1248C>G (p.Pro416=)
|
rs1158411031
|
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.1394C>T (p.Ser465Leu)
|
rs544363291
|
0.00002
|
NM_001127222.2(CACNA1A):c.1438C>T (p.Arg480Cys)
|
rs1189054127
|
0.00002
|
NM_001127222.2(CACNA1A):c.1513A>G (p.Ile505Val)
|
rs750557478
|
0.00002
|
NM_001127222.2(CACNA1A):c.1556-17C>T
|
rs755361841
|
0.00002
|
NM_001127222.2(CACNA1A):c.1716T>C (p.Pro572=)
|
rs923412087
|
0.00002
|
NM_001127222.2(CACNA1A):c.1737C>T (p.Ser579=)
|
rs371161901
|
0.00002
|
NM_001127222.2(CACNA1A):c.1881C>T (p.Phe627=)
|
rs371268760
|
0.00002
|
NM_001127222.2(CACNA1A):c.2256C>T (p.Ser752=)
|
rs764816582
|
0.00002
|
NM_001127222.2(CACNA1A):c.2280-16G>A
|
rs759745350
|
0.00002
|
NM_001127222.2(CACNA1A):c.2377C>T (p.Leu793=)
|
rs759875039
|
0.00002
|
NM_001127222.2(CACNA1A):c.2434C>T (p.Arg812Trp)
|
rs369084322
|
0.00002
|
NM_001127222.2(CACNA1A):c.2483A>G (p.Gln828Arg)
|
rs753196787
|
0.00002
|
NM_001127222.2(CACNA1A):c.2532C>T (p.Thr844=)
|
rs761929729
|
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.285C>T (p.Thr95=)
|
rs758206206
|
0.00002
|
NM_001127222.2(CACNA1A):c.2889G>A (p.Arg963=)
|
rs1390620211
|
0.00002
|
NM_001127222.2(CACNA1A):c.2890C>T (p.Pro964Ser)
|
rs1383144531
|
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.3045G>A (p.Gly1015=)
|
rs1400869068
|
0.00002
|
NM_001127222.2(CACNA1A):c.3078T>A (p.His1026Gln)
|
rs1202322408
|
0.00002
|
NM_001127222.2(CACNA1A):c.3089+16C>T
|
rs897924558
|
0.00002
|
NM_001127222.2(CACNA1A):c.3142C>T (p.Arg1048Trp)
|
rs753402026
|
0.00002
|
NM_001127222.2(CACNA1A):c.3178C>T (p.Pro1060Ser)
|
rs969592968
|
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.3403G>A (p.Gly1135Ser)
|
rs762006290
|
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.3426T>C (p.Asn1142=)
|
rs1326349920
|
0.00002
|
NM_001127222.2(CACNA1A):c.3436G>A (p.Val1146Ile)
|
rs376365775
|
0.00002
|
NM_001127222.2(CACNA1A):c.3526C>T (p.Pro1176Ser)
|
rs1458640910
|
0.00002
|
NM_001127222.2(CACNA1A):c.3786C>T (p.Ala1262=)
|
rs572832442
|
0.00002
|
NM_001127222.2(CACNA1A):c.4089+3G>A
|
rs781595676
|
0.00002
|
NM_001127222.2(CACNA1A):c.4251-19T>A
|
rs763689584
|
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.4530C>T (p.Ile1510=)
|
rs371060261
|
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.4617C>T (p.Ser1539=)
|
rs1051975
|
0.00002
|
NM_001127222.2(CACNA1A):c.4662C>G (p.Phe1554Leu)
|
rs182161386
|
0.00002
|
NM_001127222.2(CACNA1A):c.4695G>A (p.Pro1565=)
|
rs753924411
|
0.00002
|
NM_001127222.2(CACNA1A):c.4772T>C (p.Val1591Ala)
|
rs770150171
|
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.539+12G>A
|
rs148855231
|
0.00002
|
NM_001127222.2(CACNA1A):c.540-20T>C
|
rs756413933
|
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.5529-1267G>A
|
rs141565870
|
0.00002
|
NM_001127222.2(CACNA1A):c.5731+14del
|
rs762645821
|
0.00002
|
NM_001127222.2(CACNA1A):c.5731+20G>A
|
rs774752183
|
0.00002
|
NM_001127222.2(CACNA1A):c.5732-20T>C
|
rs1425639727
|
0.00002
|
NM_001127222.2(CACNA1A):c.5758G>A (p.Ala1920Thr)
|
rs766012999
|
0.00002
|
NM_001127222.2(CACNA1A):c.5839+15C>T
|
rs756095565
|
0.00002
|
NM_001127222.2(CACNA1A):c.5844G>A (p.Thr1948=)
|
rs368203745
|
0.00002
|
NM_001127222.2(CACNA1A):c.5979G>A (p.Pro1993=)
|
rs540390772
|
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.6229G>A (p.Asp2077Asn)
|
rs757223826
|
0.00002
|
NM_001127222.2(CACNA1A):c.6234C>T (p.Ser2078=)
|
rs758320697
|
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.6451C>T (p.His2151Tyr)
|
rs1005361810
|
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.6472C>T (p.Arg2158Cys)
|
rs774289573
|
0.00002
|
NM_001127222.2(CACNA1A):c.6482G>A (p.Arg2161His)
|
rs769503871
|
0.00002
|
NM_001127222.2(CACNA1A):c.6506G>A (p.Arg2169His)
|
rs1417890059
|
0.00002
|
NM_001127222.2(CACNA1A):c.6513C>T (p.Thr2171=)
|
rs756597852
|
0.00002
|
NM_001127222.2(CACNA1A):c.6526+10C>A
|
rs1425384815
|
0.00002
|
NM_001127222.2(CACNA1A):c.6526+7A>G
|
rs972428713
|
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_001127222.2(CACNA1A):c.7067C>T (p.Thr2356Met)
|
rs780098532
|
0.00002
|
NM_001127222.2(CACNA1A):c.1121G>A (p.Arg374Gln)
|
rs865831227
|
0.00001
|
NM_001127222.2(CACNA1A):c.1141C>T (p.Arg381Trp)
|
rs773593740
|
0.00001
|
NM_001127222.2(CACNA1A):c.1143G>A (p.Arg381=)
|
rs762033223
|
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.117C>T (p.Gly39=)
|
rs374304094
|
0.00001
|
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala)
|
rs745753973
|
0.00001
|
NM_001127222.2(CACNA1A):c.1209C>T (p.Ile403=)
|
rs559232599
|
0.00001
|
NM_001127222.2(CACNA1A):c.1213G>A (p.Ala405Thr)
|
rs121908245
|
0.00001
|
NM_001127222.2(CACNA1A):c.1230C>T (p.Asp410=)
|
rs751952553
|
0.00001
|
NM_001127222.2(CACNA1A):c.1231G>A (p.Gly411Arg)
|
rs1448345243
|
0.00001
|
NM_001127222.2(CACNA1A):c.1256-18A>G
|
rs1369047772
|
0.00001
|
NM_001127222.2(CACNA1A):c.1257T>C (p.Ala419=)
|
rs1555766602
|
0.00001
|
NM_001127222.2(CACNA1A):c.1261C>T (p.Arg421Trp)
|
rs1208991974
|
0.00001
|
NM_001127222.2(CACNA1A):c.1291G>A (p.Asp431Asn)
|
rs1600346973
|
0.00001
|
NM_001127222.2(CACNA1A):c.1303C>T (p.Pro435Ser)
|
rs1426869372
|
0.00001
|
NM_001127222.2(CACNA1A):c.130G>A (p.Ala44Thr)
|
rs201398669
|
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.1333A>G (p.Ile445Val)
|
rs1188726884
|
0.00001
|
NM_001127222.2(CACNA1A):c.1346-7C>A
|
rs754052378
|
0.00001
|
NM_001127222.2(CACNA1A):c.135A>G (p.Gln45=)
|
rs764813421
|
0.00001
|
NM_001127222.2(CACNA1A):c.1377T>G (p.Ser459Arg)
|
rs769335170
|
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.1441C>T (p.Arg481Cys)
|
rs377011125
|
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.1556-12T>C
|
rs749749321
|
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.1611G>T (p.Met537Ile)
|
rs752572390
|
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.1644T>C (p.Ser548=)
|
rs772855559
|
0.00001
|
NM_001127222.2(CACNA1A):c.1647C>T (p.Ser549=)
|
rs866879440
|
0.00001
|
NM_001127222.2(CACNA1A):c.1668+10C>T
|
rs545368463
|
0.00001
|
NM_001127222.2(CACNA1A):c.1668+11T>C
|
rs200980685
|
0.00001
|
NM_001127222.2(CACNA1A):c.1668+19A>G
|
rs771087905
|
0.00001
|
NM_001127222.2(CACNA1A):c.1669-17C>T
|
rs755846938
|
0.00001
|
NM_001127222.2(CACNA1A):c.1676T>C (p.Ile559Thr)
|
rs767207007
|
0.00001
|
NM_001127222.2(CACNA1A):c.1692G>A (p.Glu564=)
|
rs371827685
|
0.00001
|
NM_001127222.2(CACNA1A):c.1696A>C (p.Ile566Leu)
|
rs1568519066
|
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.1804C>T (p.Leu602=)
|
rs16014
|
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.1848G>A (p.Leu616=)
|
rs1164864162
|
0.00001
|
NM_001127222.2(CACNA1A):c.1875C>T (p.Val625=)
|
rs774629539
|
0.00001
|
NM_001127222.2(CACNA1A):c.1882G>A (p.Ala628Thr)
|
rs577006493
|
0.00001
|
NM_001127222.2(CACNA1A):c.1899A>G (p.Gln633=)
|
rs769887736
|
0.00001
|
NM_001127222.2(CACNA1A):c.1906G>A (p.Gly636Ser)
|
rs943419160
|
0.00001
|
NM_001127222.2(CACNA1A):c.1913+8C>T
|
rs770833278
|
0.00001
|
NM_001127222.2(CACNA1A):c.1950C>T (p.Phe650=)
|
rs747730451
|
0.00001
|
NM_001127222.2(CACNA1A):c.1977G>A (p.Thr659=)
|
rs371952989
|
0.00001
|
NM_001127222.2(CACNA1A):c.1989C>T (p.Ile663=)
|
rs764413479
|
0.00001
|
NM_001127222.2(CACNA1A):c.2022C>T (p.Tyr674=)
|
rs940460024
|
0.00001
|
NM_001127222.2(CACNA1A):c.2025C>T (p.Asp675=)
|
rs1170735669
|
0.00001
|
NM_001127222.2(CACNA1A):c.2043G>A (p.Gly681=)
|
rs750324942
|
0.00001
|
NM_001127222.2(CACNA1A):c.2052G>A (p.Gln684=)
|
rs774083779
|
0.00001
|
NM_001127222.2(CACNA1A):c.2055C>T (p.Gly685=)
|
rs768332997
|
0.00001
|
NM_001127222.2(CACNA1A):c.2062G>T (p.Val688Leu)
|
rs762530372
|
0.00001
|
NM_001127222.2(CACNA1A):c.2072T>C (p.Ile691Thr)
|
rs775081414
|
0.00001
|
NM_001127222.2(CACNA1A):c.2105-2A>G
|
rs906086634
|
0.00001
|
NM_001127222.2(CACNA1A):c.210C>T (p.Asn70=)
|
rs1417918847
|
0.00001
|
NM_001127222.2(CACNA1A):c.2124C>T (p.Phe708=)
|
rs762654239
|
0.00001
|
NM_001127222.2(CACNA1A):c.2133C>T (p.Ile711=)
|
rs764839814
|
0.00001
|
NM_001127222.2(CACNA1A):c.2155G>A (p.Ala719Thr)
|
rs1201483107
|
0.00001
|
NM_001127222.2(CACNA1A):c.2172+8C>T
|
rs200277127
|
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.2199G>A (p.Ala733=)
|
rs1463843521
|
0.00001
|
NM_001127222.2(CACNA1A):c.2258C>T (p.Ala753Val)
|
rs200355966
|
0.00001
|
NM_001127222.2(CACNA1A):c.2265C>T (p.Asn755=)
|
rs1382705855
|
0.00001
|
NM_001127222.2(CACNA1A):c.2281A>G (p.Lys761Glu)
|
rs1196111017
|
0.00001
|
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys)
|
rs2057741441
|
0.00001
|
NM_001127222.2(CACNA1A):c.2289A>G (p.Gln763=)
|
rs771044445
|
0.00001
|
NM_001127222.2(CACNA1A):c.2310C>G (p.Ala770=)
|
rs1375569922
|
0.00001
|
NM_001127222.2(CACNA1A):c.2340G>A (p.Glu780=)
|
rs562717028
|
0.00001
|
NM_001127222.2(CACNA1A):c.2349G>A (p.Lys783=)
|
rs1187115036
|
0.00001
|
NM_001127222.2(CACNA1A):c.2358G>A (p.Leu786=)
|
rs749958045
|
0.00001
|
NM_001127222.2(CACNA1A):c.2364C>T (p.Ala788=)
|
rs766996486
|
0.00001
|
NM_001127222.2(CACNA1A):c.2391G>A (p.Met797Ile)
|
rs370746809
|
0.00001
|
NM_001127222.2(CACNA1A):c.2397G>A (p.Pro799=)
|
rs996453280
|
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.2491C>T (p.Arg831Cys)
|
rs1464680327
|
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.255C>T (p.Asn85=)
|
rs1285665891
|
0.00001
|
NM_001127222.2(CACNA1A):c.2571C>T (p.Phe857=)
|
rs1222215404
|
0.00001
|
NM_001127222.2(CACNA1A):c.2606G>A (p.Arg869Gln)
|
rs1057518589
|
0.00001
|
NM_001127222.2(CACNA1A):c.2612C>A (p.Pro871His)
|
rs1178583020
|
0.00001
|
NM_001127222.2(CACNA1A):c.2620T>G (p.Ser874Ala)
|
rs751675055
|
0.00001
|
NM_001127222.2(CACNA1A):c.2622G>A (p.Ser874=)
|
rs1334069330
|
0.00001
|
NM_001127222.2(CACNA1A):c.2624C>T (p.Ala875Val)
|
rs1309338929
|
0.00001
|
NM_001127222.2(CACNA1A):c.2638C>T (p.Arg880Trp)
|
rs1408152396
|
0.00001
|
NM_001127222.2(CACNA1A):c.2641A>C (p.Arg881=)
|
rs1361559490
|
0.00001
|
NM_001127222.2(CACNA1A):c.2651C>T (p.Ala884Val)
|
rs746582791
|
0.00001
|
NM_001127222.2(CACNA1A):c.2655A>G (p.Gly885=)
|
rs1057524746
|
0.00001
|
NM_001127222.2(CACNA1A):c.2658C>T (p.Ser886=)
|
rs1462953587
|
0.00001
|
NM_001127222.2(CACNA1A):c.2669A>G (p.Glu890Gly)
|
rs2057731758
|
0.00001
|
NM_001127222.2(CACNA1A):c.2672T>G (p.Leu891Arg)
|
rs1171365113
|
0.00001
|
NM_001127222.2(CACNA1A):c.2679G>T (p.Arg893=)
|
rs2057731363
|
0.00001
|
NM_001127222.2(CACNA1A):c.2696G>A (p.Arg899His)
|
rs1290079536
|
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.2717G>A (p.Arg906Gln)
|
rs776495488
|
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.2781C>T (p.Asp927=)
|
rs1216508972
|
0.00001
|
NM_001127222.2(CACNA1A):c.2797G>A (p.Val933Met)
|
rs767187794
|
0.00001
|
NM_001127222.2(CACNA1A):c.2799G>A (p.Val933=)
|
rs761397410
|
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.2818A>G (p.Arg940Gly)
|
rs778220824
|
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.2842C>T (p.Arg948Cys)
|
rs16978975
|
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.2891C>A (p.Pro964His)
|
rs1161926847
|
0.00001
|
NM_001127222.2(CACNA1A):c.2899G>A (p.Glu967Lys)
|
rs1555755929
|
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.294-17C>T
|
rs752007612
|
0.00001
|
NM_001127222.2(CACNA1A):c.294-4A>G
|
rs1400044284
|
0.00001
|
NM_001127222.2(CACNA1A):c.2959C>G (p.Arg987Gly)
|
rs1489702072
|
0.00001
|
NM_001127222.2(CACNA1A):c.2971G>A (p.Gly991Ser)
|
rs2057722310
|
0.00001
|
NM_001127222.2(CACNA1A):c.2972G>T (p.Gly991Val)
|
rs2057722221
|
0.00001
|
NM_001127222.2(CACNA1A):c.2979C>T (p.Gly993=)
|
rs1347561457
|
0.00001
|
NM_001127222.2(CACNA1A):c.2992G>A (p.Gly998Arg)
|
rs781006387
|
0.00001
|
NM_001127222.2(CACNA1A):c.3002G>C (p.Arg1001Pro)
|
rs1424294725
|
0.00001
|
NM_001127222.2(CACNA1A):c.3004A>G (p.Arg1002Gly)
|
rs1175036875
|
0.00001
|
NM_001127222.2(CACNA1A):c.3015C>T (p.His1005=)
|
rs1226532363
|
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.3149T>C (p.Ile1050Thr)
|
rs2057414053
|
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.3234G>A (p.Ser1078=)
|
rs1331367408
|
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.3246C>T (p.His1082=)
|
rs556541935
|
0.00001
|
NM_001127222.2(CACNA1A):c.3247G>A (p.Gly1083Ser)
|
rs753077104
|
0.00001
|
NM_001127222.2(CACNA1A):c.3261C>T (p.His1087=)
|
rs776799566
|
0.00001
|
NM_001127222.2(CACNA1A):c.3262G>A (p.Ala1088Thr)
|
rs371820430
|
0.00001
|
NM_001127222.2(CACNA1A):c.3282A>G (p.Pro1094=)
|
rs2057410670
|
0.00001
|
NM_001127222.2(CACNA1A):c.3303C>T (p.Thr1101=)
|
rs748999071
|
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.3334A>C (p.Met1112Leu)
|
rs755317765
|
0.00001
|
NM_001127222.2(CACNA1A):c.3347C>T (p.Pro1116Leu)
|
rs760744104
|
0.00001
|
NM_001127222.2(CACNA1A):c.3357C>T (p.Ala1119=)
|
rs372364153
|
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.3383C>T (p.Pro1128Leu)
|
rs754208553
|
0.00001
|
NM_001127222.2(CACNA1A):c.339C>T (p.Ile113=)
|
rs185952971
|
0.00001
|
NM_001127222.2(CACNA1A):c.3402C>T (p.Pro1134=)
|
rs767675502
|
0.00001
|
NM_001127222.2(CACNA1A):c.3429C>G (p.Ser1143Arg)
|
rs746195332
|
0.00001
|
NM_001127222.2(CACNA1A):c.3435C>T (p.Ile1145=)
|
rs781300443
|
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.3481A>G (p.Arg1161Gly)
|
rs760265407
|
0.00001
|
NM_001127222.2(CACNA1A):c.3497C>T (p.Thr1166Ile)
|
rs746222908
|
0.00001
|
NM_001127222.2(CACNA1A):c.3501A>G (p.Thr1167=)
|
rs1467183042
|
0.00001
|
NM_001127222.2(CACNA1A):c.3515C>G (p.Pro1172Arg)
|
rs16028
|
0.00001
|
NM_001127222.2(CACNA1A):c.3520T>G (p.Cys1174Gly)
|
rs996509493
|
0.00001
|
NM_001127222.2(CACNA1A):c.3542C>G (p.Thr1181Ser)
|
rs1250790986
|
0.00001
|
NM_001127222.2(CACNA1A):c.3543C>T (p.Thr1181=)
|
rs773844470
|
0.00001
|
NM_001127222.2(CACNA1A):c.3553+7C>G
|
rs878865349
|
0.00001
|
NM_001127222.2(CACNA1A):c.3629G>A (p.Gly1210Glu)
|
rs763558455
|
0.00001
|
NM_001127222.2(CACNA1A):c.3636C>T (p.Asp1212=)
|
rs757943547
|
0.00001
|
NM_001127222.2(CACNA1A):c.3639C>T (p.Gly1213=)
|
rs976780203
|
0.00001
|
NM_001127222.2(CACNA1A):c.3650T>A (p.Met1217Lys)
|
rs761983146
|
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.3692+20A>G
|
rs934863410
|
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.3724C>T (p.Leu1242=)
|
rs1275961783
|
0.00001
|
NM_001127222.2(CACNA1A):c.3750C>T (p.Leu1250=)
|
rs1238454656
|
0.00001
|
NM_001127222.2(CACNA1A):c.3778C>T (p.Leu1260=)
|
rs944942986
|
0.00001
|
NM_001127222.2(CACNA1A):c.3783C>T (p.Ala1261=)
|
rs1057523661
|
0.00001
|
NM_001127222.2(CACNA1A):c.37G>A (p.Gly13Arg)
|
rs1202097056
|
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.3814C>T (p.Arg1272Trp)
|
rs372970430
|
0.00001
|
NM_001127222.2(CACNA1A):c.3823-15T>A
|
rs1389346234
|
0.00001
|
NM_001127222.2(CACNA1A):c.3830G>A (p.Arg1277Gln)
|
rs372344357
|
0.00001
|
NM_001127222.2(CACNA1A):c.3882+10G>C
|
rs183712582
|
0.00001
|
NM_001127222.2(CACNA1A):c.3882+13T>C
|
rs779233415
|
0.00001
|
NM_001127222.2(CACNA1A):c.399+20A>G
|
rs1192777400
|
0.00001
|
NM_001127222.2(CACNA1A):c.399+3G>A
|
rs1275496281
|
0.00001
|
NM_001127222.2(CACNA1A):c.400-19T>C
|
rs2060943767
|
0.00001
|
NM_001127222.2(CACNA1A):c.4047G>T (p.Val1349=)
|
rs1265632174
|
0.00001
|
NM_001127222.2(CACNA1A):c.4256A>G (p.Lys1419Arg)
|
rs574194354
|
0.00001
|
NM_001127222.2(CACNA1A):c.4263C>T (p.Leu1421=)
|
rs1173445536
|
0.00001
|
NM_001127222.2(CACNA1A):c.4293A>G (p.Arg1431=)
|
rs913405402
|
0.00001
|
NM_001127222.2(CACNA1A):c.4302G>A (p.Glu1434=)
|
rs1052611146
|
0.00001
|
NM_001127222.2(CACNA1A):c.4389-15C>T
|
rs1356998435
|
0.00001
|
NM_001127222.2(CACNA1A):c.4389-7C>T
|
rs1417689500
|
0.00001
|
NM_001127222.2(CACNA1A):c.438C>T (p.Phe146=)
|
rs755662617
|
0.00001
|
NM_001127222.2(CACNA1A):c.4403C>T (p.Ser1468Leu)
|
rs1211492911
|
0.00001
|
NM_001127222.2(CACNA1A):c.4462A>T (p.Ile1488Phe)
|
rs2056601798
|
0.00001
|
NM_001127222.2(CACNA1A):c.4467C>T (p.Phe1489=)
|
rs1600186663
|
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.4590+12A>G
|
rs760554391
|
0.00001
|
NM_001127222.2(CACNA1A):c.4590+13A>G
|
rs1190654202
|
0.00001
|
NM_001127222.2(CACNA1A):c.4601T>C (p.Ile1534Thr)
|
rs1004488897
|
0.00001
|
NM_001127222.2(CACNA1A):c.4618G>A (p.Ala1540Thr)
|
rs761579946
|
0.00001
|
NM_001127222.2(CACNA1A):c.4646A>G (p.Gln1549Arg)
|
rs759263620
|
0.00001
|
NM_001127222.2(CACNA1A):c.4659C>T (p.Ser1553=)
|
rs966897092
|
0.00001
|
NM_001127222.2(CACNA1A):c.4668C>T (p.Tyr1556=)
|
rs370203027
|
0.00001
|
NM_001127222.2(CACNA1A):c.4670G>A (p.Arg1557His)
|
rs755172189
|
0.00001
|
NM_001127222.2(CACNA1A):c.4693C>T (p.Pro1565Ser)
|
rs1353824164
|
0.00001
|
NM_001127222.2(CACNA1A):c.4707C>T (p.Tyr1569=)
|
rs201475701
|
0.00001
|
NM_001127222.2(CACNA1A):c.4725C>T (p.Ile1575=)
|
rs751308492
|
0.00001
|
NM_001127222.2(CACNA1A):c.4755+12A>C
|
rs1057522757
|
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.4821C>A (p.Leu1607=)
|
rs2056444098
|
0.00001
|
NM_001127222.2(CACNA1A):c.4824C>T (p.Phe1608=)
|
rs1176237039
|
0.00001
|
NM_001127222.2(CACNA1A):c.4850T>C (p.Met1617Thr)
|
rs1469756019
|
0.00001
|
NM_001127222.2(CACNA1A):c.4866+6T>A
|
rs757178835
|
0.00001
|
NM_001127222.2(CACNA1A):c.4876C>T (p.Arg1626Cys)
|
rs747020168
|
0.00001
|
NM_001127222.2(CACNA1A):c.4877G>A (p.Arg1626His)
|
rs777769751
|
0.00001
|
NM_001127222.2(CACNA1A):c.4931T>C (p.Ile1644Thr)
|
rs2056194193
|
0.00001
|
NM_001127222.2(CACNA1A):c.4935C>T (p.Leu1645=)
|
rs1401183344
|
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.5033G>A (p.Arg1678His)
|
rs2055849544
|
0.00001
|
NM_001127222.2(CACNA1A):c.5067+10C>T
|
rs549805937
|
0.00001
|
NM_001127222.2(CACNA1A):c.5088G>A (p.Leu1696=)
|
rs767743815
|
0.00001
|
NM_001127222.2(CACNA1A):c.5094C>T (p.Ile1698=)
|
rs201844207
|
0.00001
|
NM_001127222.2(CACNA1A):c.5134-11C>T
|
rs41276882
|
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.5174G>A (p.Ser1725Asn)
|
rs766254024
|
0.00001
|
NM_001127222.2(CACNA1A):c.5193A>C (p.Gln1731His)
|
rs773031818
|
0.00001
|
NM_001127222.2(CACNA1A):c.5200G>A (p.Glu1734Lys)
|
rs1064795744
|
0.00001
|
NM_001127222.2(CACNA1A):c.5249+8G>C
|
rs747305291
|
0.00001
|
NM_001127222.2(CACNA1A):c.5250-8G>C
|
rs1555737120
|
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.5313T>C (p.Asp1771=)
|
rs2055674093
|
0.00001
|
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=)
|
rs886043622
|
0.00001
|
NM_001127222.2(CACNA1A):c.531G>T (p.Val177=)
|
rs1294737592
|
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.539+11C>T
|
rs115447563
|
0.00001
|
NM_001127222.2(CACNA1A):c.539+8G>T
|
rs372925573
|
0.00001
|
NM_001127222.2(CACNA1A):c.540-9T>G
|
rs1172688314
|
0.00001
|
NM_001127222.2(CACNA1A):c.5400+7C>T
|
rs1046598864
|
0.00001
|
NM_001127222.2(CACNA1A):c.5400+8T>C
|
rs772508313
|
0.00001
|
NM_001127222.2(CACNA1A):c.5418C>T (p.Val1806=)
|
rs561301072
|
0.00001
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
NM_001127222.2(CACNA1A):c.5520C>T (p.Pro1840=)
|
rs754521399
|
0.00001
|
NM_001127222.2(CACNA1A):c.5528+16G>A
|
rs775890060
|
0.00001
|
NM_001127222.2(CACNA1A):c.5528+6A>G
|
rs762224302
|
0.00001
|
NM_001127222.2(CACNA1A):c.5529-1213C>G
|
rs1186831509
|
0.00001
|
NM_001127222.2(CACNA1A):c.5529-1268C>T
|
rs765557914
|
0.00001
|
NM_001127222.2(CACNA1A):c.5626-3T>C
|
rs2055372579
|
0.00001
|
NM_001127222.2(CACNA1A):c.5626-6C>G
|
rs769606952
|
0.00001
|
NM_001127222.2(CACNA1A):c.5635C>T (p.Arg1879Trp)
|
rs746460335
|
0.00001
|
NM_001127222.2(CACNA1A):c.5706A>G (p.Thr1902=)
|
rs1434572084
|
0.00001
|
NM_001127222.2(CACNA1A):c.5731+19C>T
|
rs1259224644
|
0.00001
|
NM_001127222.2(CACNA1A):c.5732-8C>T
|
rs1057521521
|
0.00001
|
NM_001127222.2(CACNA1A):c.5734G>A (p.Gly1912Arg)
|
rs966699696
|
0.00001
|
NM_001127222.2(CACNA1A):c.573A>G (p.Leu191=)
|
rs1229065392
|
0.00001
|
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)
|
rs1057518779
|
0.00001
|
NM_001127222.2(CACNA1A):c.5760T>C (p.Ala1920=)
|
rs760343725
|
0.00001
|
NM_001127222.2(CACNA1A):c.5768G>A (p.Arg1923Gln)
|
rs771636070
|
0.00001
|
NM_001127222.2(CACNA1A):c.5784G>A (p.Ala1928=)
|
rs770231014
|
0.00001
|
NM_001127222.2(CACNA1A):c.578C>T (p.Thr193Met)
|
rs1365721398
|
0.00001
|
NM_001127222.2(CACNA1A):c.5795A>G (p.Asn1932Ser)
|
rs1205866071
|
0.00001
|
NM_001127222.2(CACNA1A):c.5801C>G (p.Ser1934Cys)
|
rs375365071
|
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.5840-15dup
|
rs1428959852
|
0.00001
|
NM_001127222.2(CACNA1A):c.5840-16G>A
|
rs771333825
|
0.00001
|
NM_001127222.2(CACNA1A):c.5843C>T (p.Thr1948Met)
|
rs748279762
|
0.00001
|
NM_001127222.2(CACNA1A):c.5854G>A (p.Val1952Met)
|
rs749251058
|
0.00001
|
NM_001127222.2(CACNA1A):c.5871A>G (p.Ala1957=)
|
rs751132291
|
0.00001
|
NM_001127222.2(CACNA1A):c.5937G>A (p.Glu1979=)
|
rs768860392
|
0.00001
|
NM_001127222.2(CACNA1A):c.5966G>A (p.Arg1989His)
|
rs1178337230
|
0.00001
|
NM_001127222.2(CACNA1A):c.5999G>C (p.Gly2000Ala)
|
rs1303685302
|
0.00001
|
NM_001127222.2(CACNA1A):c.6005G>A (p.Gly2002Asp)
|
rs1402384624
|
0.00001
|
NM_001127222.2(CACNA1A):c.6005G>C (p.Gly2002Ala)
|
rs1402384624
|
0.00001
|
NM_001127222.2(CACNA1A):c.6012C>T (p.Asn2004=)
|
rs764448299
|
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.6050+9C>T
|
rs1401679003
|
0.00001
|
NM_001127222.2(CACNA1A):c.6050T>C (p.Leu2017Pro)
|
rs774375692
|
0.00001
|
NM_001127222.2(CACNA1A):c.6051-11C>A
|
rs759586410
|
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.6069C>T (p.Gly2023=)
|
rs773076084
|
0.00001
|
NM_001127222.2(CACNA1A):c.6096C>A (p.Thr2032=)
|
rs2054850952
|
0.00001
|
NM_001127222.2(CACNA1A):c.6128G>A (p.Gly2043Asp)
|
rs765421252
|
0.00001
|
NM_001127222.2(CACNA1A):c.613C>T (p.Leu205=)
|
rs2059326322
|
0.00001
|
NM_001127222.2(CACNA1A):c.6141G>A (p.Pro2047=)
|
rs760682283
|
0.00001
|
NM_001127222.2(CACNA1A):c.6162C>A (p.Asp2054Glu)
|
rs774164327
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-18T>C
|
rs751366127
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-4G>A
|
rs769551839
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-5C>T
|
rs368180309
|
0.00001
|
NM_001127222.2(CACNA1A):c.6190-8C>G
|
rs762766173
|
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.6241T>C (p.Tyr2081His)
|
rs1174830824
|
0.00001
|
NM_001127222.2(CACNA1A):c.6262G>A (p.Gly2088Ser)
|
rs1259126760
|
0.00001
|
NM_001127222.2(CACNA1A):c.6281C>T (p.Pro2094Leu)
|
rs769128653
|
0.00001
|
NM_001127222.2(CACNA1A):c.6295G>A (p.Glu2099Lys)
|
rs757385012
|
0.00001
|
NM_001127222.2(CACNA1A):c.6303+14C>T
|
rs777901156
|
0.00001
|
NM_001127222.2(CACNA1A):c.6304-3C>T
|
rs1354563230
|
0.00001
|
NM_001127222.2(CACNA1A):c.6313G>A (p.Gly2105Ser)
|
rs1376625416
|
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.6340-9C>T
|
rs1297370748
|
0.00001
|
NM_001127222.2(CACNA1A):c.6360C>T (p.Pro2120=)
|
rs1442058627
|
0.00001
|
NM_001127222.2(CACNA1A):c.636A>G (p.Leu212=)
|
rs765072424
|
0.00001
|
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=)
|
rs760994682
|
0.00001
|
NM_001127222.2(CACNA1A):c.6401G>A (p.Arg2134His)
|
rs749172043
|
0.00001
|
NM_001127222.2(CACNA1A):c.6431C>T (p.Pro2144Leu)
|
rs750077868
|
0.00001
|
NM_001127222.2(CACNA1A):c.6435C>T (p.Pro2145=)
|
rs1456597171
|
0.00001
|
NM_001127222.2(CACNA1A):c.6436G>A (p.Glu2146Lys)
|
rs371984902
|
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.6456C>A (p.His2152Gln)
|
rs759949928
|
0.00001
|
NM_001127222.2(CACNA1A):c.6458A>G (p.Gln2153Arg)
|
rs1242460645
|
0.00001
|
NM_001127222.2(CACNA1A):c.6463C>T (p.Arg2155Cys)
|
rs766661019
|
0.00001
|
NM_001127222.2(CACNA1A):c.6469G>A (p.Asp2157Asn)
|
rs1042634748
|
0.00001
|
NM_001127222.2(CACNA1A):c.6481C>T (p.Arg2161Cys)
|
rs1198604369
|
0.00001
|
NM_001127222.2(CACNA1A):c.6493C>T (p.Arg2165Cys)
|
rs746582303
|
0.00001
|
NM_001127222.2(CACNA1A):c.6501G>T (p.Leu2167=)
|
rs781746273
|
0.00001
|
NM_001127222.2(CACNA1A):c.6526+6C>T
|
rs1366998583
|
0.00001
|
NM_001127222.2(CACNA1A):c.6527-5C>T
|
rs1193230442
|
0.00001
|
NM_001127222.2(CACNA1A):c.6527-8C>T
|
rs1265326582
|
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.6582G>A (p.Glu2194=)
|
rs777446478
|
0.00001
|
NM_001127222.2(CACNA1A):c.6588C>A (p.Asp2196Glu)
|
rs1168700437
|
0.00001
|
NM_001127222.2(CACNA1A):c.6595C>T (p.Arg2199Trp)
|
rs1477386827
|
0.00001
|
NM_001127222.2(CACNA1A):c.6596G>A (p.Arg2199Gln)
|
rs1326871701
|
0.00001
|
NM_001127222.2(CACNA1A):c.6599G>A (p.Gly2200Asp)
|
rs1163864338
|
0.00001
|
NM_001127222.2(CACNA1A):c.6606C>T (p.Pro2202=)
|
rs1219161255
|
0.00001
|
NM_001127222.2(CACNA1A):c.6608A>G (p.Lys2203Arg)
|
rs1057521770
|
0.00001
|
NM_001127222.2(CACNA1A):c.6617A>G (p.Lys2206Arg)
|
rs1444251671
|
0.00001
|
NM_001127222.2(CACNA1A):c.6629A>G (p.His2210Arg)
|
rs1002423867
|
0.00001
|
NM_001127222.2(CACNA1A):c.6648C>T (p.His2216=)
|
rs1281394713
|
0.00001
|
NM_001127222.2(CACNA1A):c.6667C>T (p.Pro2223Ser)
|
rs768221184
|
0.00001
|
NM_001127222.2(CACNA1A):c.6679C>T (p.Arg2227Cys)
|
rs757715357
|
0.00001
|
NM_001127222.2(CACNA1A):c.6685G>A (p.Ala2229Thr)
|
rs2054683125
|
0.00001
|
NM_001127222.2(CACNA1A):c.6696G>A (p.Arg2232=)
|
rs1392174465
|
0.00001
|
NM_001127222.2(CACNA1A):c.6698C>T (p.Pro2233Leu)
|
rs1317740666
|
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.6706G>A (p.Gly2236Ser)
|
rs752808137
|
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.714T>C (p.Leu238=)
|
rs1451920573
|
0.00001
|
NM_001127222.2(CACNA1A):c.7197G>C (p.Glu2399Asp)
|
rs973900517
|
0.00001
|
NM_001127222.2(CACNA1A):c.726C>T (p.Ile242=)
|
rs1169274623
|
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.74T>G (p.Val25Gly)
|
rs565157998
|
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.774A>G (p.Glu258=)
|
rs770324320
|
0.00001
|
NM_001127222.2(CACNA1A):c.784+11G>A
|
rs757532272
|
0.00001
|
NM_001127222.2(CACNA1A):c.786T>C (p.Asp262=)
|
rs944129354
|
0.00001
|
NM_001127222.2(CACNA1A):c.78C>G (p.Gly26=)
|
rs748434655
|
0.00001
|
NM_001127222.2(CACNA1A):c.7C>T (p.Arg3Cys)
|
rs1326606155
|
0.00001
|
NM_001127222.2(CACNA1A):c.821C>T (p.Thr274Ile)
|
rs1250942113
|
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
|
NM_001127222.2(CACNA1A):c.867C>T (p.Pro289=)
|
rs777059446
|
0.00001
|
NM_001127222.2(CACNA1A):c.885C>T (p.Asn295=)
|
rs981058428
|
0.00001
|
NM_001127222.2(CACNA1A):c.978+10G>T
|
rs1015293932
|
0.00001
|
GRCh37/hg19 19p13.2(chr19:13363805-13363915)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13374979-13388396)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13427805-13682946)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13512340-13548135)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13561015-13604751)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13563690-13566026)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:13563690-13617038)x1
|
|
|
NC_000019.10:g.(13255260_13259564)_(13259701_?)del
|
|
|
NC_000019.10:g.(?_13259544)_(13259721_?)del
|
|
|
NC_000019.10:g.(?_13298534)_(13300666_?)del
|
|
|
NC_000019.10:g.(?_13300530)_(13300676_?)del
|
|
|
NC_000019.10:g.(?_13359586)_(13359819_?)del
|
|
|
NC_000019.10:g.13198071A>T
|
|
|
NC_000019.10:g.13506621del
|
rs569789898
|
|
NC_000019.10:g.13506697C>A
|
rs572550834
|
|
NC_000019.10:g.13599780G>A
|
rs1408235628
|
|
NC_000019.10:g.13599842C>A
|
|
|
NC_000019.10:g.13599844G>A
|
|
|
NC_000019.10:g.13599907C>T
|
|
|
NC_000019.9:g.(13470614_13476130)_(13566027_13616745)dup
|
|
|
NC_000019.9:g.(?_13316256)_(13618274_?)dup
|
|
|
NC_000019.9:g.(?_13318860)_(13321486_?)dup
|
|
|
NC_000019.9:g.(?_13318860)_(13325442_?)del
|
|
|
NC_000019.9:g.(?_13318860)_(13325442_?)dup
|
|
|
NC_000019.9:g.(?_13318860)_(13363935_?)dup
|
|
|
NC_000019.9:g.(?_13335461)_(13342694_?)del
|
|
|
NC_000019.9:g.(?_13338225)_(13342694_?)del
|
|
|
NC_000019.9:g.(?_13339493)_(13341043_?)del
|
|
|
NC_000019.9:g.(?_13339493)_(13373667_?)del
|
|
|
NC_000019.9:g.(?_13340886)_(13342684_?)del
|
|
|
NC_000019.9:g.(?_13342504)_(13342694_?)del
|
|
|
NC_000019.9:g.(?_13355976)_(13356099_?)del
|
|
|
NC_000019.9:g.(?_13363785)_(13363935_?)del
|
|
|
NC_000019.9:g.(?_13368144)_(13368385_?)del
|
|
|
NC_000019.9:g.(?_13370358)_(13373667_?)del
|
|
|
NC_000019.9:g.(?_13372244)_(13373667_?)dup
|
|
|
NC_000019.9:g.(?_13386644)_(13386790_?)del
|
|
|
NC_000019.9:g.(?_13394061)_(13397800_?)del
|
|
|
NC_000019.9:g.(?_13409338)_(13411490_?)del
|
|
|
NC_000019.9:g.(?_13414350)_(13418678_?)del
|
|
|
NC_000019.9:g.(?_13418576)_(13419362_?)del
|
|
|
NC_000019.9:g.(?_13418576)_(13423615_?)del
|
|
|
NC_000019.9:g.(?_13427906)_(13617038_?)del
|
|
|
NC_000019.9:g.(?_13445172)_(13446743_?)del
|
|
|
NC_000019.9:g.(?_13445172)_(13446743_?)dup
|
|
|
NC_000019.9:g.(?_13470400)_(13482613_?)del
|
|
|
NC_000019.9:g.(?_13474954)_(13476240_?)del
|
|
|
NC_000019.9:g.(?_13476111)_(13476303_?)del
|
|
|
NC_000019.9:g.(?_13563670)_(13574132_?)del
|
|
|
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.6659_6660delinsGC (p.His2220Arg)
|
rs1085307607
|
|
NM_001127222.2(CACNA1A):c.*219A>C
|
rs116023034
|
|
NM_001127222.2(CACNA1A):c.*544C>A
|
|
|
NM_001127222.2(CACNA1A):c.*544C>T
|
|
|
NM_001127222.2(CACNA1A):c.-42C>A
|
rs1057518510
|
|
NM_001127222.2(CACNA1A):c.-5_10del (p.Met1_Phe4del)
|
|
|
NM_001127222.2(CACNA1A):c.-76GCG[9]
|
rs16000
|
|
NM_001127222.2(CACNA1A):c.100G>C (p.Gly34Arg)
|
|
|
NM_001127222.2(CACNA1A):c.101G>A (p.Gly34Glu)
|
|
|
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.1083-12A>G
|
|
|
NM_001127222.2(CACNA1A):c.1083-20G>T
|
|
|
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.1088T>C (p.Phe363Ser)
|
|
|
NM_001127222.2(CACNA1A):c.1092C>T (p.Ala364=)
|
|
|
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.110G>A (p.Arg37Gln)
|
|
|
NM_001127222.2(CACNA1A):c.110_125dup (p.Gly43fs)
|
rs2145192572
|
|
NM_001127222.2(CACNA1A):c.1118G>A (p.Arg373Gln)
|
rs2145132803
|
|
NM_001127222.2(CACNA1A):c.1120C>A (p.Arg374=)
|
rs2145132791
|
|
NM_001127222.2(CACNA1A):c.1120C>T (p.Arg374Trp)
|
|
|
NM_001127222.2(CACNA1A):c.1122G>A (p.Arg374=)
|
rs2145132777
|
|
NM_001127222.2(CACNA1A):c.1136T>G (p.Leu379Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1139G>A (p.Arg380Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1144C>T (p.Gln382Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1151A>G (p.Gln384Arg)
|
rs2058521134
|
|
NM_001127222.2(CACNA1A):c.1154T>C (p.Ile385Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1159C>T (p.Arg387Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1165C>T (p.Leu389Phe)
|
rs121908239
|
|
NM_001127222.2(CACNA1A):c.1166T>C (p.Leu389Pro)
|
rs2058520816
|
|
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.1170T>C (p.Asn390=)
|
rs768768744
|
|
NM_001127222.2(CACNA1A):c.1173G>T (p.Gly391=)
|
|
|
NM_001127222.2(CACNA1A):c.1187T>A (p.Ile396Asn)
|
|
|
NM_001127222.2(CACNA1A):c.1187T>C (p.Ile396Thr)
|
rs2058520222
|
|
NM_001127222.2(CACNA1A):c.1191A>C (p.Ser397=)
|
|
|
NM_001127222.2(CACNA1A):c.1197A>T (p.Ala399=)
|
|
|
NM_001127222.2(CACNA1A):c.1197_1198+6del
|
rs2058520032
|
|
NM_001127222.2(CACNA1A):c.1198+15T>C
|
|
|
NM_001127222.2(CACNA1A):c.1198+16C>A
|
rs375761179
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
NM_001127222.2(CACNA1A):c.1198+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.1198+5G>A
|
rs1568544895
|
|
NM_001127222.2(CACNA1A):c.1198+8C>T
|
|
|
NM_001127222.2(CACNA1A):c.1199-12C>T
|
|
|
NM_001127222.2(CACNA1A):c.1199-17G>A
|
|
|
NM_001127222.2(CACNA1A):c.1199-7T>A
|
rs2145126181
|
|
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val)
|
rs1600353470
|
|
NM_001127222.2(CACNA1A):c.1200A>G (p.Glu400=)
|
rs2145126158
|
|
NM_001127222.2(CACNA1A):c.1212C>T (p.Leu404=)
|
rs540579196
|
|
NM_001127222.2(CACNA1A):c.1215C>G (p.Ala405=)
|
rs1346992540
|
|
NM_001127222.2(CACNA1A):c.1215C>T (p.Ala405=)
|
rs1346992540
|
|
NM_001127222.2(CACNA1A):c.1216G>A (p.Glu406Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1218G>A (p.Glu406=)
|
|
|
NM_001127222.2(CACNA1A):c.1220A>C (p.Asp407Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1220A>G (p.Asp407Gly)
|
rs2058491087
|
|
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.1237C>T (p.Gln413Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1242G>T (p.Arg414Ser)
|
rs763099796
|
|
NM_001127222.2(CACNA1A):c.1246C>T (p.Pro416Ser)
|
rs371138043
|
|
NM_001127222.2(CACNA1A):c.1247_1248dup (p.Phe417fs)
|
rs1600353301
|
|
NM_001127222.2(CACNA1A):c.1248del (p.Phe417fs)
|
|
|
NM_001127222.2(CACNA1A):c.124C>T (p.Pro42Ser)
|
rs2145192584
|
|
NM_001127222.2(CACNA1A):c.1255+11T>C
|
|
|
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.1255+9T>C
|
rs759656495
|
|
NM_001127222.2(CACNA1A):c.1256-10A>G
|
|
|
NM_001127222.2(CACNA1A):c.1256-194T>A
|
rs10425460
|
|
NM_001127222.2(CACNA1A):c.1256-194T>G
|
rs10425460
|
|
NM_001127222.2(CACNA1A):c.1256-19C>T
|
rs1473736417
|
|
NM_001127222.2(CACNA1A):c.1256-267TAAA[2]
|
rs142629187
|
|
NM_001127222.2(CACNA1A):c.1256-6T>C
|
|
|
NM_001127222.2(CACNA1A):c.1267A>G (p.Thr423Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1267A>T (p.Thr423Ser)
|
rs1555766588
|
|
NM_001127222.2(CACNA1A):c.126C>G (p.Pro42=)
|
|
|
NM_001127222.2(CACNA1A):c.1271C>A (p.Thr424Asn)
|
|
|
NM_001127222.2(CACNA1A):c.1277A>G (p.Lys426Arg)
|
rs1225290298
|
|
NM_001127222.2(CACNA1A):c.1282A>T (p.Ser428Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
|
|
|
NM_001127222.2(CACNA1A):c.1290A>G (p.Thr430=)
|
rs1057522625
|
|
NM_001127222.2(CACNA1A):c.129G>C (p.Gly43=)
|
rs758153051
|
|
NM_001127222.2(CACNA1A):c.1305C>G (p.Pro435=)
|
rs376451601
|
|
NM_001127222.2(CACNA1A):c.1320T>C (p.Asp440=)
|
rs1555766555
|
|
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1322_1324del (p.Gln441del)
|
|
|
NM_001127222.2(CACNA1A):c.1323G>A (p.Gln441=)
|
|
|
NM_001127222.2(CACNA1A):c.1334_1335dup (p.Ala446Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1337C>T (p.Ala446Val)
|
|
|
NM_001127222.2(CACNA1A):c.1343T>C (p.Val448Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1345+12C>T
|
|
|
NM_001127222.2(CACNA1A):c.1345+15C>T
|
|
|
NM_001127222.2(CACNA1A):c.1345+1G>A
|
rs2145114772
|
|
NM_001127222.2(CACNA1A):c.1345+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.1345G>C (p.Gly449Arg)
|
rs1194605924
|
|
NM_001127222.2(CACNA1A):c.1346-11T>C
|
|
|
NM_001127222.2(CACNA1A):c.1346-3C>T
|
rs867600983
|
|
NM_001127222.2(CACNA1A):c.1346-6T>C
|
rs1352231097
|
|
NM_001127222.2(CACNA1A):c.1346-7C>G
|
|
|
NM_001127222.2(CACNA1A):c.1346-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.1354T>G (p.Phe452Val)
|
|
|
NM_001127222.2(CACNA1A):c.1355del (p.Phe452fs)
|
|
|
NM_001127222.2(CACNA1A):c.1360C>T (p.Arg454Ter)
|
rs886039668
|
|
NM_001127222.2(CACNA1A):c.1362A>T (p.Arg454=)
|
|
|
NM_001127222.2(CACNA1A):c.1370T>A (p.Ile457Asn)
|
rs768383869
|
|
NM_001127222.2(CACNA1A):c.1371T>C (p.Ile457=)
|
rs762652214
|
|
NM_001127222.2(CACNA1A):c.1373A>G (p.Lys458Arg)
|
rs1239292406
|
|
NM_001127222.2(CACNA1A):c.1373A>T (p.Lys458Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1379C>T (p.Ala460Val)
|
|
|
NM_001127222.2(CACNA1A):c.1382A>C (p.Lys461Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1387G>A (p.Glu463Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1395G>C (p.Ser465=)
|
|
|
NM_001127222.2(CACNA1A):c.1395G>T (p.Ser465=)
|
rs374307014
|
|
NM_001127222.2(CACNA1A):c.1396A>G (p.Thr466Ala)
|
rs2145051461
|
|
NM_001127222.2(CACNA1A):c.1397C>T (p.Thr466Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1402T>C (p.Phe468Leu)
|
|
|
NM_001127222.2(CACNA1A):c.140T>A (p.Met47Lys)
|
|
|
NM_001127222.2(CACNA1A):c.1412dup (p.Glu472fs)
|
rs1568528298
|
|
NM_001127222.2(CACNA1A):c.1413G>C (p.Lys471Asn)
|
rs369920914
|
|
NM_001127222.2(CACNA1A):c.1416G>A (p.Glu472=)
|
rs756358571
|
|
NM_001127222.2(CACNA1A):c.1418G>A (p.Arg473Lys)
|
rs1401413921
|
|
NM_001127222.2(CACNA1A):c.1426C>T (p.Arg476Cys)
|
rs2145051308
|
|
NM_001127222.2(CACNA1A):c.1434C>G (p.Tyr478Ter)
|
rs767432719
|
|
NM_001127222.2(CACNA1A):c.1435A>G (p.Ile479Val)
|
|
|
NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs)
|
rs2145051267
|
|
NM_001127222.2(CACNA1A):c.1439del (p.Arg480fs)
|
rs1555762908
|
|
NM_001127222.2(CACNA1A):c.1442G>T (p.Arg481Leu)
|
rs763944721
|
|
NM_001127222.2(CACNA1A):c.1443C>T (p.Arg481=)
|
rs2058145379
|
|
NM_001127222.2(CACNA1A):c.1444A>G (p.Met482Val)
|
rs1555762900
|
|
NM_001127222.2(CACNA1A):c.1448T>A (p.Val483Asp)
|
|
|
NM_001127222.2(CACNA1A):c.1452A>G (p.Lys484=)
|
|
|
NM_001127222.2(CACNA1A):c.1461C>T (p.Ala487=)
|
|
|
NM_001127222.2(CACNA1A):c.1465T>C (p.Tyr489His)
|
rs1568528172
|
|
NM_001127222.2(CACNA1A):c.1469G>A (p.Trp490Ter)
|
rs1568528144
|
|
NM_001127222.2(CACNA1A):c.1470G>A (p.Trp490Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1471A>C (p.Thr491Pro)
|
|
|
NM_001127222.2(CACNA1A):c.1472C>T (p.Thr491Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs)
|
rs1555762869
|
|
NM_001127222.2(CACNA1A):c.1480A>G (p.Ser494Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1486G>A (p.Val496Ile)
|
|
|
NM_001127222.2(CACNA1A):c.1490C>G (p.Ala497Gly)
|
rs1568528100
|
|
NM_001127222.2(CACNA1A):c.1494C>T (p.Leu498=)
|
|
|
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1500G>T (p.Thr500=)
|
rs373192672
|
|
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.1533C>A (p.Pro511=)
|
rs751539123
|
|
NM_001127222.2(CACNA1A):c.1533C>T (p.Pro511=)
|
rs751539123
|
|
NM_001127222.2(CACNA1A):c.1534G>C (p.Glu512Gln)
|
rs375210532
|
|
NM_001127222.2(CACNA1A):c.1538G>A (p.Trp513Ter)
|
rs2058143736
|
|
NM_001127222.2(CACNA1A):c.1547A>C (p.Asp516Ala)
|
|
|
NM_001127222.2(CACNA1A):c.154A>G (p.Met52Val)
|
|
|
NM_001127222.2(CACNA1A):c.1555+10A>C
|
rs794727022
|
|
NM_001127222.2(CACNA1A):c.1555+15G>A
|
|
|
NM_001127222.2(CACNA1A):c.1555+17C>T
|
|
|
NM_001127222.2(CACNA1A):c.1555+2del
|
rs1600313212
|
|
NM_001127222.2(CACNA1A):c.1555+3_1555+6del
|
rs2058143459
|
|
NM_001127222.2(CACNA1A):c.1555+5G>A
|
|
|
NM_001127222.2(CACNA1A):c.1556-12_1556-10del
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>G
|
|
|
NM_001127222.2(CACNA1A):c.1556-4C>T
|
rs1455004036
|
|
NM_001127222.2(CACNA1A):c.1556-5T>C
|
|
|
NM_001127222.2(CACNA1A):c.1556-9C>T
|
|
|
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.1577T>G (p.Leu526Ter)
|
rs2145030772
|
|
NM_001127222.2(CACNA1A):c.157G>A (p.Ala53Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1582C>T (p.Leu528Phe)
|
rs2145030759
|
|
NM_001127222.2(CACNA1A):c.1583T>C (p.Leu528Pro)
|
rs2145030753
|
|
NM_001127222.2(CACNA1A):c.1585T>C (p.Phe529Leu)
|
rs2058058208
|
|
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs)
|
rs1555761603
|
|
NM_001127222.2(CACNA1A):c.1588A>G (p.Met530Val)
|
rs374764234
|
|
NM_001127222.2(CACNA1A):c.1593C>A (p.Ser531=)
|
|
|
NM_001127222.2(CACNA1A):c.159G>A (p.Ala53=)
|
|
|
NM_001127222.2(CACNA1A):c.1602T>C (p.Phe534=)
|
|
|
NM_001127222.2(CACNA1A):c.1605A>T (p.Ile535=)
|
rs1225327012
|
|
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.1617del (p.Thr542fs)
|
|
|
NM_001127222.2(CACNA1A):c.1619T>G (p.Leu540Arg)
|
|
|
NM_001127222.2(CACNA1A):c.1623G>T (p.Gly541=)
|
rs375628894
|
|
NM_001127222.2(CACNA1A):c.1624A>T (p.Thr542Ser)
|
|
|
NM_001127222.2(CACNA1A):c.1625C>T (p.Thr542Met)
|
|
|
NM_001127222.2(CACNA1A):c.1628G>A (p.Arg543Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1628_1643dup (p.Ser549fs)
|
|
|
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)
|
rs1568523843
|
|
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter)
|
rs1427473572
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
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.1663T>C (p.Cys555Arg)
|
rs1600303388
|
|
NM_001127222.2(CACNA1A):c.1668+13G>C
|
|
|
NM_001127222.2(CACNA1A):c.1668+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.1668+7G>A
|
rs567507041
|
|
NM_001127222.2(CACNA1A):c.1668+9T>C
|
rs794727054
|
|
NM_001127222.2(CACNA1A):c.1669-3T>C
|
rs750090822
|
|
NM_001127222.2(CACNA1A):c.1669-7G>A
|
|
|
NM_001127222.2(CACNA1A):c.1669-7G>C
|
|
|
NM_001127222.2(CACNA1A):c.1669G>C (p.Val557Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1669G>T (p.Val557Phe)
|
rs1568519134
|
|
NM_001127222.2(CACNA1A):c.167C>G (p.Ala56Gly)
|
|
|
NM_001127222.2(CACNA1A):c.1680G>C (p.Gly560=)
|
rs1600293357
|
|
NM_001127222.2(CACNA1A):c.1690G>A (p.Glu564Lys)
|
rs1057519099
|
|
NM_001127222.2(CACNA1A):c.1695C>T (p.Val565=)
|
|
|
NM_001127222.2(CACNA1A):c.1697T>G (p.Ile566Ser)
|
|
|
NM_001127222.2(CACNA1A):c.169C>T (p.Arg57Trp)
|
rs1982997781
|
|
NM_001127222.2(CACNA1A):c.1701G>A (p.Trp567Ter)
|
rs1555759066
|
|
NM_001127222.2(CACNA1A):c.1706T>C (p.Val569Ala)
|
rs2145005688
|
|
NM_001127222.2(CACNA1A):c.1708A>G (p.Ile570Val)
|
|
|
NM_001127222.2(CACNA1A):c.170G>A (p.Arg57Gln)
|
|
|
NM_001127222.2(CACNA1A):c.1719C>T (p.Gly573=)
|
|
|
NM_001127222.2(CACNA1A):c.1722A>G (p.Thr574=)
|
rs1555759053
|
|
NM_001127222.2(CACNA1A):c.1724C>T (p.Ser575Phe)
|
|
|
NM_001127222.2(CACNA1A):c.1725C>G (p.Ser575=)
|
|
|
NM_001127222.2(CACNA1A):c.1735A>G (p.Ser579Gly)
|
rs2145005615
|
|
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.1748C>T (p.Ala583Val)
|
rs2145005553
|
|
NM_001127222.2(CACNA1A):c.174_176del (p.Met59del)
|
|
|
NM_001127222.2(CACNA1A):c.175A>G (p.Met59Val)
|
rs1599396496
|
|
NM_001127222.2(CACNA1A):c.1762C>T (p.Arg588Cys)
|
rs1282985383
|
|
NM_001127222.2(CACNA1A):c.1763G>A (p.Arg588His)
|
|
|
NM_001127222.2(CACNA1A):c.1767T>G (p.Ile589Met)
|
|
|
NM_001127222.2(CACNA1A):c.176T>C (p.Met59Thr)
|
|
|
NM_001127222.2(CACNA1A):c.1770C>T (p.Phe590=)
|
rs2145005492
|
|
NM_001127222.2(CACNA1A):c.1779A>G (p.Thr593=)
|
|
|
NM_001127222.2(CACNA1A):c.1781+17C>T
|
|
|
NM_001127222.2(CACNA1A):c.1781+3A>C
|
|
|
NM_001127222.2(CACNA1A):c.1781+7C>T
|
rs202005119
|
|
NM_001127222.2(CACNA1A):c.1781A>C (p.Lys594Thr)
|
rs2145005448
|
|
NM_001127222.2(CACNA1A):c.1781del (p.Lys594fs)
|
rs1600293149
|
|
NM_001127222.2(CACNA1A):c.1782-14G>C
|
rs2145004534
|
|
NM_001127222.2(CACNA1A):c.1782-17C>T
|
|
|
NM_001127222.2(CACNA1A):c.1782-19G>A
|
rs745683117
|
|
NM_001127222.2(CACNA1A):c.1782-37C>T
|
rs200221609
|
|
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)
|
rs2057948502
|
|
NM_001127222.2(CACNA1A):c.1785C>T (p.Tyr595=)
|
rs2057948502
|
|
NM_001127222.2(CACNA1A):c.1797C>T (p.Leu599=)
|
|
|
NM_001127222.2(CACNA1A):c.1805T>C (p.Leu602Pro)
|
rs2057948232
|
|
NM_001127222.2(CACNA1A):c.1805T>G (p.Leu602Arg)
|
|
|
NM_001127222.2(CACNA1A):c.180A>C (p.Ala60=)
|
rs2145192414
|
|
NM_001127222.2(CACNA1A):c.1818C>G (p.Leu606=)
|
|
|
NM_001127222.2(CACNA1A):c.1819C>T (p.Leu607Phe)
|
rs2057947991
|
|
NM_001127222.2(CACNA1A):c.1822A>T (p.Asn608Tyr)
|
rs1476877900
|
|
NM_001127222.2(CACNA1A):c.1825T>A (p.Ser609Thr)
|
|
|
NM_001127222.2(CACNA1A):c.182T>C (p.Leu61Pro)
|
|
|
NM_001127222.2(CACNA1A):c.1830G>A (p.Met610Ile)
|
rs2145004244
|
|
NM_001127222.2(CACNA1A):c.1836dup (p.Ile613fs)
|
|
|
NM_001127222.2(CACNA1A):c.1839C>A (p.Ile613=)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg)
|
rs2057947681
|
|
NM_001127222.2(CACNA1A):c.1844G>A (p.Ser615Asn)
|
rs1600292598
|
|
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
|
|
|
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
|
|
|
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)
|
rs2145004155
|
|
NM_001127222.2(CACNA1A):c.1851G>C (p.Leu617Phe)
|
|
|
NM_001127222.2(CACNA1A):c.1857_1859dup (p.Leu620_Phe621insLeu)
|
|
|
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1866G>A (p.Leu622=)
|
|
|
NM_001127222.2(CACNA1A):c.1870A>G (p.Ile624Val)
|
rs2145004096
|
|
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)
|
rs2145004096
|
|
NM_001127222.2(CACNA1A):c.1876G>A (p.Val626Ile)
|
rs1346036017
|
|
NM_001127222.2(CACNA1A):c.1881C>G (p.Phe627Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)
|
rs1600292507
|
|
NM_001127222.2(CACNA1A):c.1884C>A (p.Ala628=)
|
rs2145003982
|
|
NM_001127222.2(CACNA1A):c.1885C>A (p.Leu629Ile)
|
rs2145003975
|
|
NM_001127222.2(CACNA1A):c.1888T>C (p.Leu630=)
|
|
|
NM_001127222.2(CACNA1A):c.1889T>C (p.Leu630Ser)
|
rs1057521564
|
|
NM_001127222.2(CACNA1A):c.1898A>G (p.Gln633Arg)
|
rs2057946815
|
|
NM_001127222.2(CACNA1A):c.18C>T (p.Asp6=)
|
|
|
NM_001127222.2(CACNA1A):c.1906G>C (p.Gly636Arg)
|
rs943419160
|
|
NM_001127222.2(CACNA1A):c.190C>T (p.Pro64Ser)
|
rs1982996175
|
|
NM_001127222.2(CACNA1A):c.1910G>A (p.Gly637Asp)
|
rs121908246
|
|
NM_001127222.2(CACNA1A):c.1910G>T (p.Gly637Val)
|
rs121908246
|
|
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter)
|
rs1555758842
|
|
NM_001127222.2(CACNA1A):c.1913+10T>A
|
|
|
NM_001127222.2(CACNA1A):c.1913+11C>T
|
|
|
NM_001127222.2(CACNA1A):c.1913+15G>A
|
|
|
NM_001127222.2(CACNA1A):c.1913+16G>T
|
|
|
NM_001127222.2(CACNA1A):c.1913+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.1914-10_2172+10del
|
|
|
NM_001127222.2(CACNA1A):c.1914-15G>C
|
|
|
NM_001127222.2(CACNA1A):c.1914-1G>A
|
rs2145002387
|
|
NM_001127222.2(CACNA1A):c.1914-20T>C
|
|
|
NM_001127222.2(CACNA1A):c.1914-5T>C
|
rs2145002415
|
|
NM_001127222.2(CACNA1A):c.1914-7C>T
|
rs2145002450
|
|
NM_001127222.2(CACNA1A):c.191C>A (p.Pro64His)
|
rs2145192387
|
|
NM_001127222.2(CACNA1A):c.191C>T (p.Pro64Leu)
|
rs2145192387
|
|
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs)
|
rs1568518139
|
|
NM_001127222.2(CACNA1A):c.1923C>A (p.Phe641Leu)
|
|
|
NM_001127222.2(CACNA1A):c.1923C>T (p.Phe641=)
|
|
|
NM_001127222.2(CACNA1A):c.1924G>A (p.Asp642Asn)
|
rs2057938033
|
|
NM_001127222.2(CACNA1A):c.1931G>A (p.Gly644Glu)
|
|
|
NM_001127222.2(CACNA1A):c.1940C>T (p.Pro647Leu)
|
rs2057937902
|
|
NM_001127222.2(CACNA1A):c.1946del (p.Asn649fs)
|
rs1568518113
|
|
NM_001127222.2(CACNA1A):c.1951G>A (p.Asp651Asn)
|
|
|
NM_001127222.2(CACNA1A):c.1951G>T (p.Asp651Tyr)
|
rs1244229103
|
|
NM_001127222.2(CACNA1A):c.1956T>A (p.Thr652=)
|
|
|
NM_001127222.2(CACNA1A):c.1965A>T (p.Ala655=)
|
rs1600291631
|
|
NM_001127222.2(CACNA1A):c.1969A>G (p.Ile657Val)
|
rs375173544
|
|
NM_001127222.2(CACNA1A):c.1971A>T (p.Ile657=)
|
rs2145002214
|
|
NM_001127222.2(CACNA1A):c.1973T>A (p.Met658Lys)
|
rs2145002206
|
|
NM_001127222.2(CACNA1A):c.1975A>G (p.Thr659Ala)
|
rs2145002197
|
|
NM_001127222.2(CACNA1A):c.1977G>T (p.Thr659=)
|
|
|
NM_001127222.2(CACNA1A):c.1978G>A (p.Val660Met)
|
rs2145002166
|
|
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+14C>G
|
|
|
NM_001127222.2(CACNA1A):c.1986+16G>C
|
|
|
NM_001127222.2(CACNA1A):c.1986+19C>A
|
rs2145001986
|
|
NM_001127222.2(CACNA1A):c.1986+6G>A
|
rs1791823785
|
|
NM_001127222.2(CACNA1A):c.1987-12C>A
|
|
|
NM_001127222.2(CACNA1A):c.1987-16C>A
|
rs1057523685
|
|
NM_001127222.2(CACNA1A):c.1987-17T>C
|
rs2144981058
|
|
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.199G>A (p.Val67Ile)
|
|
|
NM_001127222.2(CACNA1A):c.19G>A (p.Glu7Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2003A>T (p.Asp668Val)
|
|
|
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.2016C>T (p.Val672=)
|
|
|
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)
|
rs2144980726
|
|
NM_001127222.2(CACNA1A):c.2018T>C (p.Met673Thr)
|
rs1064796036
|
|
NM_001127222.2(CACNA1A):c.201C>A (p.Val67=)
|
|
|
NM_001127222.2(CACNA1A):c.2020T>C (p.Tyr674His)
|
|
|
NM_001127222.2(CACNA1A):c.2022C>A (p.Tyr674Ter)
|
rs940460024
|
|
NM_001127222.2(CACNA1A):c.2023G>A (p.Asp675Asn)
|
rs906669300
|
|
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.203G>T (p.Arg68Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2040G>C (p.Gln680His)
|
|
|
NM_001127222.2(CACNA1A):c.2045G>T (p.Gly682Val)
|
rs1057524618
|
|
NM_001127222.2(CACNA1A):c.2045dup (p.Val683fs)
|
|
|
NM_001127222.2(CACNA1A):c.2046C>A (p.Gly682=)
|
|
|
NM_001127222.2(CACNA1A):c.2047G>A (p.Val683Met)
|
|
|
NM_001127222.2(CACNA1A):c.2056G>A (p.Gly686Ser)
|
rs1064795643
|
|
NM_001127222.2(CACNA1A):c.2067_2068delinsGGAG (p.Phe689fs)
|
rs1568514371
|
|
NM_001127222.2(CACNA1A):c.2074T>C (p.Tyr692His)
|
rs2144980511
|
|
NM_001127222.2(CACNA1A):c.2075A>G (p.Tyr692Cys)
|
rs2057841267
|
|
NM_001127222.2(CACNA1A):c.2077T>A (p.Phe693Ile)
|
rs2057841232
|
|
NM_001127222.2(CACNA1A):c.2088G>A (p.Leu696=)
|
rs908321451
|
|
NM_001127222.2(CACNA1A):c.2092C>T (p.Leu698Phe)
|
|
|
NM_001127222.2(CACNA1A):c.2098G>A (p.Gly700Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)
|
rs2144980363
|
|
NM_001127222.2(CACNA1A):c.209A>G (p.Asn70Ser)
|
rs749526415
|
|
NM_001127222.2(CACNA1A):c.2104+10A>G
|
rs2057840734
|
|
NM_001127222.2(CACNA1A):c.2105-5dup
|
rs2144979466
|
|
NM_001127222.2(CACNA1A):c.2105-9C>G
|
rs1392079452
|
|
NM_001127222.2(CACNA1A):c.2105-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.2105A>T (p.Tyr702Phe)
|
rs2057837052
|
|
NM_001127222.2(CACNA1A):c.2106C>T (p.Tyr702=)
|
|
|
NM_001127222.2(CACNA1A):c.2107A>T (p.Thr703Ser)
|
rs1600283133
|
|
NM_001127222.2(CACNA1A):c.2118T>G (p.Asn706Lys)
|
rs2057836849
|
|
NM_001127222.2(CACNA1A):c.2123T>C (p.Phe708Ser)
|
rs2057836815
|
|
NM_001127222.2(CACNA1A):c.2124C>A (p.Phe708Leu)
|
rs762654239
|
|
NM_001127222.2(CACNA1A):c.2127G>T (p.Leu709Phe)
|
rs886041654
|
|
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)
|
rs1568514116
|
|
NM_001127222.2(CACNA1A):c.2131A>T (p.Ile711Phe)
|
rs1568514116
|
|
NM_001127222.2(CACNA1A):c.2133C>A (p.Ile711=)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2134G>T (p.Ala712Ser)
|
rs886037945
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala)
|
rs121908213
|
|
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
|
|
|
NM_001127222.2(CACNA1A):c.2141A>G (p.Asp714Gly)
|
rs2057836063
|
|
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu)
|
rs121908218
|
|
NM_001127222.2(CACNA1A):c.2142C>G (p.Asp714Glu)
|
rs121908218
|
|
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr)
|
rs1555757432
|
|
NM_001127222.2(CACNA1A):c.2144A>G (p.Asn715Ser)
|
rs1555757432
|
|
NM_001127222.2(CACNA1A):c.2149G>A (p.Ala717Thr)
|
rs2144979185
|
|
NM_001127222.2(CACNA1A):c.2172+14G>A
|
rs1195908031
|
|
NM_001127222.2(CACNA1A):c.2172+16G>A
|
rs895983254
|
|
NM_001127222.2(CACNA1A):c.2172+4G>A
|
rs1600283002
|
|
NM_001127222.2(CACNA1A):c.2172+7G>C
|
rs1600282994
|
|
NM_001127222.2(CACNA1A):c.2172+7G>T
|
rs1600282994
|
|
NM_001127222.2(CACNA1A):c.2173-11G>T
|
|
|
NM_001127222.2(CACNA1A):c.2173-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.2175C>T (p.Asp725=)
|
|
|
NM_001127222.2(CACNA1A):c.2180A>G (p.Gln727Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2187A>G (p.Glu729=)
|
rs2144964768
|
|
NM_001127222.2(CACNA1A):c.2188G>C (p.Glu730Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2191G>T (p.Glu731Ter)
|
rs1555756737
|
|
NM_001127222.2(CACNA1A):c.219G>A (p.Thr73=)
|
|
|
NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys)
|
rs2057768031
|
|
NM_001127222.2(CACNA1A):c.2210T>C (p.Leu737Pro)
|
rs2057767797
|
|
NM_001127222.2(CACNA1A):c.2232G>A (p.Glu744=)
|
rs2144964550
|
|
NM_001127222.2(CACNA1A):c.2237C>A (p.Ala746Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2245A>G (p.Ser749Gly)
|
rs1248327304
|
|
NM_001127222.2(CACNA1A):c.2255C>A (p.Ser752Tyr)
|
rs535900273
|
|
NM_001127222.2(CACNA1A):c.2256C>A (p.Ser752=)
|
|
|
NM_001127222.2(CACNA1A):c.2256C>G (p.Ser752=)
|
rs764816582
|
|
NM_001127222.2(CACNA1A):c.225C>G (p.Asn75Lys)
|
rs1982991598
|
|
NM_001127222.2(CACNA1A):c.2270C>G (p.Ser757Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2270_2273dup (p.Ala759fs)
|
|
|
NM_001127222.2(CACNA1A):c.2279+12T>G
|
|
|
NM_001127222.2(CACNA1A):c.2279+223dup
|
rs60111064
|
|
NM_001127222.2(CACNA1A):c.2279+232del
|
rs60111064
|
|
NM_001127222.2(CACNA1A):c.2280-12A>G
|
|
|
NM_001127222.2(CACNA1A):c.2280-17dup
|
rs2144958686
|
|
NM_001127222.2(CACNA1A):c.2280-5T>A
|
rs1555756483
|
|
NM_001127222.2(CACNA1A):c.2291A>G (p.Gln764Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2292G>C (p.Gln764His)
|
rs747111223
|
|
NM_001127222.2(CACNA1A):c.2293A>G (p.Lys765Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2299C>A (p.Gln767Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2304G>C (p.Lys768Asn)
|
rs771905201
|
|
NM_001127222.2(CACNA1A):c.2308G>A (p.Ala770Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2309C>T (p.Ala770Val)
|
rs2057740662
|
|
NM_001127222.2(CACNA1A):c.2310_2337dup (p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer)
|
rs1057520154
|
|
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)
|
rs2144958410
|
|
NM_001127222.2(CACNA1A):c.2312A>G (p.Lys771Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2312del (p.Lys771fs)
|
rs2057740525
|
|
NM_001127222.2(CACNA1A):c.2317_2319delinsAC (p.Val773fs)
|
rs1555756461
|
|
NM_001127222.2(CACNA1A):c.2320T>C (p.Trp774Arg)
|
rs1568509826
|
|
NM_001127222.2(CACNA1A):c.2327A>G (p.Gln776Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2330G>A (p.Arg777Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2335A>T (p.Ser779Cys)
|
rs2144958254
|
|
NM_001127222.2(CACNA1A):c.2336G>A (p.Ser779Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2336G>C (p.Ser779Thr)
|
rs372715067
|
|
NM_001127222.2(CACNA1A):c.2337T>C (p.Ser779=)
|
rs1555756457
|
|
NM_001127222.2(CACNA1A):c.2343G>A (p.Met781Ile)
|
|
|
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
|
|
|
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)
|
rs1233611505
|
|
NM_001127222.2(CACNA1A):c.234C>T (p.Leu78=)
|
rs1982990940
|
|
NM_001127222.2(CACNA1A):c.2350C>T (p.Gln784Ter)
|
|
|
NM_001127222.2(CACNA1A):c.2352G>C (p.Gln784His)
|
rs2144958118
|
|
NM_001127222.2(CACNA1A):c.2355C>G (p.Asn785Lys)
|
rs2144958094
|
|
NM_001127222.2(CACNA1A):c.2356T>C (p.Leu786=)
|
rs1555756445
|
|
NM_001127222.2(CACNA1A):c.2357del (p.Leu786fs)
|
rs2057739636
|
|
NM_001127222.2(CACNA1A):c.235T>G (p.Phe79Val)
|
rs2145192231
|
|
NM_001127222.2(CACNA1A):c.235_237del (p.Phe79del)
|
rs1568719711
|
|
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.2371G>A (p.Glu791Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2374G>A (p.Ala792Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2374G>T (p.Ala792Ser)
|
rs753248182
|
|
NM_001127222.2(CACNA1A):c.2381A>G (p.Tyr794Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2381A>T (p.Tyr794Phe)
|
rs1374890716
|
|
NM_001127222.2(CACNA1A):c.2382T>C (p.Tyr794=)
|
rs1299468325
|
|
NM_001127222.2(CACNA1A):c.2383A>T (p.Asn795Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.2385C>G (p.Asn795Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2386G>A (p.Glu796Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2390T>C (p.Met797Thr)
|
rs121908241
|
|
NM_001127222.2(CACNA1A):c.2392G>A (p.Asp798Asn)
|
rs1380195853
|
|
NM_001127222.2(CACNA1A):c.2393A>G (p.Asp798Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val)
|
rs1060499675
|
|
NM_001127222.2(CACNA1A):c.2395C>A (p.Pro799Thr)
|
rs2144957730
|
|
NM_001127222.2(CACNA1A):c.2400C>T (p.Asp800=)
|
rs376074188
|
|
NM_001127222.2(CACNA1A):c.2401G>A (p.Glu801Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2401G>T (p.Glu801Ter)
|
rs1231997862
|
|
NM_001127222.2(CACNA1A):c.2402dup (p.Arg802fs)
|
|
|
NM_001127222.2(CACNA1A):c.2404C>T (p.Arg802Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2407T>C (p.Trp803Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2408G>A (p.Trp803Ter)
|
rs1600274038
|
|
NM_001127222.2(CACNA1A):c.240C>T (p.Leu80=)
|
|
|
NM_001127222.2(CACNA1A):c.2418C>T (p.Ala806=)
|
|
|
NM_001127222.2(CACNA1A):c.2420A>C (p.Tyr807Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2422A>T (p.Thr808Ser)
|
rs772177961
|
|
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.2435G>T (p.Arg812Leu)
|
rs953797733
|
|
NM_001127222.2(CACNA1A):c.2439A>G (p.Pro813=)
|
rs2144957398
|
|
NM_001127222.2(CACNA1A):c.2440G>A (p.Asp814Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2443A>G (p.Met815Val)
|
|
|
NM_001127222.2(CACNA1A):c.2447A>G (p.Lys816Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2451G>A (p.Thr817=)
|
rs201998077
|
|
NM_001127222.2(CACNA1A):c.2456T>C (p.Leu819Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2465C>T (p.Pro822Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2471T>A (p.Val824Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2472G>A (p.Val824=)
|
|
|
NM_001127222.2(CACNA1A):c.2473G>A (p.Val825Met)
|
rs2144957270
|
|
NM_001127222.2(CACNA1A):c.2481G>A (p.Pro827=)
|
rs1568509413
|
|
NM_001127222.2(CACNA1A):c.2481_2482delinsTT (p.Gln828Ter)
|
|
|
NM_001127222.2(CACNA1A):c.2482C>T (p.Gln828Ter)
|
rs2057736834
|
|
NM_001127222.2(CACNA1A):c.2484G>C (p.Gln828His)
|
|
|
NM_001127222.2(CACNA1A):c.2485G>A (p.Glu829Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2487G>C (p.Glu829Asp)
|
rs755434242
|
|
NM_001127222.2(CACNA1A):c.2488A>G (p.Asn830Asp)
|
rs2144957160
|
|
NM_001127222.2(CACNA1A):c.2491C>A (p.Arg831Ser)
|
rs1464680327
|
|
NM_001127222.2(CACNA1A):c.2491C>G (p.Arg831Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2492G>C (p.Arg831Pro)
|
rs1242675074
|
|
NM_001127222.2(CACNA1A):c.2495A>G (p.Asn832Ser)
|
|
|
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.2509A>C (p.Lys837Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2510A>G (p.Lys837Arg)
|
rs1293855171
|
|
NM_001127222.2(CACNA1A):c.2512A>G (p.Ser838Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2513G>T (p.Ser838Ile)
|
rs2057735935
|
|
NM_001127222.2(CACNA1A):c.2515C>T (p.Arg839Trp)
|
|
|
NM_001127222.2(CACNA1A):c.2516G>A (p.Arg839Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2518G>C (p.Ala840Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2518_2529delinsCGG (p.Ala840_Pro843delinsArg)
|
rs2144956802
|
|
NM_001127222.2(CACNA1A):c.2519C>T (p.Ala840Val)
|
|
|
NM_001127222.2(CACNA1A):c.2523C>T (p.Ala841=)
|
|
|
NM_001127222.2(CACNA1A):c.2524G>A (p.Glu842Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter)
|
rs767534576
|
|
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)
|
rs2144956632
|
|
NM_001127222.2(CACNA1A):c.2531C>T (p.Thr844Ile)
|
|
|
NM_001127222.2(CACNA1A):c.2533G>A (p.Val845Met)
|
rs1168020406
|
|
NM_001127222.2(CACNA1A):c.2536G>A (p.Asp846Asn)
|
|
|
NM_001127222.2(CACNA1A):c.2539C>T (p.Gln847Ter)
|
rs1420078244
|
|
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2549G>A (p.Gly850Asp)
|
rs2144956644
|
|
NM_001127222.2(CACNA1A):c.254A>G (p.Asn85Ser)
|
rs746902081
|
|
NM_001127222.2(CACNA1A):c.2551C>T (p.Gln851Ter)
|
rs1600273534
|
|
NM_001127222.2(CACNA1A):c.2557_2586delinsGT (p.Arg853fs)
|
|
|
NM_001127222.2(CACNA1A):c.2559C>T (p.Arg853=)
|
|
|
NM_001127222.2(CACNA1A):c.2560G>C (p.Ala854Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2563G>A (p.Glu855Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2564A>C (p.Glu855Ala)
|
rs2057734618
|
|
NM_001127222.2(CACNA1A):c.2568C>T (p.Asp856=)
|
rs2144956514
|
|
NM_001127222.2(CACNA1A):c.2575A>G (p.Arg859Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2580A>G (p.Lys860=)
|
|
|
NM_001127222.2(CACNA1A):c.2581C>G (p.Gln861Glu)
|
rs1407784551
|
|
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.2586C>G (p.Ala862=)
|
rs1390932807
|
|
NM_001127222.2(CACNA1A):c.2587C>A (p.Arg863Ser)
|
rs777076641
|
|
NM_001127222.2(CACNA1A):c.2587C>G (p.Arg863Gly)
|
|
|
NM_001127222.2(CACNA1A):c.258G>C (p.Val86=)
|
|
|
NM_001127222.2(CACNA1A):c.2592C>T (p.Tyr864=)
|
rs1463277441
|
|
NM_001127222.2(CACNA1A):c.2594A>T (p.His865Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)
|
rs2144956340
|
|
NM_001127222.2(CACNA1A):c.2599C>A (p.Arg867=)
|
rs2057733890
|
|
NM_001127222.2(CACNA1A):c.25C>T (p.Pro9Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2600G>C (p.Arg867Pro)
|
rs754326939
|
|
NM_001127222.2(CACNA1A):c.2602G>A (p.Ala868Thr)
|
rs1175516920
|
|
NM_001127222.2(CACNA1A):c.2602G>T (p.Ala868Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
|
|
|
NM_001127222.2(CACNA1A):c.2603C>T (p.Ala868Val)
|
|
|
NM_001127222.2(CACNA1A):c.2606G>C (p.Arg869Pro)
|
rs1057518589
|
|
NM_001127222.2(CACNA1A):c.2608G>T (p.Asp870Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.2611C>T (p.Pro871Ser)
|
rs780462531
|
|
NM_001127222.2(CACNA1A):c.2613C>T (p.Pro871=)
|
|
|
NM_001127222.2(CACNA1A):c.2616C>A (p.Ser872Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2617G>C (p.Gly873Arg)
|
rs750660386
|
|
NM_001127222.2(CACNA1A):c.2619C>T (p.Gly873=)
|
rs761874927
|
|
NM_001127222.2(CACNA1A):c.2621C>T (p.Ser874Leu)
|
rs1057522802
|
|
NM_001127222.2(CACNA1A):c.2627G>A (p.Gly876Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2627G>C (p.Gly876Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2630T>A (p.Leu877Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2633A>T (p.Asp878Val)
|
rs1568508904
|
|
NM_001127222.2(CACNA1A):c.2633_2649dup (p.Ala884fs)
|
|
|
NM_001127222.2(CACNA1A):c.2636C>T (p.Ala879Val)
|
rs2057732636
|
|
NM_001127222.2(CACNA1A):c.2640G>C (p.Arg880=)
|
rs759401764
|
|
NM_001127222.2(CACNA1A):c.2644C>T (p.Pro882Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2645C>T (p.Pro882Leu)
|
|
|
NM_001127222.2(CACNA1A):c.264A>C (p.Arg88Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2654G>A (p.Gly885Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2657G>A (p.Ser886Asn)
|
rs2144955896
|
|
NM_001127222.2(CACNA1A):c.2667C>T (p.Ala889=)
|
|
|
NM_001127222.2(CACNA1A):c.2668G>A (p.Glu890Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2668G>C (p.Glu890Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2671C>T (p.Leu891=)
|
rs1205064338
|
|
NM_001127222.2(CACNA1A):c.2672T>A (p.Leu891Gln)
|
rs1171365113
|
|
NM_001127222.2(CACNA1A):c.2674A>G (p.Ser892Gly)
|
rs2057731579
|
|
NM_001127222.2(CACNA1A):c.2683G>A (p.Gly895Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2683G>C (p.Gly895Arg)
|
rs1358948688
|
|
NM_001127222.2(CACNA1A):c.2685A>T (p.Gly895=)
|
|
|
NM_001127222.2(CACNA1A):c.2687C>T (p.Pro896Leu)
|
rs121908242
|
|
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg)
|
rs751726770
|
|
NM_001127222.2(CACNA1A):c.2694C>T (p.Gly898=)
|
|
|
NM_001127222.2(CACNA1A):c.2695C>T (p.Arg899Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2697C>G (p.Arg899=)
|
|
|
NM_001127222.2(CACNA1A):c.26C>G (p.Pro9Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2702C>G (p.Ser901Trp)
|
|
|
NM_001127222.2(CACNA1A):c.2704G>T (p.Asp902Tyr)
|
rs2057730771
|
|
NM_001127222.2(CACNA1A):c.2706C>G (p.Asp902Glu)
|
rs1446752227
|
|
NM_001127222.2(CACNA1A):c.2706C>T (p.Asp902=)
|
rs1446752227
|
|
NM_001127222.2(CACNA1A):c.2708A>C (p.His903Pro)
|
rs1600272904
|
|
NM_001127222.2(CACNA1A):c.2715C>G (p.Ala905=)
|
|
|
NM_001127222.2(CACNA1A):c.2715C>T (p.Ala905=)
|
|
|
NM_001127222.2(CACNA1A):c.271G>C (p.Ala91Pro)
|
|
|
NM_001127222.2(CACNA1A):c.2720A>G (p.Glu907Gly)
|
rs2144955398
|
|
NM_001127222.2(CACNA1A):c.2723_2738delinsTG (p.Gly908fs)
|
|
|
NM_001127222.2(CACNA1A):c.2726G>A (p.Ser909Asn)
|
rs1248444650
|
|
NM_001127222.2(CACNA1A):c.2728C>G (p.Leu910Val)
|
|
|
NM_001127222.2(CACNA1A):c.2729T>A (p.Leu910Gln)
|
rs953766694
|
|
NM_001127222.2(CACNA1A):c.2730G>A (p.Leu910=)
|
rs987547951
|
|
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.2742G>A (p.Gly914=)
|
rs2144955190
|
|
NM_001127222.2(CACNA1A):c.2751G>A (p.Glu917=)
|
|
|
NM_001127222.2(CACNA1A):c.2752G>T (p.Gly918Cys)
|
rs2144955129
|
|
NM_001127222.2(CACNA1A):c.2755G>A (p.Glu919Lys)
|
rs1555756130
|
|
NM_001127222.2(CACNA1A):c.2755G>T (p.Glu919Ter)
|
rs1555756130
|
|
NM_001127222.2(CACNA1A):c.2755_2769dup (p.Glu919_Gly923dup)
|
rs2057728868
|
|
NM_001127222.2(CACNA1A):c.2757G>A (p.Glu919=)
|
rs747307828
|
|
NM_001127222.2(CACNA1A):c.2759C>T (p.Ala920Val)
|
|
|
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.2776G>A (p.Gly926Arg)
|
rs1337217129
|
|
NM_001127222.2(CACNA1A):c.2778G>A (p.Gly926=)
|
rs1035531839
|
|
NM_001127222.2(CACNA1A):c.2779del (p.Asp927fs)
|
|
|
NM_001127222.2(CACNA1A):c.2784C>G (p.Pro928=)
|
rs2144954801
|
|
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs)
|
rs1555756091
|
|
NM_001127222.2(CACNA1A):c.2787C>T (p.His929=)
|
rs1555756078
|
|
NM_001127222.2(CACNA1A):c.2789G>C (p.Arg930Pro)
|
rs766234558
|
|
NM_001127222.2(CACNA1A):c.2796C>A (p.His932Gln)
|
rs772941423
|
|
NM_001127222.2(CACNA1A):c.2796C>T (p.His932=)
|
rs772941423
|
|
NM_001127222.2(CACNA1A):c.2801A>G (p.His934Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2803C>T (p.Arg935Trp)
|
rs931394162
|
|
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs)
|
rs1600272344
|
|
NM_001127222.2(CACNA1A):c.2805G>A (p.Arg935=)
|
|
|
NM_001127222.2(CACNA1A):c.2805G>T (p.Arg935=)
|
rs1002026253
|
|
NM_001127222.2(CACNA1A):c.2806C>A (p.Gln936Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2806C>G (p.Gln936Glu)
|
rs1318353774
|
|
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter)
|
rs1318353774
|
|
NM_001127222.2(CACNA1A):c.2807A>T (p.Gln936Leu)
|
rs1179931638
|
|
NM_001127222.2(CACNA1A):c.2808G>T (p.Gln936His)
|
rs1439845382
|
|
NM_001127222.2(CACNA1A):c.2810G>T (p.Gly937Val)
|
|
|
NM_001127222.2(CACNA1A):c.2811G>C (p.Gly937=)
|
|
|
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
|
|
|
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.2813G>T (p.Gly938Val)
|
rs747413278
|
|
NM_001127222.2(CACNA1A):c.2813del (p.Gly938fs)
|
|
|
NM_001127222.2(CACNA1A):c.2813dup (p.Ser939fs)
|
rs587776694
|
|
NM_001127222.2(CACNA1A):c.2819G>A (p.Arg940Lys)
|
rs1439559578
|
|
NM_001127222.2(CACNA1A):c.2820G>A (p.Arg940=)
|
|
|
NM_001127222.2(CACNA1A):c.2821G>C (p.Glu941Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2823G>C (p.Glu941Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2828G>A (p.Arg943His)
|
rs753862352
|
|
NM_001127222.2(CACNA1A):c.2830A>T (p.Ser944Cys)
|
|
|
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.2837_2844del (p.Ser946fs)
|
|
|
NM_001127222.2(CACNA1A):c.2840C>G (p.Pro947Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2840C>T (p.Pro947Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2840del (p.Pro947fs)
|
rs2144954299
|
|
NM_001127222.2(CACNA1A):c.2843G>T (p.Arg948Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2844_2853del (p.Ala951fs)
|
rs1555755977
|
|
NM_001127222.2(CACNA1A):c.2846C>G (p.Thr949Arg)
|
|
|
NM_001127222.2(CACNA1A):c.284C>G (p.Thr95Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2850C>T (p.Gly950=)
|
rs2144954181
|
|
NM_001127222.2(CACNA1A):c.2851G>A (p.Ala951Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2856C>A (p.Asp952Glu)
|
rs2057726092
|
|
NM_001127222.2(CACNA1A):c.2857G>A (p.Gly953Arg)
|
rs1057518292
|
|
NM_001127222.2(CACNA1A):c.2858G>A (p.Gly953Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2859G>A (p.Gly953=)
|
|
|
NM_001127222.2(CACNA1A):c.2863C>T (p.His955Tyr)
|
rs2057725846
|
|
NM_001127222.2(CACNA1A):c.2865T>G (p.His955Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2865del (p.Arg956fs)
|
rs786200962
|
|
NM_001127222.2(CACNA1A):c.2866C>A (p.Arg956=)
|
rs1245624754
|
|
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.2867G>C (p.Arg956Pro)
|
|
|
NM_001127222.2(CACNA1A):c.286G>T (p.Glu96Ter)
|
|
|
NM_001127222.2(CACNA1A):c.2870G>A (p.Arg957His)
|
|
|
NM_001127222.2(CACNA1A):c.2873A>G (p.His958Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2875C>A (p.Arg959Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2875C>T (p.Arg959Cys)
|
rs2144953917
|
|
NM_001127222.2(CACNA1A):c.2877C>A (p.Arg959=)
|
|
|
NM_001127222.2(CACNA1A):c.2880G>T (p.Ala960=)
|
rs1600272032
|
|
NM_001127222.2(CACNA1A):c.2883C>T (p.His961=)
|
|
|
NM_001127222.2(CACNA1A):c.2886C>T (p.Arg962=)
|
rs1443085599
|
|
NM_001127222.2(CACNA1A):c.2887A>C (p.Arg963=)
|
rs1555755942
|
|
NM_001127222.2(CACNA1A):c.2892C>G (p.Pro964=)
|
|
|
NM_001127222.2(CACNA1A):c.2892C>T (p.Pro964=)
|
rs771351347
|
|
NM_001127222.2(CACNA1A):c.2893G>A (p.Gly965Arg)
|
rs1473069840
|
|
NM_001127222.2(CACNA1A):c.2893G>C (p.Gly965Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2894G>A (p.Gly965Glu)
|
|
|
NM_001127222.2(CACNA1A):c.2895G>A (p.Gly965=)
|
rs1057522107
|
|
NM_001127222.2(CACNA1A):c.2896G>A (p.Glu966Lys)
|
rs747456771
|
|
NM_001127222.2(CACNA1A):c.2896G>C (p.Glu966Gln)
|
|
|
NM_001127222.2(CACNA1A):c.2896del (p.Glu966fs)
|
|
|
NM_001127222.2(CACNA1A):c.2898G>A (p.Glu966=)
|
|
|
NM_001127222.2(CACNA1A):c.2899G>T (p.Glu967Ter)
|
rs1555755929
|
|
NM_001127222.2(CACNA1A):c.2899_2900delinsTT (p.Glu967Leu)
|
rs2144953620
|
|
NM_001127222.2(CACNA1A):c.2903G>A (p.Gly968Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2903del (p.Gly968fs)
|
rs1555755926
|
|
NM_001127222.2(CACNA1A):c.2904T>G (p.Gly968=)
|
|
|
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs)
|
rs1555755909
|
|
NM_001127222.2(CACNA1A):c.2909A>G (p.Glu970Gly)
|
rs1555755916
|
|
NM_001127222.2(CACNA1A):c.2914A>G (p.Lys972Glu)
|
rs2144953504
|
|
NM_001127222.2(CACNA1A):c.2915A>G (p.Lys972Arg)
|
|
|
NM_001127222.2(CACNA1A):c.2921A>G (p.Glu974Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2922G>A (p.Glu974=)
|
rs1361813971
|
|
NM_001127222.2(CACNA1A):c.2924G>A (p.Arg975Gln)
|
rs748418783
|
|
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.2937C>T (p.His979=)
|
rs1600271774
|
|
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.293C>T (p.Pro98Leu)
|
rs2145192098
|
|
NM_001127222.2(CACNA1A):c.294-15T>A
|
rs1329913453
|
|
NM_001127222.2(CACNA1A):c.294-1C>A
|
rs1568662077
|
|
NM_001127222.2(CACNA1A):c.294-6C>A
|
rs764502828
|
|
NM_001127222.2(CACNA1A):c.2941G>A (p.Glu981Lys)
|
|
|
NM_001127222.2(CACNA1A):c.2944G>A (p.Gly982Ser)
|
rs1367737519
|
|
NM_001127222.2(CACNA1A):c.2950C>G (p.Arg984Gly)
|
|
|
NM_001127222.2(CACNA1A):c.2950C>T (p.Arg984Trp)
|
|
|
NM_001127222.2(CACNA1A):c.2952G>C (p.Arg984=)
|
|
|
NM_001127222.2(CACNA1A):c.2954C>T (p.Pro985Leu)
|
rs1478798895
|
|
NM_001127222.2(CACNA1A):c.2955G>A (p.Pro985=)
|
rs749357610
|
|
NM_001127222.2(CACNA1A):c.2955_2958dup (p.Arg987fs)
|
|
|
NM_001127222.2(CACNA1A):c.2956G>A (p.Ala986Thr)
|
rs376228771
|
|
NM_001127222.2(CACNA1A):c.2956G>T (p.Ala986Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2957C>A (p.Ala986Asp)
|
|
|
NM_001127222.2(CACNA1A):c.2957C>T (p.Ala986Val)
|
rs2144953042
|
|
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.2962G>A (p.Gly988Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2965G>T (p.Gly989Cys)
|
|
|
NM_001127222.2(CACNA1A):c.2966_2967delinsTT (p.Gly989Val)
|
rs2144952921
|
|
NM_001127222.2(CACNA1A):c.2966_2989del (p.Gly989_Pro996del)
|
rs2144952654
|
|
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.2973C>G (p.Gly991=)
|
|
|
NM_001127222.2(CACNA1A):c.2974G>C (p.Glu992Gln)
|
rs2057722066
|
|
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.2982G>C (p.Glu994Asp)
|
rs2144952767
|
|
NM_001127222.2(CACNA1A):c.2983_3000dup (p.Gly995_Glu1000dup)
|
rs2057721057
|
|
NM_001127222.2(CACNA1A):c.2984G>T (p.Gly995Val)
|
rs1002778568
|
|
NM_001127222.2(CACNA1A):c.2985C>A (p.Gly995=)
|
rs1051973
|
|
NM_001127222.2(CACNA1A):c.2986C>G (p.Pro996Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2987C>G (p.Pro996Arg)
|
rs750356248
|
|
NM_001127222.2(CACNA1A):c.2987C>T (p.Pro996Leu)
|
|
|
NM_001127222.2(CACNA1A):c.2989G>A (p.Asp997Asn)
|
rs2057721376
|
|
NM_001127222.2(CACNA1A):c.2991C>T (p.Asp997=)
|
|
|
NM_001127222.2(CACNA1A):c.2993G>A (p.Gly998Glu)
|
rs2057721231
|
|
NM_001127222.2(CACNA1A):c.2994G>A (p.Gly998=)
|
|
|
NM_001127222.2(CACNA1A):c.2995G>A (p.Gly999Ser)
|
|
|
NM_001127222.2(CACNA1A):c.2996del (p.Gly999fs)
|
|
|
NM_001127222.2(CACNA1A):c.2996dup (p.Glu1000fs)
|
rs2057721188
|
|
NM_001127222.2(CACNA1A):c.2997C>T (p.Gly999=)
|
|
|
NM_001127222.2(CACNA1A):c.3000G>T (p.Glu1000Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3002G>A (p.Arg1001His)
|
|
|
NM_001127222.2(CACNA1A):c.3002G>T (p.Arg1001Leu)
|
rs1424294725
|
|
NM_001127222.2(CACNA1A):c.3003C>T (p.Arg1001=)
|
|
|
NM_001127222.2(CACNA1A):c.3004A>T (p.Arg1002Trp)
|
rs1175036875
|
|
NM_001127222.2(CACNA1A):c.3006_3007delinsCT (p.Arg1002_Arg1003delinsSerTer)
|
rs2144952476
|
|
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del)
|
rs763302316
|
|
NM_001127222.2(CACNA1A):c.3012G>A (p.Arg1004=)
|
|
|
NM_001127222.2(CACNA1A):c.3017G>A (p.Arg1006Gln)
|
rs1268938831
|
|
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3018G>A (p.Arg1006=)
|
|
|
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)
|
rs886037944
|
|
NM_001127222.2(CACNA1A):c.301G>C (p.Glu101Gln)
|
rs886037944
|
|
NM_001127222.2(CACNA1A):c.3020A>T (p.His1007Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3023G>A (p.Gly1008Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3025G>A (p.Ala1009Thr)
|
rs1555755834
|
|
NM_001127222.2(CACNA1A):c.3025G>T (p.Ala1009Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3026C>T (p.Ala1009Val)
|
|
|
NM_001127222.2(CACNA1A):c.302A>C (p.Glu101Ala)
|
rs2060985088
|
|
NM_001127222.2(CACNA1A):c.3031G>A (p.Ala1011Thr)
|
rs1263091149
|
|
NM_001127222.2(CACNA1A):c.3033C>T (p.Ala1011=)
|
rs2144952263
|
|
NM_001127222.2(CACNA1A):c.3034_3048del (p.Thr1012_Asp1016del)
|
|
|
NM_001127222.2(CACNA1A):c.3035C>T (p.Thr1012Met)
|
rs573941336
|
|
NM_001127222.2(CACNA1A):c.3036G>A (p.Thr1012=)
|
rs1302148060
|
|
NM_001127222.2(CACNA1A):c.3036G>C (p.Thr1012=)
|
|
|
NM_001127222.2(CACNA1A):c.3039C>A (p.Tyr1013Ter)
|
rs1568507151
|
|
NM_001127222.2(CACNA1A):c.3039C>G (p.Tyr1013Ter)
|
rs1568507151
|
|
NM_001127222.2(CACNA1A):c.3042G>C (p.Glu1014Asp)
|
rs868354475
|
|
NM_001127222.2(CACNA1A):c.3046G>A (p.Asp1016Asn)
|
rs2057719269
|
|
NM_001127222.2(CACNA1A):c.3046del (p.Asp1016fs)
|
|
|
NM_001127222.2(CACNA1A):c.3049G>A (p.Ala1017Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3049G>C (p.Ala1017Pro)
|
rs1131691393
|
|
NM_001127222.2(CACNA1A):c.3051G>A (p.Ala1017=)
|
rs2057719000
|
|
NM_001127222.2(CACNA1A):c.3051G>C (p.Ala1017=)
|
|
|
NM_001127222.2(CACNA1A):c.3053G>A (p.Arg1018Gln)
|
rs762288499
|
|
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.3067G>A (p.Glu1023Lys)
|
rs1555755809
|
|
NM_001127222.2(CACNA1A):c.3070C>A (p.Arg1024=)
|
rs1180851544
|
|
NM_001127222.2(CACNA1A):c.3072dup (p.Arg1025fs)
|
|
|
NM_001127222.2(CACNA1A):c.3075G>T (p.Arg1025Ser)
|
rs1327191177
|
|
NM_001127222.2(CACNA1A):c.3077A>G (p.His1026Arg)
|
rs2057717972
|
|
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+10G>A
|
|
|
NM_001127222.2(CACNA1A):c.3089+15C>T
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>G
|
|
|
NM_001127222.2(CACNA1A):c.3089+18C>T
|
|
|
NM_001127222.2(CACNA1A):c.3089+1G>A
|
rs2057717676
|
|
NM_001127222.2(CACNA1A):c.3089+3A>C
|
|
|
NM_001127222.2(CACNA1A):c.3089+47_3089+49del
|
rs575123090
|
|
NM_001127222.2(CACNA1A):c.3089+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.308T>C (p.Met103Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3090-10C>T
|
|
|
NM_001127222.2(CACNA1A):c.3090-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.3090-5C>T
|
rs976595665
|
|
NM_001127222.2(CACNA1A):c.3091_3094del
|
|
|
NM_001127222.2(CACNA1A):c.3092A>G (p.Glu1031Gly)
|
rs886043930
|
|
NM_001127222.2(CACNA1A):c.3093G>C (p.Glu1031Asp)
|
|
|
NM_001127222.2(CACNA1A):c.3100G>A (p.Gly1034Ser)
|
rs1600246766
|
|
NM_001127222.2(CACNA1A):c.3101G>A (p.Gly1034Asp)
|
rs2144889565
|
|
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs)
|
rs1131691712
|
|
NM_001127222.2(CACNA1A):c.3105dup (p.Gly1036fs)
|
rs2144889523
|
|
NM_001127222.2(CACNA1A):c.3108G>C (p.Gly1036=)
|
|
|
NM_001127222.2(CACNA1A):c.3108G>T (p.Gly1036=)
|
|
|
NM_001127222.2(CACNA1A):c.3109G>A (p.Val1037Ile)
|
rs769061598
|
|
NM_001127222.2(CACNA1A):c.3112C>T (p.Pro1038Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3117G>A (p.Val1039=)
|
rs745981005
|
|
NM_001127222.2(CACNA1A):c.3122del (p.Gly1041fs)
|
|
|
NM_001127222.2(CACNA1A):c.3124C>A (p.Pro1042Thr)
|
rs2057414935
|
|
NM_001127222.2(CACNA1A):c.3129C>A (p.Asn1043Lys)
|
rs1187232740
|
|
NM_001127222.2(CACNA1A):c.3132G>A (p.Leu1044=)
|
|
|
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter)
|
rs2144889289
|
|
NM_001127222.2(CACNA1A):c.3138dup (p.Thr1047fs)
|
|
|
NM_001127222.2(CACNA1A):c.3143G>A (p.Arg1048Gln)
|
|
|
NM_001127222.2(CACNA1A):c.3144G>A (p.Arg1048=)
|
|
|
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr)
|
rs2057414205
|
|
NM_001127222.2(CACNA1A):c.3148A>G (p.Ile1050Val)
|
|
|
NM_001127222.2(CACNA1A):c.3154C>T (p.Gln1052Ter)
|
rs1568495944
|
|
NM_001127222.2(CACNA1A):c.3157G>C (p.Asp1053His)
|
rs2144889174
|
|
NM_001127222.2(CACNA1A):c.3162G>A (p.Leu1054=)
|
rs1057522586
|
|
NM_001127222.2(CACNA1A):c.3164G>C (p.Gly1055Ala)
|
rs1600246526
|
|
NM_001127222.2(CACNA1A):c.3168C>G (p.Arg1056=)
|
|
|
NM_001127222.2(CACNA1A):c.3169del (p.Gln1057fs)
|
|
|
NM_001127222.2(CACNA1A):c.3174C>G (p.Asp1058Glu)
|
|
|
NM_001127222.2(CACNA1A):c.3175C>A (p.Pro1059Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3179C>G (p.Pro1060Arg)
|
rs763400188
|
|
NM_001127222.2(CACNA1A):c.317C>T (p.Ala106Val)
|
|
|
NM_001127222.2(CACNA1A):c.3189G>A (p.Glu1063=)
|
rs2057413345
|
|
NM_001127222.2(CACNA1A):c.3190G>A (p.Asp1064Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3190G>C (p.Asp1064His)
|
|
|
NM_001127222.2(CACNA1A):c.3195T>C (p.Ile1065=)
|
rs1480156688
|
|
NM_001127222.2(CACNA1A):c.31C>T (p.Arg11Cys)
|
|
|
NM_001127222.2(CACNA1A):c.3213C>A (p.Asn1071Lys)
|
rs1369614864
|
|
NM_001127222.2(CACNA1A):c.3213C>T (p.Asn1071=)
|
|
|
NM_001127222.2(CACNA1A):c.3215del (p.Lys1072fs)
|
rs1555753042
|
|
NM_001127222.2(CACNA1A):c.3225C>T (p.Thr1075=)
|
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127222.2(CACNA1A):c.323T>C (p.Ile108Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3241C>T (p.Pro1081Ser)
|
rs1467243087
|
|
NM_001127222.2(CACNA1A):c.3243C>G (p.Pro1081=)
|
rs749854221
|
|
NM_001127222.2(CACNA1A):c.3247G>C (p.Gly1083Arg)
|
rs753077104
|
|
NM_001127222.2(CACNA1A):c.324C>G (p.Ile108Met)
|
rs2144947382
|
|
NM_001127222.2(CACNA1A):c.3261_3316del (p.Leu1090fs)
|
rs1555752975
|
|
NM_001127222.2(CACNA1A):c.3262G>T (p.Ala1088Ser)
|
|
|
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>T (p.Gly1089Val)
|
|
|
NM_001127222.2(CACNA1A):c.3267C>T (p.Gly1089=)
|
|
|
NM_001127222.2(CACNA1A):c.3277_3283del (p.Ser1093fs)
|
rs2144888569
|
|
NM_001127222.2(CACNA1A):c.3280C>T (p.Pro1094Ser)
|
rs761596969
|
|
NM_001127222.2(CACNA1A):c.3288G>A (p.Lys1096=)
|
rs1555752995
|
|
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.3307C>T (p.Pro1103Ser)
|
|
|
NM_001127222.2(CACNA1A):c.330G>T (p.Ala110=)
|
rs375486960
|
|
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup)
|
rs776584949
|
|
NM_001127222.2(CACNA1A):c.3315C>T (p.Pro1105=)
|
|
|
NM_001127222.2(CACNA1A):c.3319C>T (p.Leu1107=)
|
|
|
NM_001127222.2(CACNA1A):c.3324dup (p.Ile1109fs)
|
|
|
NM_001127222.2(CACNA1A):c.3325A>T (p.Ile1109Phe)
|
rs1568495538
|
|
NM_001127222.2(CACNA1A):c.3329C>A (p.Pro1110His)
|
|
|
NM_001127222.2(CACNA1A):c.3330T>G (p.Pro1110=)
|
|
|
NM_001127222.2(CACNA1A):c.3334A>G (p.Met1112Val)
|
|
|
NM_001127222.2(CACNA1A):c.3345C>T (p.Asn1115=)
|
rs752384911
|
|
NM_001127222.2(CACNA1A):c.3349C>A (p.Gln1117Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3355G>C (p.Ala1119Pro)
|
rs199745070
|
|
NM_001127222.2(CACNA1A):c.3358G>A (p.Ala1120Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3365G>T (p.Arg1122Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3367C>T (p.Arg1123Trp)
|
rs775079497
|
|
NM_001127222.2(CACNA1A):c.3369G>A (p.Arg1123=)
|
|
|
NM_001127222.2(CACNA1A):c.337A>T (p.Ile113Phe)
|
|
|
NM_001127222.2(CACNA1A):c.3383C>A (p.Pro1128Gln)
|
rs754208553
|
|
NM_001127222.2(CACNA1A):c.3390C>G (p.Asn1130Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3393_3401dup (p.Ser1132_Pro1134dup)
|
rs770648017
|
|
NM_001127222.2(CACNA1A):c.3395C>T (p.Ser1132Phe)
|
rs2144887797
|
|
NM_001127222.2(CACNA1A):c.3399T>G (p.Asn1133Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3405C>A (p.Gly1135=)
|
rs751649216
|
|
NM_001127222.2(CACNA1A):c.3406C>T (p.Pro1136Ser)
|
rs764131315
|
|
NM_001127222.2(CACNA1A):c.3407C>T (p.Pro1136Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3409C>A (p.Pro1137Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3410C>A (p.Pro1137His)
|
rs200333359
|
|
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.3411C>A (p.Pro1137=)
|
|
|
NM_001127222.2(CACNA1A):c.3411C>T (p.Pro1137=)
|
rs770525318
|
|
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.3413A>T (p.Lys1138Met)
|
|
|
NM_001127222.2(CACNA1A):c.3414G>A (p.Lys1138=)
|
rs1600245661
|
|
NM_001127222.2(CACNA1A):c.3414G>C (p.Lys1138Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3414del (p.Thr1139fs)
|
rs2144887631
|
|
NM_001127222.2(CACNA1A):c.3415A>T (p.Thr1139Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3416C>T (p.Thr1139Ile)
|
rs2144887603
|
|
NM_001127222.2(CACNA1A):c.3430C>T (p.Leu1144Phe)
|
rs2057405997
|
|
NM_001127222.2(CACNA1A):c.3431T>C (p.Leu1144Pro)
|
rs1600245588
|
|
NM_001127222.2(CACNA1A):c.3442A>T (p.Asn1148Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.3444C>T (p.Asn1148=)
|
|
|
NM_001127222.2(CACNA1A):c.3451G>A (p.Gly1151Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3451G>C (p.Gly1151Arg)
|
|
|
NM_001127222.2(CACNA1A):c.3453C>G (p.Gly1151=)
|
|
|
NM_001127222.2(CACNA1A):c.3457C>T (p.Gln1153Ter)
|
rs201612257
|
|
NM_001127222.2(CACNA1A):c.3461C>G (p.Thr1154Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3464A>G (p.Asn1155Ser)
|
rs992828062
|
|
NM_001127222.2(CACNA1A):c.3464A>T (p.Asn1155Ile)
|
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>A (p.Ala116Thr)
|
rs778725158
|
|
NM_001127222.2(CACNA1A):c.346G>T (p.Ala116Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3473A>C (p.Lys1158Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3478G>A (p.Ala1160Thr)
|
rs1256731049
|
|
NM_001127222.2(CACNA1A):c.3478G>T (p.Ala1160Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs)
|
rs2057404744
|
|
NM_001127222.2(CACNA1A):c.3479C>G (p.Ala1160Gly)
|
rs766027931
|
|
NM_001127222.2(CACNA1A):c.3488_3489delinsAA (p.Pro1163Gln)
|
|
|
NM_001127222.2(CACNA1A):c.3489C>G (p.Pro1163=)
|
rs771567638
|
|
NM_001127222.2(CACNA1A):c.348A>T (p.Ala116=)
|
rs2060983904
|
|
NM_001127222.2(CACNA1A):c.3495C>T (p.His1165=)
|
rs1436962839
|
|
NM_001127222.2(CACNA1A):c.34T>C (p.Tyr12His)
|
|
|
NM_001127222.2(CACNA1A):c.3510C>A (p.Ile1170=)
|
rs1431054685
|
|
NM_001127222.2(CACNA1A):c.3510C>T (p.Ile1170=)
|
|
|
NM_001127222.2(CACNA1A):c.3513C>T (p.Pro1171=)
|
|
|
NM_001127222.2(CACNA1A):c.3515C>T (p.Pro1172Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3515del (p.Pro1172fs)
|
rs1236800371
|
|
NM_001127222.2(CACNA1A):c.3515dup (p.Ala1173fs)
|
|
|
NM_001127222.2(CACNA1A):c.3518C>G (p.Ala1173Gly)
|
rs778036647
|
|
NM_001127222.2(CACNA1A):c.3523C>T (p.Pro1175Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)
|
rs886044439
|
|
NM_001127222.2(CACNA1A):c.3526C>A (p.Pro1176Thr)
|
rs1458640910
|
|
NM_001127222.2(CACNA1A):c.3527C>A (p.Pro1176His)
|
|
|
NM_001127222.2(CACNA1A):c.3528C>A (p.Pro1176=)
|
rs2057403294
|
|
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>A (p.Pro1177His)
|
|
|
NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)
|
rs201789073
|
|
NM_001127222.2(CACNA1A):c.3530C>T (p.Pro1177Leu)
|
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.3531C>T (p.Pro1177=)
|
rs184723350
|
|
NM_001127222.2(CACNA1A):c.3532C>A (p.Leu1178Ile)
|
rs556266465
|
|
NM_001127222.2(CACNA1A):c.3532C>G (p.Leu1178Val)
|
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.3533T>C (p.Leu1178Pro)
|
|
|
NM_001127222.2(CACNA1A):c.3533del (p.Leu1178fs)
|
rs1568494824
|
|
NM_001127222.2(CACNA1A):c.3533dup (p.Asn1179fs)
|
|
|
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.3542C>T (p.Thr1181Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3545T>C (p.Val1182Ala)
|
|
|
NM_001127222.2(CACNA1A):c.354G>C (p.Glu118Asp)
|
rs2144947250
|
|
NM_001127222.2(CACNA1A):c.3553+16C>T
|
|
|
NM_001127222.2(CACNA1A):c.3553+18C>A
|
|
|
NM_001127222.2(CACNA1A):c.3553+19A>T
|
|
|
NM_001127222.2(CACNA1A):c.3553+3G>T
|
rs1057518586
|
|
NM_001127222.2(CACNA1A):c.3553+5G>C
|
rs1600245165
|
|
NM_001127222.2(CACNA1A):c.3554-17G>T
|
|
|
NM_001127222.2(CACNA1A):c.3563del (p.Asn1188fs)
|
rs2144880750
|
|
NM_001127222.2(CACNA1A):c.3565G>A (p.Ala1189Thr)
|
rs1034876149
|
|
NM_001127222.2(CACNA1A):c.3569A>G (p.Asn1190Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3574G>A (p.Asp1192Asn)
|
rs773649403
|
|
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs)
|
rs1600242882
|
|
NM_001127222.2(CACNA1A):c.357G>A (p.Gln119=)
|
rs1568661972
|
|
NM_001127222.2(CACNA1A):c.3584C>T (p.Pro1195Leu)
|
rs1568493631
|
|
NM_001127222.2(CACNA1A):c.3590A>C (p.Lys1197Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs)
|
rs2057373332
|
|
NM_001127222.2(CACNA1A):c.3591A>G (p.Lys1197=)
|
|
|
NM_001127222.2(CACNA1A):c.3596A>G (p.Glu1199Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3597_3599del (p.Glu1200del)
|
|
|
NM_001127222.2(CACNA1A):c.3598G>A (p.Glu1200Lys)
|
|
|
NM_001127222.2(CACNA1A):c.3599A>G (p.Glu1200Gly)
|
rs2057373105
|
|
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.3626G>A (p.Arg1209His)
|
rs374286965
|
|
NM_001127222.2(CACNA1A):c.3626G>T (p.Arg1209Leu)
|
rs374286965
|
|
NM_001127222.2(CACNA1A):c.362dup (p.Pro122fs)
|
|
|
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)
|
rs2057372365
|
|
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.3641C>T (p.Pro1214Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu)
|
rs1476884019
|
|
NM_001127222.2(CACNA1A):c.3644A>G (p.Lys1215Arg)
|
rs1425955042
|
|
NM_001127222.2(CACNA1A):c.3646C>T (p.Pro1216Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3650T>C (p.Met1217Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3652C>T (p.Pro1218Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3652_3653del (p.Pro1218fs)
|
|
|
NM_001127222.2(CACNA1A):c.3666C>T (p.Ser1222=)
|
rs1600242610
|
|
NM_001127222.2(CACNA1A):c.3684G>C (p.Thr1228=)
|
|
|
NM_001127222.2(CACNA1A):c.3685A>G (p.Thr1229Ala)
|
|
|
NM_001127222.2(CACNA1A):c.3686C>A (p.Thr1229Asn)
|
|
|
NM_001127222.2(CACNA1A):c.3686C>T (p.Thr1229Ile)
|
|
|
NM_001127222.2(CACNA1A):c.368A>T (p.Asp123Val)
|
rs1555789420
|
|
NM_001127222.2(CACNA1A):c.3691C>T (p.Pro1231Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3692+1G>T
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3692+31G>T
|
rs111602970
|
|
NM_001127222.2(CACNA1A):c.3692+7A>G
|
|
|
NM_001127222.2(CACNA1A):c.3692C>T (p.Pro1231Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3693-19G>A
|
|
|
NM_001127222.2(CACNA1A):c.3693-20C>A
|
|
|
NM_001127222.2(CACNA1A):c.3693-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.3693-4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3693C>G (p.Pro1231=)
|
rs1555751817
|
|
NM_001127222.2(CACNA1A):c.3694dup (p.Leu1232fs)
|
rs1568493323
|
|
NM_001127222.2(CACNA1A):c.3697C>T (p.Arg1233Cys)
|
rs2057333004
|
|
NM_001127222.2(CACNA1A):c.3698G>A (p.Arg1233His)
|
|
|
NM_001127222.2(CACNA1A):c.3701G>C (p.Arg1234Pro)
|
rs373183625
|
|
NM_001127222.2(CACNA1A):c.3702C>T (p.Arg1234=)
|
rs2144871814
|
|
NM_001127222.2(CACNA1A):c.3705G>A (p.Leu1235=)
|
|
|
NM_001127222.2(CACNA1A):c.371A>G (p.Asp124Gly)
|
|
|
NM_001127222.2(CACNA1A):c.3724C>G (p.Leu1242Val)
|
rs1275961783
|
|
NM_001127222.2(CACNA1A):c.3726G>A (p.Leu1242=)
|
rs1568491811
|
|
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.3742_3744del (p.Cys1248del)
|
|
|
NM_001127222.2(CACNA1A):c.3756C>T (p.Val1252=)
|
|
|
NM_001127222.2(CACNA1A):c.3757A>T (p.Ile1253Phe)
|
rs2144871593
|
|
NM_001127222.2(CACNA1A):c.3764T>C (p.Met1255Thr)
|
rs1085307644
|
|
NM_001127222.2(CACNA1A):c.3765G>A (p.Met1255Ile)
|
rs2144871559
|
|
NM_001127222.2(CACNA1A):c.3770G>A (p.Ser1257Asn)
|
rs2144871537
|
|
NM_001127222.2(CACNA1A):c.3771C>T (p.Ser1257=)
|
rs1600238829
|
|
NM_001127222.2(CACNA1A):c.3775G>A (p.Ala1259Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3781G>A (p.Ala1261Thr)
|
|
|
NM_001127222.2(CACNA1A):c.3787G>A (p.Glu1263Lys)
|
rs1555751762
|
|
NM_001127222.2(CACNA1A):c.3789G>A (p.Glu1263=)
|
|
|
NM_001127222.2(CACNA1A):c.3794del (p.Pro1265fs)
|
rs587776692
|
|
NM_001127222.2(CACNA1A):c.3797T>C (p.Val1266Ala)
|
rs2144871393
|
|
NM_001127222.2(CACNA1A):c.3798G>A (p.Val1266=)
|
|
|
NM_001127222.2(CACNA1A):c.379A>G (p.Thr127Ala)
|
rs2144947148
|
|
NM_001127222.2(CACNA1A):c.37G>C (p.Gly13Arg)
|
|
|
NM_001127222.2(CACNA1A):c.3807C>T (p.Asn1269=)
|
rs557721660
|
|
NM_001127222.2(CACNA1A):c.3814C>A (p.Arg1272=)
|
rs372970430
|
|
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+15G>C
|
rs2144871142
|
|
NM_001127222.2(CACNA1A):c.3822+1G>A
|
rs794727355
|
|
NM_001127222.2(CACNA1A):c.3822+20C>A
|
rs1056191725
|
|
NM_001127222.2(CACNA1A):c.3822+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.3822+70A>G
|
rs1462524553
|
|
NM_001127222.2(CACNA1A):c.3822+9C>T
|
|
|
NM_001127222.2(CACNA1A):c.3823-16C>T
|
|
|
NM_001127222.2(CACNA1A):c.3823-1G>C
|
|
|
NM_001127222.2(CACNA1A):c.3823-3C>T
|
rs1057521929
|
|
NM_001127222.2(CACNA1A):c.3823-4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3823G>C (p.Val1275Leu)
|
rs995835535
|
|
NM_001127222.2(CACNA1A):c.3825G>A (p.Val1275=)
|
|
|
NM_001127222.2(CACNA1A):c.3829C>T (p.Arg1277Ter)
|
rs121909323
|
|
NM_001127222.2(CACNA1A):c.3838_3841del (p.Asp1280fs)
|
rs2144839766
|
|
NM_001127222.2(CACNA1A):c.383C>T (p.Pro128Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3841T>A (p.Tyr1281Asn)
|
rs1184262651
|
|
NM_001127222.2(CACNA1A):c.3843C>G (p.Tyr1281Ter)
|
rs774224202
|
|
NM_001127222.2(CACNA1A):c.3844G>A (p.Val1282Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3844G>C (p.Val1282Leu)
|
|
|
NM_001127222.2(CACNA1A):c.3848T>C (p.Phe1283Ser)
|
rs2057169274
|
|
NM_001127222.2(CACNA1A):c.384G>A (p.Pro128=)
|
|
|
NM_001127222.2(CACNA1A):c.384G>T (p.Pro128=)
|
|
|
NM_001127222.2(CACNA1A):c.3851C>T (p.Thr1284Ile)
|
rs2057169185
|
|
NM_001127222.2(CACNA1A):c.3853G>A (p.Gly1285Ser)
|
|
|
NM_001127222.2(CACNA1A):c.3855C>T (p.Gly1285=)
|
|
|
NM_001127222.2(CACNA1A):c.3856G>A (p.Val1286Ile)
|
|
|
NM_001127222.2(CACNA1A):c.3868G>C (p.Glu1290Gln)
|
rs2144839606
|
|
NM_001127222.2(CACNA1A):c.3873G>A (p.Met1291Ile)
|
rs2144839595
|
|
NM_001127222.2(CACNA1A):c.3882+15T>G
|
|
|
NM_001127222.2(CACNA1A):c.3882+2T>C
|
rs2057168559
|
|
NM_001127222.2(CACNA1A):c.3882+45del
|
rs34471308
|
|
NM_001127222.2(CACNA1A):c.38G>C (p.Gly13Ala)
|
rs1462714993
|
|
NM_001127222.2(CACNA1A):c.394C>T (p.Arg132Trp)
|
|
|
NM_001127222.2(CACNA1A):c.395G>A (p.Arg132Gln)
|
|
|
NM_001127222.2(CACNA1A):c.399+15T>C
|
rs1395412975
|
|
NM_001127222.2(CACNA1A):c.399+1G>A
|
rs2060983144
|
|
NM_001127222.2(CACNA1A):c.399+1G>C
|
rs2060983144
|
|
NM_001127222.2(CACNA1A):c.399+4A>G
|
|
|
NM_001127222.2(CACNA1A):c.3990-16A>G
|
rs2144773270
|
|
NM_001127222.2(CACNA1A):c.3990-18C>T
|
|
|
NM_001127222.2(CACNA1A):c.3990-20A>G
|
|
|
NM_001127222.2(CACNA1A):c.3990-2A>C
|
|
|
NM_001127222.2(CACNA1A):c.3990-2A>G
|
rs1057524483
|
|
NM_001127222.2(CACNA1A):c.3990-4A>T
|
|
|
NM_001127222.2(CACNA1A):c.3990-9C>A
|
|
|
NM_001127222.2(CACNA1A):c.3990-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.3990-9_3991dup
|
|
|
NM_001127222.2(CACNA1A):c.3998G>A (p.Ser1333Asn)
|
rs2056768399
|
|
NM_001127222.2(CACNA1A):c.399G>C (p.Leu133=)
|
rs2144947082
|
|
NM_001127222.2(CACNA1A):c.400-13C>G
|
|
|
NM_001127222.2(CACNA1A):c.400-14T>A
|
rs779677432
|
|
NM_001127222.2(CACNA1A):c.400-15T>G
|
|
|
NM_001127222.2(CACNA1A):c.400-16C>T
|
|
|
NM_001127222.2(CACNA1A):c.400-18G>T
|
rs2060943702
|
|
NM_001127222.2(CACNA1A):c.400-1G>A
|
|
|
NM_001127222.2(CACNA1A):c.400-4C>T
|
|
|
NM_001127222.2(CACNA1A):c.4000A>G (p.Lys1334Glu)
|
rs121908223
|
|
NM_001127222.2(CACNA1A):c.4009G>T (p.Asp1337Tyr)
|
rs1568473283
|
|
NM_001127222.2(CACNA1A):c.4014C>T (p.Ile1338=)
|
|
|
NM_001127222.2(CACNA1A):c.4020G>A (p.Thr1340=)
|
|
|
NM_001127222.2(CACNA1A):c.4020G>T (p.Thr1340=)
|
rs370735316
|
|
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)
|
rs2056768058
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4028C>T (p.Ser1343Phe)
|
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4032C>G (p.Leu1344=)
|
|
|
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.4045G>A (p.Val1349Met)
|
rs1600198481
|
|
NM_001127222.2(CACNA1A):c.4050A>T (p.Leu1350=)
|
|
|
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>T (p.Arg1351Leu)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu)
|
rs1064794808
|
|
NM_001127222.2(CACNA1A):c.4061A>C (p.Lys1354Thr)
|
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4065del (p.Ile1356fs)
|
|
|
NM_001127222.2(CACNA1A):c.4067T>G (p.Ile1356Ser)
|
rs886041541
|
|
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
|
|
|
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp)
|
rs1555745461
|
|
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
|
|
|
NM_001127222.2(CACNA1A):c.4078C>T (p.Pro1360Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4079C>A (p.Pro1360Gln)
|
rs1064795800
|
|
NM_001127222.2(CACNA1A):c.4083G>A (p.Lys1361=)
|
|
|
NM_001127222.2(CACNA1A):c.4085del (p.Leu1362fs)
|
rs2144772838
|
|
NM_001127222.2(CACNA1A):c.4087A>G (p.Lys1363Glu)
|
rs2144772824
|
|
NM_001127222.2(CACNA1A):c.4089+12A>C
|
|
|
NM_001127222.2(CACNA1A):c.4089+15T>C
|
|
|
NM_001127222.2(CACNA1A):c.4089+18T>C
|
|
|
NM_001127222.2(CACNA1A):c.4089+18T>G
|
rs1600198282
|
|
NM_001127222.2(CACNA1A):c.4089+19G>A
|
|
|
NM_001127222.2(CACNA1A):c.4089+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.4089+2T>G
|
rs1600198365
|
|
NM_001127222.2(CACNA1A):c.4089+3G>T
|
|
|
NM_001127222.2(CACNA1A):c.4089+5_4089+6del
|
rs368911651
|
|
NM_001127222.2(CACNA1A):c.4089+6A>T
|
|
|
NM_001127222.2(CACNA1A):c.409G>A (p.Glu137Lys)
|
rs1057518116
|
|
NM_001127222.2(CACNA1A):c.411A>G (p.Glu137=)
|
rs148002271
|
|
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.4251-17C>T
|
|
|
NM_001127222.2(CACNA1A):c.4251-7G>A
|
rs761136437
|
|
NM_001127222.2(CACNA1A):c.4251A>T (p.Arg1417=)
|
|
|
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
|
|
|
NM_001127222.2(CACNA1A):c.4263C>A (p.Leu1421=)
|
|
|
NM_001127222.2(CACNA1A):c.4266C>A (p.Leu1422=)
|
|
|
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
|
|
|
NM_001127222.2(CACNA1A):c.4276A>G (p.Asn1426Asp)
|
rs1005591842
|
|
NM_001127222.2(CACNA1A):c.4278T>C (p.Asn1426=)
|
|
|
NM_001127222.2(CACNA1A):c.4281G>T (p.Glu1427Asp)
|
rs768693060
|
|
NM_001127222.2(CACNA1A):c.4289C>T (p.Ala1430Val)
|
|
|
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.4291C>T (p.Arg1431Ter)
|
rs1568470104
|
|
NM_001127222.2(CACNA1A):c.4297C>A (p.Arg1433=)
|
rs1275025158
|
|
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.4314T>C (p.Tyr1438=)
|
|
|
NM_001127222.2(CACNA1A):c.4314T>G (p.Tyr1438Ter)
|
|
|
NM_001127222.2(CACNA1A):c.4322A>T (p.His1441Leu)
|
rs2144758379
|
|
NM_001127222.2(CACNA1A):c.4324T>G (p.Tyr1442Asp)
|
rs2056674737
|
|
NM_001127222.2(CACNA1A):c.4326C>T (p.Tyr1442=)
|
|
|
NM_001127222.2(CACNA1A):c.4327G>A (p.Asp1443Asn)
|
rs1443877971
|
|
NM_001127222.2(CACNA1A):c.4328A>G (p.Asp1443Gly)
|
rs2056674575
|
|
NM_001127222.2(CACNA1A):c.4337T>C (p.Leu1446Pro)
|
|
|
NM_001127222.2(CACNA1A):c.433T>G (p.Cys145Gly)
|
rs2144936384
|
|
NM_001127222.2(CACNA1A):c.4340G>C (p.Trp1447Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4345C>A (p.Leu1449Met)
|
|
|
NM_001127222.2(CACNA1A):c.4347G>C (p.Leu1449=)
|
rs1419042501
|
|
NM_001127222.2(CACNA1A):c.4352C>G (p.Thr1451Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)
|
rs121908237
|
|
NM_001127222.2(CACNA1A):c.4363G>C (p.Val1455Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu)
|
rs121908237
|
|
NM_001127222.2(CACNA1A):c.4365G>T (p.Val1455=)
|
rs2144758200
|
|
NM_001127222.2(CACNA1A):c.4366del (p.Ser1456fs)
|
rs2144758193
|
|
NM_001127222.2(CACNA1A):c.436_437insG (p.Phe146fs)
|
|
|
NM_001127222.2(CACNA1A):c.4370C>T (p.Thr1457Met)
|
rs2056673232
|
|
NM_001127222.2(CACNA1A):c.4383G>A (p.Trp1461Ter)
|
rs1057518069
|
|
NM_001127222.2(CACNA1A):c.4388+11C>T
|
|
|
NM_001127222.2(CACNA1A):c.4388+13A>G
|
|
|
NM_001127222.2(CACNA1A):c.4388+16G>A
|
|
|
NM_001127222.2(CACNA1A):c.4388+19A>G
|
rs1057524029
|
|
NM_001127222.2(CACNA1A):c.4388+3A>G
|
|
|
NM_001127222.2(CACNA1A):c.4388+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.4389-19C>A
|
|
|
NM_001127222.2(CACNA1A):c.4389-1G>C
|
rs1360397142
|
|
NM_001127222.2(CACNA1A):c.4389-28_4389-12dup
|
|
|
NM_001127222.2(CACNA1A):c.4389-2A>C
|
|
|
NM_001127222.2(CACNA1A):c.4389-5T>C
|
rs896214992
|
|
NM_001127222.2(CACNA1A):c.4390G>A (p.Val1464Ile)
|
rs2144748776
|
|
NM_001127222.2(CACNA1A):c.4392C>A (p.Val1464=)
|
rs1458275517
|
|
NM_001127222.2(CACNA1A):c.4398G>A (p.Lys1466=)
|
rs1555743957
|
|
NM_001127222.2(CACNA1A):c.439G>A (p.Glu147Lys)
|
rs1568659847
|
|
NM_001127222.2(CACNA1A):c.43G>A (p.Gly15Arg)
|
|
|
NM_001127222.2(CACNA1A):c.4426C>T (p.Gln1476Ter)
|
rs1555743942
|
|
NM_001127222.2(CACNA1A):c.4430G>A (p.Gly1477Asp)
|
rs2056602306
|
|
NM_001127222.2(CACNA1A):c.4434C>T (p.Pro1478=)
|
|
|
NM_001127222.2(CACNA1A):c.4434del (p.Ser1479fs)
|
rs2056602254
|
|
NM_001127222.2(CACNA1A):c.4441G>A (p.Gly1481Arg)
|
rs121908232
|
|
NM_001127222.2(CACNA1A):c.4443G>A (p.Gly1481=)
|
rs750865024
|
|
NM_001127222.2(CACNA1A):c.4447C>T (p.Arg1483Cys)
|
rs2144748587
|
|
NM_001127222.2(CACNA1A):c.4448G>A (p.Arg1483His)
|
|
|
NM_001127222.2(CACNA1A):c.4448G>T (p.Arg1483Leu)
|
rs1271930393
|
|
NM_001127222.2(CACNA1A):c.4461C>G (p.Ser1487=)
|
|
|
NM_001127222.2(CACNA1A):c.4466T>C (p.Phe1489Ser)
|
rs121908233
|
|
NM_001127222.2(CACNA1A):c.4469A>G (p.Tyr1490Cys)
|
rs1064795901
|
|
NM_001127222.2(CACNA1A):c.4470C>A (p.Tyr1490Ter)
|
|
|
NM_001127222.2(CACNA1A):c.4471G>A (p.Val1491Ile)
|
|
|
NM_001127222.2(CACNA1A):c.4471G>T (p.Val1491Phe)
|
rs1211294190
|
|
NM_001127222.2(CACNA1A):c.4471GTC[1] (p.Val1492del)
|
|
|
NM_001127222.2(CACNA1A):c.4473C>G (p.Val1491=)
|
|
|
NM_001127222.2(CACNA1A):c.4473C>T (p.Val1491=)
|
|
|
NM_001127222.2(CACNA1A):c.4478A>G (p.Tyr1493Cys)
|
|
|
NM_001127222.2(CACNA1A):c.4479C>T (p.Tyr1493=)
|
rs1057522060
|
|
NM_001127222.2(CACNA1A):c.4493C>G (p.Pro1498Arg)
|
rs2144748419
|
|
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del)
|
rs886041279
|
|
NM_001127222.2(CACNA1A):c.4500C>T (p.Phe1500=)
|
rs2144748402
|
|
NM_001127222.2(CACNA1A):c.4501_4503del (p.Phe1501del)
|
rs1131691374
|
|
NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser)
|
rs2144748359
|
|
NM_001127222.2(CACNA1A):c.4514T>C (p.Phe1505Ser)
|
rs2144748340
|
|
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu)
|
rs757643322
|
|
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)
|
rs886037946
|
|
NM_001127222.2(CACNA1A):c.4519G>T (p.Ala1507Ser)
|
rs886037946
|
|
NM_001127222.2(CACNA1A):c.4520C>A (p.Ala1507Asp)
|
rs1064794629
|
|
NM_001127222.2(CACNA1A):c.4521C>T (p.Ala1507=)
|
|
|
NM_001127222.2(CACNA1A):c.4526TCA[2] (p.Ile1511del)
|
|
|
NM_001127222.2(CACNA1A):c.4527C>G (p.Ile1509Met)
|
rs2144748282
|
|
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
|
|
|
NM_001127222.2(CACNA1A):c.4535C>A (p.Thr1512Asn)
|
rs2144748262
|
|
NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)
|
rs2056600391
|
|
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg)
|
rs2144748225
|
|
NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val)
|
rs2144748218
|
|
NM_001127222.2(CACNA1A):c.4556A>G (p.Lys1519Arg)
|
rs752888622
|
|
NM_001127222.2(CACNA1A):c.455T>A (p.Ile152Asn)
|
|
|
NM_001127222.2(CACNA1A):c.4561A>G (p.Met1521Val)
|
rs2144748158
|
|
NM_001127222.2(CACNA1A):c.4574G>A (p.Ser1525Asn)
|
rs2056600119
|
|
NM_001127222.2(CACNA1A):c.4579G>C (p.Glu1527Gln)
|
rs1568468148
|
|
NM_001127222.2(CACNA1A):c.4590+13A>C
|
|
|
NM_001127222.2(CACNA1A):c.4590+19T>C
|
|
|
NM_001127222.2(CACNA1A):c.4590+5C>G
|
|
|
NM_001127222.2(CACNA1A):c.4590+6A>G
|
|
|
NM_001127222.2(CACNA1A):c.4591-12TC[2]
|
|
|
NM_001127222.2(CACNA1A):c.4591-14C>G
|
|
|
NM_001127222.2(CACNA1A):c.4591-17T>C
|
|
|
NM_001127222.2(CACNA1A):c.4591-18C>G
|
|
|
NM_001127222.2(CACNA1A):c.4591-2A>G
|
rs1600180659
|
|
NM_001127222.2(CACNA1A):c.4591-5C>A
|
|
|
NM_001127222.2(CACNA1A):c.4591-5del
|
rs2056515046
|
|
NM_001127222.2(CACNA1A):c.4592G>A (p.Arg1531Lys)
|
rs2144735318
|
|
NM_001127222.2(CACNA1A):c.4599C>A (p.Cys1533Ter)
|
rs2144735303
|
|
NM_001127222.2(CACNA1A):c.4605T>G (p.Asp1535Glu)
|
|
|
NM_001127222.2(CACNA1A):c.4609G>T (p.Ala1537Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4612A>C (p.Ile1538Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4612A>G (p.Ile1538Val)
|
|
|
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.4634G>A (p.Arg1545Gln)
|
rs775048630
|
|
NM_001127222.2(CACNA1A):c.4634G>T (p.Arg1545Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4636C>T (p.His1546Tyr)
|
rs2144735184
|
|
NM_001127222.2(CACNA1A):c.4639A>G (p.Met1547Val)
|
|
|
NM_001127222.2(CACNA1A):c.4639A>T (p.Met1547Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4643C>T (p.Pro1548Leu)
|
rs1275097177
|
|
NM_001127222.2(CACNA1A):c.4647G>A (p.Gln1549=)
|
rs2144735110
|
|
NM_001127222.2(CACNA1A):c.4654C>G (p.Gln1552Glu)
|
|
|
NM_001127222.2(CACNA1A):c.4663C>T (p.Gln1555Ter)
|
rs1600180457
|
|
NM_001127222.2(CACNA1A):c.4669C>T (p.Arg1557Cys)
|
|
|
NM_001127222.2(CACNA1A):c.467G>T (p.Gly156Val)
|
|
|
NM_001127222.2(CACNA1A):c.4683C>G (p.Phe1561Leu)
|
rs377082780
|
|
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.4687G>T (p.Val1563Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4693C>G (p.Pro1565Ala)
|
|
|
NM_001127222.2(CACNA1A):c.4694C>T (p.Pro1565Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4694dup (p.Pro1566fs)
|
rs1600180395
|
|
NM_001127222.2(CACNA1A):c.4701C>T (p.Phe1567=)
|
|
|
NM_001127222.2(CACNA1A):c.4702G>A (p.Glu1568Lys)
|
|
|
NM_001127222.2(CACNA1A):c.4708A>T (p.Thr1570Ser)
|
rs750368591
|
|
NM_001127222.2(CACNA1A):c.470T>C (p.Phe157Ser)
|
|
|
NM_001127222.2(CACNA1A):c.4710G>T (p.Thr1570=)
|
rs761547761
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
NM_001127222.2(CACNA1A):c.4716G>A (p.Met1572Ile)
|
|
|
NM_001127222.2(CACNA1A):c.471dup (p.Ala158fs)
|
rs1599289383
|
|
NM_001127222.2(CACNA1A):c.4720A>G (p.Met1574Val)
|
rs1555743201
|
|
NM_001127222.2(CACNA1A):c.4726G>A (p.Ala1576Thr)
|
rs2056510591
|
|
NM_001127222.2(CACNA1A):c.4738A>G (p.Ile1580Val)
|
|
|
NM_001127222.2(CACNA1A):c.4740C>T (p.Ile1580=)
|
rs1415212677
|
|
NM_001127222.2(CACNA1A):c.4741G>A (p.Val1581Met)
|
|
|
NM_001127222.2(CACNA1A):c.4747A>C (p.Met1583Leu)
|
|
|
NM_001127222.2(CACNA1A):c.4748TGA[1] (p.Met1584del)
|
|
|
NM_001127222.2(CACNA1A):c.4755+20C>T
|
|
|
NM_001127222.2(CACNA1A):c.4756-12T>G
|
|
|
NM_001127222.2(CACNA1A):c.4756-15G>A
|
|
|
NM_001127222.2(CACNA1A):c.4756-216del
|
rs34069029
|
|
NM_001127222.2(CACNA1A):c.4756-4del
|
rs752161961
|
|
NM_001127222.2(CACNA1A):c.4756-7C>T
|
|
|
NM_001127222.2(CACNA1A):c.4758C>A (p.Phe1586Leu)
|
rs2056445437
|
|
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.4791G>A (p.Leu1597=)
|
rs2144726178
|
|
NM_001127222.2(CACNA1A):c.4792C>T (p.Arg1598Trp)
|
|
|
NM_001127222.2(CACNA1A):c.4795del (p.Val1599fs)
|
rs2144726142
|
|
NM_001127222.2(CACNA1A):c.4797G>A (p.Val1599=)
|
|
|
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val)
|
rs2056444576
|
|
NM_001127222.2(CACNA1A):c.4805T>C (p.Ile1602Thr)
|
rs2056444494
|
|
NM_001127222.2(CACNA1A):c.4807G>T (p.Val1603Phe)
|
|
|
NM_001127222.2(CACNA1A):c.480C>T (p.His160=)
|
|
|
NM_001127222.2(CACNA1A):c.4827T>G (p.Ser1609=)
|
|
|
NM_001127222.2(CACNA1A):c.4828_4829del (p.Leu1610fs)
|
rs2056443833
|
|
NM_001127222.2(CACNA1A):c.4836T>C (p.Cys1612=)
|
rs781413708
|
|
NM_001127222.2(CACNA1A):c.4836T>G (p.Cys1612Trp)
|
rs781413708
|
|
NM_001127222.2(CACNA1A):c.4842del (p.Val1616fs)
|
rs587776695
|
|
NM_001127222.2(CACNA1A):c.4843A>G (p.Lys1615Glu)
|
rs2056443467
|
|
NM_001127222.2(CACNA1A):c.4847T>C (p.Val1616Ala)
|
|
|
NM_001127222.2(CACNA1A):c.485G>T (p.Gly162Val)
|
|
|
NM_001127222.2(CACNA1A):c.4860G>A (p.Gly1620=)
|
rs2144725963
|
|
NM_001127222.2(CACNA1A):c.4866+11C>T
|
|
|
NM_001127222.2(CACNA1A):c.4866+18G>T
|
|
|
NM_001127222.2(CACNA1A):c.4866+19C>G
|
|
|
NM_001127222.2(CACNA1A):c.4866+1G>T
|
rs2144725957
|
|
NM_001127222.2(CACNA1A):c.4867-11C>A
|
|
|
NM_001127222.2(CACNA1A):c.4867-13G>T
|
|
|
NM_001127222.2(CACNA1A):c.4867-18T>C
|
rs2144692214
|
|
NM_001127222.2(CACNA1A):c.4867-6T>G
|
rs2056196120
|
|
NM_001127222.2(CACNA1A):c.4867-7A>C
|
|
|
NM_001127222.2(CACNA1A):c.4867-7dup
|
rs2056196193
|
|
NM_001127222.2(CACNA1A):c.4867-8C>T
|
rs1057522362
|
|
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.4881T>C (p.Asp1627=)
|
rs558064032
|
|
NM_001127222.2(CACNA1A):c.488C>T (p.Ser163Phe)
|
rs1555789107
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
NM_001127222.2(CACNA1A):c.4899C>G (p.Asp1633Glu)
|
rs2144692015
|
|
NM_001127222.2(CACNA1A):c.4902T>C (p.Phe1634=)
|
|
|
NM_001127222.2(CACNA1A):c.4908T>C (p.Thr1636=)
|
|
|
NM_001127222.2(CACNA1A):c.4916G>A (p.Gly1639Asp)
|
rs2144691967
|
|
NM_001127222.2(CACNA1A):c.4917C>T (p.Gly1639=)
|
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.492C>G (p.Tyr164Ter)
|
|
|
NM_001127222.2(CACNA1A):c.492C>T (p.Tyr164=)
|
|
|
NM_001127222.2(CACNA1A):c.492del (p.Tyr164_Leu165insTer)
|
|
|
NM_001127222.2(CACNA1A):c.4938G>T (p.Val1646=)
|
|
|
NM_001127222.2(CACNA1A):c.493T>C (p.Leu165=)
|
rs2144936227
|
|
NM_001127222.2(CACNA1A):c.4941T>A (p.Thr1647=)
|
|
|
NM_001127222.2(CACNA1A):c.4941dup (p.Glu1648Ter)
|
rs2056193902
|
|
NM_001127222.2(CACNA1A):c.4942G>C (p.Glu1648Gln)
|
rs1417421667
|
|
NM_001127222.2(CACNA1A):c.4950+12T>C
|
|
|
NM_001127222.2(CACNA1A):c.4950+15A>C
|
rs755685706
|
|
NM_001127222.2(CACNA1A):c.4950+15A>G
|
rs755685706
|
|
NM_001127222.2(CACNA1A):c.4950+16G>T
|
|
|
NM_001127222.2(CACNA1A):c.4950+1G>T
|
rs1568457080
|
|
NM_001127222.2(CACNA1A):c.4950+20C>T
|
|
|
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.4951-10A>C
|
rs2055852187
|
|
NM_001127222.2(CACNA1A):c.4951-3del
|
rs1600140005
|
|
NM_001127222.2(CACNA1A):c.4951-5C>A
|
|
|
NM_001127222.2(CACNA1A):c.4951A>G (p.Asn1651Asp)
|
|
|
NM_001127222.2(CACNA1A):c.4956C>T (p.Asn1652=)
|
|
|
NM_001127222.2(CACNA1A):c.4970G>T (p.Ser1657Ile)
|
|
|
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.4991C>G (p.Ala1664Gly)
|
|
|
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.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.4998G>T (p.Arg1666=)
|
|
|
NM_001127222.2(CACNA1A):c.4999C>T (p.Leu1667Phe)
|
rs2144649806
|
|
NM_001127222.2(CACNA1A):c.4G>T (p.Ala2Ser)
|
rs2145193160
|
|
NM_001127222.2(CACNA1A):c.5000del (p.Leu1667fs)
|
|
|
NM_001127222.2(CACNA1A):c.5001C>T (p.Leu1667=)
|
rs755424786
|
|
NM_001127222.2(CACNA1A):c.5009T>G (p.Leu1670Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)
|
rs2144649756
|
|
NM_001127222.2(CACNA1A):c.5018A>G (p.Gln1673Arg)
|
rs2055850287
|
|
NM_001127222.2(CACNA1A):c.5021G>A (p.Gly1674Asp)
|
rs895744093
|
|
NM_001127222.2(CACNA1A):c.5021G>T (p.Gly1674Val)
|
|
|
NM_001127222.2(CACNA1A):c.5021del (p.Gly1674fs)
|
|
|
NM_001127222.2(CACNA1A):c.5029A>G (p.Ile1677Val)
|
rs766623973
|
|
NM_001127222.2(CACNA1A):c.502G>A (p.Gly168Ser)
|
rs2144936186
|
|
NM_001127222.2(CACNA1A):c.5031C>A (p.Ile1677=)
|
rs1555738339
|
|
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
|
|
|
NM_001127222.2(CACNA1A):c.5044T>C (p.Trp1682Arg)
|
rs121908221
|
|
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.5051T>C (p.Phe1684Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met)
|
rs1442400930
|
|
NM_001127222.2(CACNA1A):c.5056C>T (p.Gln1686Ter)
|
rs1600139781
|
|
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg)
|
rs2055848608
|
|
NM_001127222.2(CACNA1A):c.5058G>C (p.Gln1686His)
|
|
|
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)
|
rs1568447557
|
|
NM_001127222.2(CACNA1A):c.5067+10C>G
|
rs549805937
|
|
NM_001127222.2(CACNA1A):c.5067+20G>C
|
|
|
NM_001127222.2(CACNA1A):c.5068-10T>C
|
|
|
NM_001127222.2(CACNA1A):c.5068-19T>C
|
|
|
NM_001127222.2(CACNA1A):c.5068-1G>A
|
rs2144648058
|
|
NM_001127222.2(CACNA1A):c.5068-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.5068-49C>T
|
rs373831178
|
|
NM_001127222.2(CACNA1A):c.5068-6dup
|
|
|
NM_001127222.2(CACNA1A):c.5068G>A (p.Ala1690Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln)
|
rs2055835744
|
|
NM_001127222.2(CACNA1A):c.5077T>C (p.Tyr1693His)
|
|
|
NM_001127222.2(CACNA1A):c.5079T>C (p.Tyr1693=)
|
|
|
NM_001127222.2(CACNA1A):c.507G>A (p.Trp169Ter)
|
rs2144936148
|
|
NM_001127222.2(CACNA1A):c.5080G>A (p.Val1694Ile)
|
rs121908224
|
|
NM_001127222.2(CACNA1A):c.5080G>T (p.Val1694Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5089dup (p.Leu1697fs)
|
|
|
NM_001127222.2(CACNA1A):c.5095G>C (p.Ala1699Pro)
|
rs371273055
|
|
NM_001127222.2(CACNA1A):c.5098A>G (p.Met1700Val)
|
|
|
NM_001127222.2(CACNA1A):c.50C>G (p.Ser17Cys)
|
rs931963287
|
|
NM_001127222.2(CACNA1A):c.5104T>C (p.Phe1702Leu)
|
rs2055834394
|
|
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del)
|
rs2144647916
|
|
NM_001127222.2(CACNA1A):c.5106C>T (p.Phe1702=)
|
|
|
NM_001127222.2(CACNA1A):c.5112C>T (p.Ile1704=)
|
rs1057521708
|
|
NM_001127222.2(CACNA1A):c.5115T>G (p.Tyr1705Ter)
|
rs1600139005
|
|
NM_001127222.2(CACNA1A):c.5117C>T (p.Ala1706Val)
|
|
|
NM_001127222.2(CACNA1A):c.5118C>T (p.Ala1706=)
|
rs2144647886
|
|
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)
|
rs2144647872
|
|
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)
|
rs2144647855
|
|
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.5127G>A (p.Gly1709=)
|
|
|
NM_001127222.2(CACNA1A):c.512T>A (p.Val171Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5131C>A (p.Gln1711Lys)
|
rs1064795751
|
|
NM_001127222.2(CACNA1A):c.5133+2T>A
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.5133+3G>C
|
rs1320790447
|
|
NM_001127222.2(CACNA1A):c.5133+5G>A
|
rs2144647781
|
|
NM_001127222.2(CACNA1A):c.5133+9C>T
|
|
|
NM_001127222.2(CACNA1A):c.5134-2A>C
|
|
|
NM_001127222.2(CACNA1A):c.5134-2del
|
|
|
NM_001127222.2(CACNA1A):c.5139T>A (p.Phe1713Leu)
|
rs2144646945
|
|
NM_001127222.2(CACNA1A):c.5140G>C (p.Gly1714Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5141G>A (p.Gly1714Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5152A>T (p.Ile1718Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5154C>G (p.Ile1718Met)
|
|
|
NM_001127222.2(CACNA1A):c.5159T>A (p.Val1720Glu)
|
|
|
NM_001127222.2(CACNA1A):c.5162A>G (p.Glu1721Gly)
|
rs1273682125
|
|
NM_001127222.2(CACNA1A):c.5163G>A (p.Glu1721=)
|
rs776192705
|
|
NM_001127222.2(CACNA1A):c.5165A>G (p.Asp1722Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5167G>A (p.Glu1723Lys)
|
rs931067957
|
|
NM_001127222.2(CACNA1A):c.5171A>G (p.Asp1724Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5182G>A (p.Asp1728Asn)
|
rs1436816057
|
|
NM_001127222.2(CACNA1A):c.5188T>C (p.Phe1730Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5198C>T (p.Thr1733Ile)
|
rs2144646721
|
|
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)
|
rs2144936093
|
|
NM_001127222.2(CACNA1A):c.51del (p.Ala19fs)
|
|
|
NM_001127222.2(CACNA1A):c.5204A>T (p.His1735Leu)
|
rs121908229
|
|
NM_001127222.2(CACNA1A):c.5205C>T (p.His1735=)
|
rs1057523955
|
|
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.5216G>C (p.Arg1739Pro)
|
|
|
NM_001127222.2(CACNA1A):c.522T>C (p.Phe174=)
|
|
|
NM_001127222.2(CACNA1A):c.5232C>A (p.Ala1744=)
|
rs1600138370
|
|
NM_001127222.2(CACNA1A):c.5233C>T (p.Leu1745Phe)
|
rs2055823924
|
|
NM_001127222.2(CACNA1A):c.5236A>G (p.Met1746Val)
|
|
|
NM_001127222.2(CACNA1A):c.5238G>C (p.Met1746Ile)
|
rs1210283621
|
|
NM_001127222.2(CACNA1A):c.5238dup (p.Leu1747fs)
|
|
|
NM_001127222.2(CACNA1A):c.523G>A (p.Val175Met)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>A (p.Arg1750=)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>G (p.Arg1750Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5248C>T (p.Arg1750Trp)
|
rs1568446845
|
|
NM_001127222.2(CACNA1A):c.5249+13C>A
|
|
|
NM_001127222.2(CACNA1A):c.5249+14C>T
|
|
|
NM_001127222.2(CACNA1A):c.5249+165_5249+189del
|
rs202051301
|
|
NM_001127222.2(CACNA1A):c.5249+19C>T
|
|
|
NM_001127222.2(CACNA1A):c.5249+7A>C
|
rs1600138314
|
|
NM_001127222.2(CACNA1A):c.5249G>A (p.Arg1750Gln)
|
rs781588570
|
|
NM_001127222.2(CACNA1A):c.5249G>C (p.Arg1750Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5250-2A>G
|
|
|
NM_001127222.2(CACNA1A):c.5250-3C>G
|
|
|
NM_001127222.2(CACNA1A):c.5251A>C (p.Ser1751Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5253T>G (p.Ser1751Arg)
|
rs2144629875
|
|
NM_001127222.2(CACNA1A):c.5258C>G (p.Thr1753Ser)
|
|
|
NM_001127222.2(CACNA1A):c.525G>C (p.Val175=)
|
rs1231813346
|
|
NM_001127222.2(CACNA1A):c.5260G>A (p.Gly1754Arg)
|
rs1555737113
|
|
NM_001127222.2(CACNA1A):c.5262G>A (p.Gly1754=)
|
|
|
NM_001127222.2(CACNA1A):c.5263G>A (p.Glu1755Lys)
|
rs121908226
|
|
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
|
|
|
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.5273ACA[1] (p.Asn1759del)
|
rs2055675454
|
|
NM_001127222.2(CACNA1A):c.5295C>T (p.Leu1765=)
|
|
|
NM_001127222.2(CACNA1A):c.529G>T (p.Val177Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5306C>T (p.Pro1769Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5307G>A (p.Pro1769=)
|
|
|
NM_001127222.2(CACNA1A):c.5328C>G (p.Ile1776Met)
|
|
|
NM_001127222.2(CACNA1A):c.532C>G (p.Leu178Val)
|
|
|
NM_001127222.2(CACNA1A):c.5335C>A (p.Arg1779=)
|
rs2144629622
|
|
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.5348A>G (p.Asn1783Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5356G>T (p.Ala1786Ser)
|
|
|
NM_001127222.2(CACNA1A):c.537G>A (p.Thr179=)
|
|
|
NM_001127222.2(CACNA1A):c.538G>T (p.Gly180Cys)
|
rs2144935933
|
|
NM_001127222.2(CACNA1A):c.539+12G>C
|
|
|
NM_001127222.2(CACNA1A):c.539+14G>A
|
rs1057523199
|
|
NM_001127222.2(CACNA1A):c.539+18T>A
|
|
|
NM_001127222.2(CACNA1A):c.539+8G>A
|
rs372925573
|
|
NM_001127222.2(CACNA1A):c.539+9C>A
|
rs369146237
|
|
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.540-13T>C
|
|
|
NM_001127222.2(CACNA1A):c.540-1G>C
|
rs2144559526
|
|
NM_001127222.2(CACNA1A):c.540-6_540-3del
|
|
|
NM_001127222.2(CACNA1A):c.5400+17T>C
|
|
|
NM_001127222.2(CACNA1A):c.5400+2T>C
|
rs1057519197
|
|
NM_001127222.2(CACNA1A):c.5401-10G>T
|
rs370129945
|
|
NM_001127222.2(CACNA1A):c.5401-13G>A
|
rs2144622540
|
|
NM_001127222.2(CACNA1A):c.5401-18T>C
|
|
|
NM_001127222.2(CACNA1A):c.5401-9T>A
|
|
|
NM_001127222.2(CACNA1A):c.5406G>A (p.Leu1802=)
|
|
|
NM_001127222.2(CACNA1A):c.5408A>C (p.Asn1803Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5408dup (p.Asn1803fs)
|
rs2144622488
|
|
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
|
|
|
NM_001127222.2(CACNA1A):c.5415T>C (p.Phe1805=)
|
rs1057523399
|
|
NM_001127222.2(CACNA1A):c.5416G>A (p.Val1806Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)
|
rs2144622461
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu)
|
rs121908214
|
|
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
|
|
|
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)
|
rs2055612479
|
|
NM_001127222.2(CACNA1A):c.5439T>G (p.Phe1813Leu)
|
rs1600127242
|
|
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)
|
rs2055612253
|
|
NM_001127222.2(CACNA1A):c.5452C>G (p.Arg1818Gly)
|
rs267606696
|
|
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.5458T>C (p.Ser1820Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5460C>T (p.Ser1820=)
|
|
|
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.5472C>A (p.Gly1824=)
|
rs1804930573
|
|
NM_001127222.2(CACNA1A):c.5473C>T (p.Pro1825Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5476del (p.His1826fs)
|
rs1600127096
|
|
NM_001127222.2(CACNA1A):c.5477A>G (p.His1826Arg)
|
rs2055610097
|
|
NM_001127222.2(CACNA1A):c.5477dup (p.His1826fs)
|
rs2144622191
|
|
NM_001127222.2(CACNA1A):c.5479C>G (p.His1827Asp)
|
rs1064795658
|
|
NM_001127222.2(CACNA1A):c.547G>A (p.Ala183Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5484G>A (p.Leu1828=)
|
rs2055609637
|
|
NM_001127222.2(CACNA1A):c.5488G>A (p.Glu1830Lys)
|
rs746886324
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
NM_001127222.2(CACNA1A):c.5494G>A (p.Val1832Met)
|
|
|
NM_001127222.2(CACNA1A):c.5498G>A (p.Arg1833His)
|
|
|
NM_001127222.2(CACNA1A):c.5498G>C (p.Arg1833Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5506G>A (p.Ala1836Thr)
|
|
|
NM_001127222.2(CACNA1A):c.5509G>A (p.Glu1837Lys)
|
rs1408989522
|
|
NM_001127222.2(CACNA1A):c.5511G>C (p.Glu1837Asp)
|
rs1348448383
|
|
NM_001127222.2(CACNA1A):c.5515G>T (p.Asp1839Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.5517C>A (p.Asp1839Glu)
|
rs372083869
|
|
NM_001127222.2(CACNA1A):c.5521G>C (p.Ala1841Pro)
|
rs753229469
|
|
NM_001127222.2(CACNA1A):c.5528+1019del
|
rs61098915
|
|
NM_001127222.2(CACNA1A):c.5528+1206C>G
|
rs78385489
|
|
NM_001127222.2(CACNA1A):c.5528+1270C>A
|
|
|
NM_001127222.2(CACNA1A):c.5528+12C>T
|
|
|
NM_001127222.2(CACNA1A):c.5528+15C>A
|
|
|
NM_001127222.2(CACNA1A):c.5528+17A>C
|
|
|
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.5529-1152C>T
|
rs1425881157
|
|
NM_001127222.2(CACNA1A):c.5529-1153C>T
|
rs1600124141
|
|
NM_001127222.2(CACNA1A):c.5529-1171G>A
|
rs1555736262
|
|
NM_001127222.2(CACNA1A):c.5529-1180G>A
|
rs2055560379
|
|
NM_001127222.2(CACNA1A):c.5529-1185G>C
|
|
|
NM_001127222.2(CACNA1A):c.5529-1187T>C
|
rs201292159
|
|
NM_001127222.2(CACNA1A):c.5529-1189C>T
|
rs2055560659
|
|
NM_001127222.2(CACNA1A):c.5529-1191C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1195T>C
|
rs121908244
|
|
NM_001127222.2(CACNA1A):c.5529-1204G>A
|
rs2144616611
|
|
NM_001127222.2(CACNA1A):c.5529-1210G>A
|
rs1001063428
|
|
NM_001127222.2(CACNA1A):c.5529-1211C>T
|
rs1266486228
|
|
NM_001127222.2(CACNA1A):c.5529-1212_5529-1211del
|
rs1431092862
|
|
NM_001127222.2(CACNA1A):c.5529-1214del
|
rs2144616676
|
|
NM_001127222.2(CACNA1A):c.5529-1215C>G
|
|
|
NM_001127222.2(CACNA1A):c.5529-1215C>T
|
rs2144616690
|
|
NM_001127222.2(CACNA1A):c.5529-1216C>T
|
rs1057518533
|
|
NM_001127222.2(CACNA1A):c.5529-1217C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1218C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1219C>A
|
|
|
NM_001127222.2(CACNA1A):c.5529-1225A>G
|
rs1432354078
|
|
NM_001127222.2(CACNA1A):c.5529-1230G>A
|
rs1246077018
|
|
NM_001127222.2(CACNA1A):c.5529-1231C>G
|
|
|
NM_001127222.2(CACNA1A):c.5529-1231C>T
|
rs1296262946
|
|
NM_001127222.2(CACNA1A):c.5529-1233T>C
|
rs2055562308
|
|
NM_001127222.2(CACNA1A):c.5529-1240A>G
|
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
NM_001127222.2(CACNA1A):c.5529-1246A>G
|
rs2144616837
|
|
NM_001127222.2(CACNA1A):c.5529-1248A>G
|
rs2055563143
|
|
NM_001127222.2(CACNA1A):c.5529-1249G>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1254A>T
|
rs1568440462
|
|
NM_001127222.2(CACNA1A):c.5529-1257A>G
|
rs2144616863
|
|
NM_001127222.2(CACNA1A):c.5529-1262G>T
|
rs1600124326
|
|
NM_001127222.2(CACNA1A):c.5529-1263G>A
|
rs770936656
|
|
NM_001127222.2(CACNA1A):c.5529-1263G>T
|
rs770936656
|
|
NM_001127222.2(CACNA1A):c.5529-1264C>T
|
|
|
NM_001127222.2(CACNA1A):c.5529-1268C>A
|
rs765557914
|
|
NM_001127222.2(CACNA1A):c.5529-1270A>G
|
|
|
NM_001127222.2(CACNA1A):c.5529-1272T>G
|
rs2144616954
|
|
NM_001127222.2(CACNA1A):c.5529-1276_5529-1274del
|
rs1436224214
|
|
NM_001127222.2(CACNA1A):c.5529-1277T>C
|
|
|
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.5531G>A (p.Gly1844Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5534G>A (p.Arg1845His)
|
|
|
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.5626-11G>T
|
rs2055373094
|
|
NM_001127222.2(CACNA1A):c.5626-12G>T
|
|
|
NM_001127222.2(CACNA1A):c.5626-5T>C
|
|
|
NM_001127222.2(CACNA1A):c.5626C>T (p.Arg1876Trp)
|
|
|
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.5637del (p.Met1880fs)
|
rs1600114562
|
|
NM_001127222.2(CACNA1A):c.5638A>C (p.Met1880Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5642_5692del (p.Asp1881_Met1897del)
|
|
|
NM_001127222.2(CACNA1A):c.5644C>T (p.Leu1882=)
|
|
|
NM_001127222.2(CACNA1A):c.5645T>C (p.Leu1882Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5649C>T (p.Pro1883=)
|
|
|
NM_001127222.2(CACNA1A):c.564G>A (p.Glu188=)
|
|
|
NM_001127222.2(CACNA1A):c.5651T>A (p.Val1884Asp)
|
rs2144595194
|
|
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.5667C>T (p.Thr1889=)
|
rs750667873
|
|
NM_001127222.2(CACNA1A):c.5670C>T (p.Val1890=)
|
rs1044642598
|
|
NM_001127222.2(CACNA1A):c.5678A>G (p.Asn1893Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=)
|
rs757291476
|
|
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg)
|
rs2144595037
|
|
NM_001127222.2(CACNA1A):c.5695C>G (p.Leu1899Val)
|
rs2055369392
|
|
NM_001127222.2(CACNA1A):c.5696T>C (p.Leu1899Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5698A>G (p.Ile1900Val)
|
|
|
NM_001127222.2(CACNA1A):c.56C>A (p.Ala19Glu)
|
|
|
NM_001127222.2(CACNA1A):c.5700C>G (p.Ile1900Met)
|
|
|
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His)
|
rs2144595024
|
|
NM_001127222.2(CACNA1A):c.5703C>A (p.Arg1901=)
|
rs1600114408
|
|
NM_001127222.2(CACNA1A):c.5703C>T (p.Arg1901=)
|
|
|
NM_001127222.2(CACNA1A):c.571_578delinsGAACT (p.Leu191_Thr193delinsGluLeu)
|
rs1064795173
|
|
NM_001127222.2(CACNA1A):c.5720A>G (p.Lys1907Arg)
|
rs2144594984
|
|
NM_001127222.2(CACNA1A):c.5731+11G>A
|
|
|
NM_001127222.2(CACNA1A):c.5731+162dup
|
rs71168691
|
|
NM_001127222.2(CACNA1A):c.5731+178_5731+180del
|
rs71168691
|
|
NM_001127222.2(CACNA1A):c.5731+18G>A
|
|
|
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.5732-11C>T
|
|
|
NM_001127222.2(CACNA1A):c.5732-12C>A
|
|
|
NM_001127222.2(CACNA1A):c.5732-19G>A
|
|
|
NM_001127222.2(CACNA1A):c.5732-39del
|
rs559922012
|
|
NM_001127222.2(CACNA1A):c.5732-7A>G
|
|
|
NM_001127222.2(CACNA1A):c.5732-9C>T
|
|
|
NM_001127222.2(CACNA1A):c.5733A>G (p.Gly1911=)
|
rs758357771
|
|
NM_001127222.2(CACNA1A):c.5733A>T (p.Gly1911=)
|
|
|
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu)
|
rs2054931821
|
|
NM_001127222.2(CACNA1A):c.5741A>G (p.Asp1914Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5749C>A (p.Gln1917Lys)
|
|
|
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.5771A>C (p.Lys1924Thr)
|
rs1181667215
|
|
NM_001127222.2(CACNA1A):c.5775G>A (p.Glu1925=)
|
rs2144537672
|
|
NM_001127222.2(CACNA1A):c.5778G>A (p.Met1926Ile)
|
rs1252683687
|
|
NM_001127222.2(CACNA1A):c.5779A>T (p.Met1927Leu)
|
rs775982911
|
|
NM_001127222.2(CACNA1A):c.5780_5783dup (p.Ile1929fs)
|
|
|
NM_001127222.2(CACNA1A):c.5794A>G (p.Asn1932Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5803C>A (p.Gln1935Lys)
|
rs2144537491
|
|
NM_001127222.2(CACNA1A):c.5809A>T (p.Thr1937Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5814A>T (p.Leu1938=)
|
rs1001682236
|
|
NM_001127222.2(CACNA1A):c.581T>C (p.Leu194Pro)
|
|
|
NM_001127222.2(CACNA1A):c.5820G>A (p.Leu1940=)
|
|
|
NM_001127222.2(CACNA1A):c.5821C>T (p.Leu1941=)
|
rs2144537393
|
|
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>C
|
rs951196653
|
|
NM_001127222.2(CACNA1A):c.5839+1G>T
|
rs951196653
|
|
NM_001127222.2(CACNA1A):c.5839+20C>T
|
rs2144537107
|
|
NM_001127222.2(CACNA1A):c.5839+6A>C
|
rs2144537255
|
|
NM_001127222.2(CACNA1A):c.5839+7G>A
|
rs1568426023
|
|
NM_001127222.2(CACNA1A):c.5839+9T>G
|
|
|
NM_001127222.2(CACNA1A):c.5840-12G>T
|
|
|
NM_001127222.2(CACNA1A):c.5840-15TG[3]
|
|
|
NM_001127222.2(CACNA1A):c.5840-15TG[5]
|
rs772598066
|
|
NM_001127222.2(CACNA1A):c.5840-17C>A
|
rs556502230
|
|
NM_001127222.2(CACNA1A):c.5840-17C>T
|
rs556502230
|
|
NM_001127222.2(CACNA1A):c.5840-19A>G
|
|
|
NM_001127222.2(CACNA1A):c.5840-2A>G
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.5840-2A>T
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.5840-3C>A
|
|
|
NM_001127222.2(CACNA1A):c.5840-82C>G
|
rs17846925
|
|
NM_001127222.2(CACNA1A):c.5840-8G>A
|
rs2054921364
|
|
NM_001127222.2(CACNA1A):c.584G>A (p.Arg195Lys)
|
rs121908222
|
|
NM_001127222.2(CACNA1A):c.5857G>A (p.Gly1953Arg)
|
rs2144536064
|
|
NM_001127222.2(CACNA1A):c.5859dup (p.Lys1954fs)
|
rs2144536044
|
|
NM_001127222.2(CACNA1A):c.5861A>G (p.Lys1954Arg)
|
|
|
NM_001127222.2(CACNA1A):c.5865C>A (p.Ile1955=)
|
|
|
NM_001127222.2(CACNA1A):c.5869G>A (p.Ala1957Thr)
|
rs1217161285
|
|
NM_001127222.2(CACNA1A):c.5874C>T (p.Ala1958=)
|
rs2054919743
|
|
NM_001127222.2(CACNA1A):c.5875A>G (p.Met1959Val)
|
|
|
NM_001127222.2(CACNA1A):c.5876T>C (p.Met1959Thr)
|
rs763611434
|
|
NM_001127222.2(CACNA1A):c.5879T>A (p.Met1960Lys)
|
|
|
NM_001127222.2(CACNA1A):c.5880G>A (p.Met1960Ile)
|
rs1085307557
|
|
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs)
|
|
|
NM_001127222.2(CACNA1A):c.588A>G (p.Ala196=)
|
rs1301991287
|
|
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.5904C>T (p.Ser1968=)
|
rs761152800
|
|
NM_001127222.2(CACNA1A):c.5907G>A (p.Lys1969=)
|
rs1364247722
|
|
NM_001127222.2(CACNA1A):c.5913G>A (p.Lys1971=)
|
rs990134708
|
|
NM_001127222.2(CACNA1A):c.5924C>A (p.Ala1975Asp)
|
|
|
NM_001127222.2(CACNA1A):c.5929C>T (p.Arg1977Cys)
|
|
|
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.5936A>C (p.Glu1979Ala)
|
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.5940+14C>A
|
rs374115419
|
|
NM_001127222.2(CACNA1A):c.5940+15G>A
|
rs370364972
|
|
NM_001127222.2(CACNA1A):c.5940+15G>C
|
rs370364972
|
|
NM_001127222.2(CACNA1A):c.5940+18C>G
|
rs1057522421
|
|
NM_001127222.2(CACNA1A):c.5940+1G>A
|
rs2144535495
|
|
NM_001127222.2(CACNA1A):c.5940+6C>T
|
rs909499550
|
|
NM_001127222.2(CACNA1A):c.5940+8G>C
|
|
|
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.5941-10C>A
|
|
|
NM_001127222.2(CACNA1A):c.5941-12C>T
|
|
|
NM_001127222.2(CACNA1A):c.5941-2A>G
|
rs1555731992
|
|
NM_001127222.2(CACNA1A):c.5941-5C>G
|
|
|
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.5952C>A (p.Pro1984=)
|
rs1600090248
|
|
NM_001127222.2(CACNA1A):c.5953C>A (p.Leu1985Ile)
|
|
|
NM_001127222.2(CACNA1A):c.5953C>G (p.Leu1985Val)
|
|
|
NM_001127222.2(CACNA1A):c.5955C>A (p.Leu1985=)
|
rs2054861464
|
|
NM_001127222.2(CACNA1A):c.5957T>C (p.Met1986Thr)
|
rs2144526659
|
|
NM_001127222.2(CACNA1A):c.5961C>T (p.Phe1987=)
|
|
|
NM_001127222.2(CACNA1A):c.5962C>T (p.Gln1988Ter)
|
|
|
NM_001127222.2(CACNA1A):c.5964G>C (p.Gln1988His)
|
|
|
NM_001127222.2(CACNA1A):c.5967C>G (p.Arg1989=)
|
rs2144526589
|
|
NM_001127222.2(CACNA1A):c.596T>C (p.Val199Ala)
|
|
|
NM_001127222.2(CACNA1A):c.5971G>C (p.Glu1991Gln)
|
rs2054860673
|
|
NM_001127222.2(CACNA1A):c.5976C>G (p.Pro1992=)
|
|
|
NM_001127222.2(CACNA1A):c.5978C>T (p.Pro1993Leu)
|
|
|
NM_001127222.2(CACNA1A):c.5984C>T (p.Pro1995Leu)
|
rs1568424203
|
|
NM_001127222.2(CACNA1A):c.5988G>A (p.Thr1996=)
|
rs17846933
|
|
NM_001127222.2(CACNA1A):c.5988G>C (p.Thr1996=)
|
|
|
NM_001127222.2(CACNA1A):c.5994A>C (p.Glu1998Asp)
|
rs16045
|
|
NM_001127222.2(CACNA1A):c.5994_5996dup (p.Gly2000dup)
|
rs2054858852
|
|
NM_001127222.2(CACNA1A):c.5995G>C (p.Gly1999Arg)
|
|
|
NM_001127222.2(CACNA1A):c.59C>T (p.Ala20Val)
|
|
|
NM_001127222.2(CACNA1A):c.6000A>G (p.Gly2000=)
|
|
|
NM_001127222.2(CACNA1A):c.6004G>A (p.Gly2002Ser)
|
rs1568424111
|
|
NM_001127222.2(CACNA1A):c.601C>T (p.Arg201Trp)
|
rs2144559282
|
|
NM_001127222.2(CACNA1A):c.6025A>C (p.Thr2009Pro)
|
|
|
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.6035A>G (p.Asp2012Gly)
|
rs2144526083
|
|
NM_001127222.2(CACNA1A):c.6043G>T (p.Gly2015Ter)
|
rs746848153
|
|
NM_001127222.2(CACNA1A):c.6046G>A (p.Ala2016Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6050+14del
|
rs755362952
|
|
NM_001127222.2(CACNA1A):c.6050+15T>C
|
rs2144525883
|
|
NM_001127222.2(CACNA1A):c.6050+4_6050+7del
|
rs2054856814
|
|
NM_001127222.2(CACNA1A):c.6051-11C>T
|
rs759586410
|
|
NM_001127222.2(CACNA1A):c.6051-13del
|
rs2144525353
|
|
NM_001127222.2(CACNA1A):c.6051-16del
|
rs2144525359
|
|
NM_001127222.2(CACNA1A):c.6051-18C>T
|
rs2144525399
|
|
NM_001127222.2(CACNA1A):c.6051-1G>A
|
rs2144525222
|
|
NM_001127222.2(CACNA1A):c.6051-3C>A
|
rs1318280840
|
|
NM_001127222.2(CACNA1A):c.6051-7C>G
|
rs776664699
|
|
NM_001127222.2(CACNA1A):c.6056C>T (p.Ala2019Val)
|
|
|
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.6065G>A (p.Ser2022Asn)
|
rs2144525162
|
|
NM_001127222.2(CACNA1A):c.6067G>C (p.Gly2023Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6067G>T (p.Gly2023Cys)
|
rs574805525
|
|
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.607C>G (p.Leu203Val)
|
rs2144559245
|
|
NM_001127222.2(CACNA1A):c.6081C>A (p.Ser2027Arg)
|
rs2144525037
|
|
NM_001127222.2(CACNA1A):c.6083C>T (p.Pro2028Leu)
|
rs370345937
|
|
NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu)
|
|
|
NM_001127222.2(CACNA1A):c.6097C>T (p.Gln2033Ter)
|
rs2144524927
|
|
NM_001127222.2(CACNA1A):c.60C>T (p.Ala20=)
|
|
|
NM_001127222.2(CACNA1A):c.6103G>T (p.Ala2035Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6105C>T (p.Ala2035=)
|
rs2144524908
|
|
NM_001127222.2(CACNA1A):c.6113T>C (p.Met2038Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6114del (p.Met2038fs)
|
rs1064796199
|
|
NM_001127222.2(CACNA1A):c.611A>G (p.Lys204Arg)
|
rs2144559219
|
|
NM_001127222.2(CACNA1A):c.6128G>T (p.Gly2043Val)
|
|
|
NM_001127222.2(CACNA1A):c.6132A>G (p.Thr2044=)
|
rs1333411586
|
|
NM_001127222.2(CACNA1A):c.6137G>T (p.Ser2046Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6142G>A (p.Glu2048Lys)
|
rs1568423655
|
|
NM_001127222.2(CACNA1A):c.6147_6163del (p.Gln2049fs)
|
rs2144524536
|
|
NM_001127222.2(CACNA1A):c.6149G>T (p.Gly2050Val)
|
rs2054848687
|
|
NM_001127222.2(CACNA1A):c.6151_6152insT (p.Pro2051fs)
|
|
|
NM_001127222.2(CACNA1A):c.6155del (p.Pro2052fs)
|
rs1158454977
|
|
NM_001127222.2(CACNA1A):c.6155dup (p.Thr2053fs)
|
rs1158454977
|
|
NM_001127222.2(CACNA1A):c.6158C>A (p.Thr2053Asn)
|
|
|
NM_001127222.2(CACNA1A):c.6159C>A (p.Thr2053=)
|
rs767440240
|
|
NM_001127222.2(CACNA1A):c.6159C>T (p.Thr2053=)
|
rs767440240
|
|
NM_001127222.2(CACNA1A):c.616G>A (p.Val206Met)
|
rs2144559196
|
|
NM_001127222.2(CACNA1A):c.6172A>G (p.Ser2058Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6173G>C (p.Ser2058Thr)
|
rs1600089299
|
|
NM_001127222.2(CACNA1A):c.6180T>C (p.Pro2060=)
|
rs2054847037
|
|
NM_001127222.2(CACNA1A):c.6181A>C (p.Asn2061His)
|
rs974724726
|
|
NM_001127222.2(CACNA1A):c.6181_6184del (p.Asn2061fs)
|
rs2144524434
|
|
NM_001127222.2(CACNA1A):c.6183C>T (p.Asn2061=)
|
|
|
NM_001127222.2(CACNA1A):c.6188A>G (p.Gln2063Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6189+10T>C
|
|
|
NM_001127222.2(CACNA1A):c.6189+10_6189+65del
|
|
|
NM_001127222.2(CACNA1A):c.6189+17A>G
|
|
|
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+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.6189+4C>A
|
rs2054846468
|
|
NM_001127222.2(CACNA1A):c.6189+6T>C
|
|
|
NM_001127222.2(CACNA1A):c.6189+74A>C
|
rs16048
|
|
NM_001127222.2(CACNA1A):c.6189+8T>C
|
rs1600089260
|
|
NM_001127222.2(CACNA1A):c.618G>A (p.Val206=)
|
|
|
NM_001127222.2(CACNA1A):c.6190-13A>G
|
rs1600088809
|
|
NM_001127222.2(CACNA1A):c.6190-2A>C
|
rs1064796709
|
|
NM_001127222.2(CACNA1A):c.6190-8C>T
|
|
|
NM_001127222.2(CACNA1A):c.6195G>A (p.Val2065=)
|
|
|
NM_001127222.2(CACNA1A):c.6198G>A (p.Glu2066=)
|
rs1600088725
|
|
NM_001127222.2(CACNA1A):c.6199A>G (p.Met2067Val)
|
|
|
NM_001127222.2(CACNA1A):c.6202C>G (p.Arg2068Gly)
|
rs779221807
|
|
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.6209T>C (p.Met2070Thr)
|
rs2144523250
|
|
NM_001127222.2(CACNA1A):c.620C>T (p.Ser207Phe)
|
|
|
NM_001127222.2(CACNA1A):c.6210G>A (p.Met2070Ile)
|
rs1555731738
|
|
NM_001127222.2(CACNA1A):c.6212_6221del (p.Gly2071fs)
|
|
|
NM_001127222.2(CACNA1A):c.6214A>G (p.Arg2072Gly)
|
rs541830363
|
|
NM_001127222.2(CACNA1A):c.6217G>C (p.Asp2073His)
|
|
|
NM_001127222.2(CACNA1A):c.622G>A (p.Gly208Arg)
|
rs1568581246
|
|
NM_001127222.2(CACNA1A):c.6230A>T (p.Asp2077Val)
|
rs2144523108
|
|
NM_001127222.2(CACNA1A):c.6232A>G (p.Ser2078Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6233G>A (p.Ser2078Asn)
|
|
|
NM_001127222.2(CACNA1A):c.623G>C (p.Gly208Ala)
|
rs2144559143
|
|
NM_001127222.2(CACNA1A):c.6240C>G (p.His2080Gln)
|
rs2054835310
|
|
NM_001127222.2(CACNA1A):c.6243C>T (p.Tyr2081=)
|
|
|
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.6271G>A (p.Ala2091Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6272C>T (p.Ala2091Val)
|
rs377051916
|
|
NM_001127222.2(CACNA1A):c.6275C>A (p.Ser2092Tyr)
|
rs2144522850
|
|
NM_001127222.2(CACNA1A):c.6277A>G (p.Met2093Val)
|
|
|
NM_001127222.2(CACNA1A):c.6278T>C (p.Met2093Thr)
|
|
|
NM_001127222.2(CACNA1A):c.6284G>A (p.Arg2095His)
|
|
|
NM_001127222.2(CACNA1A):c.6291T>C (p.Pro2097=)
|
|
|
NM_001127222.2(CACNA1A):c.6292G>C (p.Ala2098Pro)
|
rs2144522708
|
|
NM_001127222.2(CACNA1A):c.6303+12C>T
|
|
|
NM_001127222.2(CACNA1A):c.6303+17C>G
|
|
|
NM_001127222.2(CACNA1A):c.6303+18T>C
|
|
|
NM_001127222.2(CACNA1A):c.6303+1G>A
|
rs1600088360
|
|
NM_001127222.2(CACNA1A):c.6303+3G>A
|
|
|
NM_001127222.2(CACNA1A):c.6303+50G>A
|
rs376767532
|
|
NM_001127222.2(CACNA1A):c.6303+5G>A
|
|
|
NM_001127222.2(CACNA1A):c.6303+94del
|
rs3217380
|
|
NM_001127222.2(CACNA1A):c.6304-13G>A
|
|
|
NM_001127222.2(CACNA1A):c.6304-15A>T
|
|
|
NM_001127222.2(CACNA1A):c.6304-18C>T
|
rs933016243
|
|
NM_001127222.2(CACNA1A):c.6304-6T>G
|
|
|
NM_001127222.2(CACNA1A):c.6304-9C>G
|
rs928691437
|
|
NM_001127222.2(CACNA1A):c.6305G>A (p.Arg2102Lys)
|
rs866974416
|
|
NM_001127222.2(CACNA1A):c.6306G>A (p.Arg2102=)
|
rs557017447
|
|
NM_001127222.2(CACNA1A):c.631+15G>C
|
|
|
NM_001127222.2(CACNA1A):c.631+18C>T
|
|
|
NM_001127222.2(CACNA1A):c.631+2T>C
|
|
|
NM_001127222.2(CACNA1A):c.631+4C>T
|
rs1568581241
|
|
NM_001127222.2(CACNA1A):c.631+5G>A
|
rs786200963
|
|
NM_001127222.2(CACNA1A):c.631+9G>A
|
|
|
NM_001127222.2(CACNA1A):c.6317G>T (p.Arg2106Leu)
|
rs373229577
|
|
NM_001127222.2(CACNA1A):c.632-15T>A
|
rs2144523661
|
|
NM_001127222.2(CACNA1A):c.632-18C>A
|
rs1057523722
|
|
NM_001127222.2(CACNA1A):c.632-20CT[3]
|
|
|
NM_001127222.2(CACNA1A):c.632-211dup
|
rs34216609
|
|
NM_001127222.2(CACNA1A):c.632-3C>T
|
|
|
NM_001127222.2(CACNA1A):c.632-3dup
|
rs2059191701
|
|
NM_001127222.2(CACNA1A):c.632-5C>T
|
rs1310830010
|
|
NM_001127222.2(CACNA1A):c.632-7C>A
|
rs1555774874
|
|
NM_001127222.2(CACNA1A):c.632-7C>T
|
|
|
NM_001127222.2(CACNA1A):c.632-8C>G
|
rs762951690
|
|
NM_001127222.2(CACNA1A):c.6321A>C (p.Pro2107=)
|
rs2054776841
|
|
NM_001127222.2(CACNA1A):c.6322C>A (p.Arg2108Ser)
|
rs758498629
|
|
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
|
|
|
NM_001127222.2(CACNA1A):c.6323G>A (p.Arg2108His)
|
rs867865729
|
|
NM_001127222.2(CACNA1A):c.6327G>A (p.Gly2109=)
|
|
|
NM_001127222.2(CACNA1A):c.6339+10G>T
|
rs376238265
|
|
NM_001127222.2(CACNA1A):c.6339+13C>T
|
|
|
NM_001127222.2(CACNA1A):c.6339+16G>A
|
|
|
NM_001127222.2(CACNA1A):c.6339+4T>C
|
rs2054775532
|
|
NM_001127222.2(CACNA1A):c.6339+4T>G
|
|
|
NM_001127222.2(CACNA1A):c.6339+5G>C
|
rs2144513372
|
|
NM_001127222.2(CACNA1A):c.6340-17C>T
|
|
|
NM_001127222.2(CACNA1A):c.6340-1G>C
|
|
|
NM_001127222.2(CACNA1A):c.6340-5C>G
|
rs991192417
|
|
NM_001127222.2(CACNA1A):c.6340-7C>T
|
rs765609971
|
|
NM_001127222.2(CACNA1A):c.6340A>G (p.Thr2114Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6340A>T (p.Thr2114Ser)
|
rs2054722290
|
|
NM_001127222.2(CACNA1A):c.6341C>T (p.Thr2114Ile)
|
|
|
NM_001127222.2(CACNA1A):c.6343_6345dup (p.Ile2115dup)
|
rs2144506658
|
|
NM_001127222.2(CACNA1A):c.6357C>T (p.Ser2119=)
|
rs866806995
|
|
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.6365A>G (p.Lys2122Arg)
|
rs2144506548
|
|
NM_001127222.2(CACNA1A):c.6366G>A (p.Lys2122=)
|
rs1208181261
|
|
NM_001127222.2(CACNA1A):c.6367C>T (p.Arg2123Cys)
|
rs1255940553
|
|
NM_001127222.2(CACNA1A):c.6368G>A (p.Arg2123His)
|
rs1220294928
|
|
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs)
|
rs1555730902
|
|
NM_001127222.2(CACNA1A):c.6371C>A (p.Ser2124Ter)
|
rs2144506487
|
|
NM_001127222.2(CACNA1A):c.6384G>A (p.Leu2128=)
|
|
|
NM_001127222.2(CACNA1A):c.6385G>C (p.Gly2129Arg)
|
rs1369133711
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
NM_001127222.2(CACNA1A):c.6397_6403del (p.Arg2133fs)
|
rs2144506286
|
|
NM_001127222.2(CACNA1A):c.6397del (p.Arg2133fs)
|
|
|
NM_001127222.2(CACNA1A):c.63C>A (p.Ala21=)
|
rs946116668
|
|
NM_001127222.2(CACNA1A):c.6406G>C (p.Asp2136His)
|
rs1173266790
|
|
NM_001127222.2(CACNA1A):c.6408C>A (p.Asp2136Glu)
|
|
|
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.6422A>G (p.Glu2141Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6424C>A (p.Arg2142=)
|
|
|
NM_001127222.2(CACNA1A):c.6424C>T (p.Arg2142Trp)
|
|
|
NM_001127222.2(CACNA1A):c.6425G>A (p.Arg2142Gln)
|
rs1268148205
|
|
NM_001127222.2(CACNA1A):c.6432G>A (p.Pro2144=)
|
|
|
NM_001127222.2(CACNA1A):c.6435C>G (p.Pro2145=)
|
|
|
NM_001127222.2(CACNA1A):c.6435dup (p.Glu2146fs)
|
|
|
NM_001127222.2(CACNA1A):c.6436GAG[1] (p.Glu2147del)
|
|
|
NM_001127222.2(CACNA1A):c.643G>A (p.Val215Ile)
|
rs1555774867
|
|
NM_001127222.2(CACNA1A):c.6448C>G (p.Arg2150Gly)
|
rs756780624
|
|
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala)
|
rs1599292631
|
|
NM_001127222.2(CACNA1A):c.6452_6463del (p.His2151_Arg2154del)
|
rs1469809752
|
|
NM_001127222.2(CACNA1A):c.6461G>A (p.Arg2154Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6461G>T (p.Arg2154Leu)
|
rs754317278
|
|
NM_001127222.2(CACNA1A):c.6462_6494del (p.Arg2155_Arg2165del)
|
|
|
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.6473G>T (p.Arg2158Leu)
|
|
|
NM_001127222.2(CACNA1A):c.6474C>A (p.Arg2158=)
|
rs368016666
|
|
NM_001127222.2(CACNA1A):c.6477C>T (p.Ser2159=)
|
|
|
NM_001127222.2(CACNA1A):c.6478C>T (p.His2160Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.6484G>A (p.Ala2162Thr)
|
rs17846928
|
|
NM_001127222.2(CACNA1A):c.6487T>G (p.Ser2163Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6488_6489del (p.Ala2162_Ser2163insTer)
|
|
|
NM_001127222.2(CACNA1A):c.6489dup (p.Glu2164Ter)
|
rs1555730801
|
|
NM_001127222.2(CACNA1A):c.6490G>C (p.Glu2164Gln)
|
|
|
NM_001127222.2(CACNA1A):c.64G>A (p.Gly22Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6503G>C (p.Gly2168Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6505C>G (p.Arg2169Gly)
|
rs375354077
|
|
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu)
|
rs1417890059
|
|
NM_001127222.2(CACNA1A):c.6512C>T (p.Thr2171Ile)
|
|
|
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.6516T>C (p.Asp2172=)
|
|
|
NM_001127222.2(CACNA1A):c.6523A>C (p.Thr2175Pro)
|
|
|
NM_001127222.2(CACNA1A):c.6526+11C>A
|
|
|
NM_001127222.2(CACNA1A):c.6526+124G>C
|
rs2304093
|
|
NM_001127222.2(CACNA1A):c.6526+13G>A
|
|
|
NM_001127222.2(CACNA1A):c.6526+16G>A
|
rs2144505254
|
|
NM_001127222.2(CACNA1A):c.6526+7A>C
|
rs972428713
|
|
NM_001127222.2(CACNA1A):c.6526+84G>A
|
rs73509459
|
|
NM_001127222.2(CACNA1A):c.6527-10C>A
|
|
|
NM_001127222.2(CACNA1A):c.6527-11A>G
|
|
|
NM_001127222.2(CACNA1A):c.6527-4C>T
|
|
|
NM_001127222.2(CACNA1A):c.6527-7G>A
|
rs1555730686
|
|
NM_001127222.2(CACNA1A):c.6527G>A (p.Gly2176Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6528C>T (p.Gly2176=)
|
rs2054695798
|
|
NM_001127222.2(CACNA1A):c.6529T>C (p.Leu2177=)
|
|
|
NM_001127222.2(CACNA1A):c.6529T>G (p.Leu2177Val)
|
|
|
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)
|
rs2144523407
|
|
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.6540C>T (p.Asp2180=)
|
rs2144502990
|
|
NM_001127222.2(CACNA1A):c.6542T>C (p.Leu2181Pro)
|
rs2144502972
|
|
NM_001127222.2(CACNA1A):c.6544A>T (p.Ser2182Cys)
|
|
|
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=)
|
rs201991581
|
|
NM_001127222.2(CACNA1A):c.6557A>T (p.Gln2186Leu)
|
|
|
NM_001127222.2(CACNA1A):c.655A>G (p.Ile219Val)
|
rs2059190992
|
|
NM_001127222.2(CACNA1A):c.655A>T (p.Ile219Phe)
|
rs2059190992
|
|
NM_001127222.2(CACNA1A):c.6561C>A (p.Ser2187=)
|
rs371116746
|
|
NM_001127222.2(CACNA1A):c.6565G>A (p.Asp2189Asn)
|
rs2144502827
|
|
NM_001127222.2(CACNA1A):c.6565del (p.Asp2189fs)
|
|
|
NM_001127222.2(CACNA1A):c.6572C>A (p.Pro2191Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6576G>A (p.Ser2192=)
|
rs770657980
|
|
NM_001127222.2(CACNA1A):c.6579G>A (p.Lys2193=)
|
|
|
NM_001127222.2(CACNA1A):c.6583C>T (p.Arg2195Trp)
|
rs1463901630
|
|
NM_001127222.2(CACNA1A):c.6584G>T (p.Arg2195Leu)
|
rs373192655
|
|
NM_001127222.2(CACNA1A):c.6585G>C (p.Arg2195=)
|
rs2144502704
|
|
NM_001127222.2(CACNA1A):c.6587_6598del (p.Asp2196_Arg2199del)
|
rs763941704
|
|
NM_001127222.2(CACNA1A):c.6587_6598dup (p.Arg2199_Gly2200insAspGlnGluArg)
|
|
|
NM_001127222.2(CACNA1A):c.658A>G (p.Met220Val)
|
|
|
NM_001127222.2(CACNA1A):c.6590_6601dup (p.Gly2200_Arg2201insGlnGluArgGly)
|
|
|
NM_001127222.2(CACNA1A):c.6591G>T (p.Gln2197His)
|
rs2054692765
|
|
NM_001127222.2(CACNA1A):c.6592G>C (p.Glu2198Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6599G>C (p.Gly2200Ala)
|
rs1163864338
|
|
NM_001127222.2(CACNA1A):c.65G>A (p.Gly22Glu)
|
rs1983011989
|
|
NM_001127222.2(CACNA1A):c.65G>C (p.Gly22Ala)
|
rs1983011989
|
|
NM_001127222.2(CACNA1A):c.6603G>A (p.Arg2201=)
|
|
|
NM_001127222.2(CACNA1A):c.6604C>T (p.Pro2202Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6609G>C (p.Lys2203Asn)
|
rs1276672646
|
|
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.6615G>A (p.Arg2205=)
|
rs2054690020
|
|
NM_001127222.2(CACNA1A):c.6622C>G (p.Arg2208Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6623G>A (p.Arg2208Gln)
|
|
|
NM_001127222.2(CACNA1A):c.6623_6628dup (p.Arg2208_Gln2209dup)
|
rs1247003992
|
|
NM_001127222.2(CACNA1A):c.6623_6631dup (p.Arg2208_His2210dup)
|
rs1305974321
|
|
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.6627dup (p.His2210fs)
|
rs1568419053
|
|
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[11] (p.His2218_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.6633C>G (p.His2211Gln)
|
rs775606907
|
|
NM_001127222.2(CACNA1A):c.6634C>G (p.His2212Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6636C>T (p.His2212=)
|
rs1379281681
|
|
NM_001127222.2(CACNA1A):c.6637C>T (p.His2213Tyr)
|
rs1555730624
|
|
NM_001127222.2(CACNA1A):c.6640C>A (p.His2214Asn)
|
rs905447472
|
|
NM_001127222.2(CACNA1A):c.6641A>G (p.His2214Arg)
|
rs1600079735
|
|
NM_001127222.2(CACNA1A):c.6641_6658del (p.His2214_His2219del)
|
rs1453912866
|
|
NM_001127222.2(CACNA1A):c.6642C>T (p.His2214=)
|
|
|
NM_001127222.2(CACNA1A):c.6643C>T (p.His2215Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.6647_6658del (p.His2216_His2219del)
|
rs770368215
|
|
NM_001127222.2(CACNA1A):c.6649C>T (p.His2217Tyr)
|
rs2054687055
|
|
NM_001127222.2(CACNA1A):c.6650A>G (p.His2217Arg)
|
|
|
NM_001127222.2(CACNA1A):c.6650A>T (p.His2217Leu)
|
rs2054686938
|
|
NM_001127222.2(CACNA1A):c.6650_6658del (p.His2217_His2219del)
|
rs776181081
|
|
NM_001127222.2(CACNA1A):c.6651C>T (p.His2217=)
|
|
|
NM_001127222.2(CACNA1A):c.6652C>T (p.His2218Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.6652_6653insCCCACC (p.His2217_His2218insProHis)
|
|
|
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.6655C>A (p.His2219Asn)
|
rs1307304917
|
|
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.6656_6658dup (p.His2219dup)
|
rs749638821
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCAC (p.His2219dup)
|
rs1057518615
|
|
NM_001127222.2(CACNA1A):c.6657delinsCCACCAC (p.His2218_His2219dup)
|
rs1057518615
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6658_6659insACCACC (p.His2219_Pro2220insHisHis)
|
|
|
NM_001127222.2(CACNA1A):c.6658_6669del (p.Pro2220_Pro2223del)
|
rs2144501445
|
|
NM_001127222.2(CACNA1A):c.6659ACC[3] (p.His2217_His2219dup)
|
rs768950814
|
|
NM_001127222.2(CACNA1A):c.6659ACC[6] (p.His2219_Pro2220insHisHisHisHisHisHis)
|
|
|
NM_001127222.2(CACNA1A):c.6659C>A (p.Pro2220His)
|
rs16052
|
|
NM_001127222.2(CACNA1A):c.665C>T (p.Ala222Val)
|
|
|
NM_001127222.2(CACNA1A):c.6660C>A (p.Pro2220=)
|
rs771726163
|
|
NM_001127222.2(CACNA1A):c.6661_6662insACCCCC (p.Pro2220_Pro2221insHisPro)
|
|
|
NM_001127222.2(CACNA1A):c.6663G>C (p.Pro2221=)
|
|
|
NM_001127222.2(CACNA1A):c.6664C>T (p.Pro2222Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6666C>T (p.Pro2222=)
|
rs1196254519
|
|
NM_001127222.2(CACNA1A):c.6666_6672del (p.Pro2223fs)
|
|
|
NM_001127222.2(CACNA1A):c.6669C>G (p.Pro2223=)
|
|
|
NM_001127222.2(CACNA1A):c.6669C>T (p.Pro2223=)
|
rs2304094
|
|
NM_001127222.2(CACNA1A):c.666G>A (p.Ala222=)
|
|
|
NM_001127222.2(CACNA1A):c.666G>C (p.Ala222=)
|
|
|
NM_001127222.2(CACNA1A):c.6670G>A (p.Asp2224Asn)
|
|
|
NM_001127222.2(CACNA1A):c.6672C>T (p.Asp2224=)
|
|
|
NM_001127222.2(CACNA1A):c.6678C>A (p.Asp2226Glu)
|
rs1181604906
|
|
NM_001127222.2(CACNA1A):c.6678C>T (p.Asp2226=)
|
|
|
NM_001127222.2(CACNA1A):c.6679C>A (p.Arg2227Ser)
|
|
|
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.6685G>T (p.Ala2229Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6686C>G (p.Ala2229Gly)
|
|
|
NM_001127222.2(CACNA1A):c.6689A>G (p.Gln2230Arg)
|
rs936533797
|
|
NM_001127222.2(CACNA1A):c.6690G>A (p.Gln2230=)
|
rs2144501238
|
|
NM_001127222.2(CACNA1A):c.6691del (p.Glu2231fs)
|
rs2144501233
|
|
NM_001127222.2(CACNA1A):c.6696G>T (p.Arg2232=)
|
|
|
NM_001127222.2(CACNA1A):c.6696_6697delinsTT (p.Pro2233Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6696dup (p.Pro2233fs)
|
rs2144501188
|
|
NM_001127222.2(CACNA1A):c.6697C>T (p.Pro2233Ser)
|
|
|
NM_001127222.2(CACNA1A):c.6697_6700dup (p.Asp2234fs)
|
|
|
NM_001127222.2(CACNA1A):c.6701A>T (p.Asp2234Val)
|
|
|
NM_001127222.2(CACNA1A):c.6702C>T (p.Asp2234=)
|
|
|
NM_001127222.2(CACNA1A):c.6703C>G (p.His2235Asp)
|
|
|
NM_001127222.2(CACNA1A):c.6703C>T (p.His2235Tyr)
|
rs903913051
|
|
NM_001127222.2(CACNA1A):c.6704A>G (p.His2235Arg)
|
rs758639263
|
|
NM_001127222.2(CACNA1A):c.6706G>T (p.Gly2236Cys)
|
rs752808137
|
|
NM_001127222.2(CACNA1A):c.672C>T (p.Ile224=)
|
rs771429351
|
|
NM_001127222.2(CACNA1A):c.673C>T (p.Pro225Ser)
|
|
|
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)
|
rs2059190701
|
|
NM_001127222.2(CACNA1A):c.676_784+1178del
|
|
|
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.6784_6788del (p.Ser2262fs)
|
|
|
NM_001127222.2(CACNA1A):c.6785G>A (p.Ser2262Asn)
|
rs2054633316
|
|
NM_001127222.2(CACNA1A):c.678G>A (p.Leu226=)
|
rs2144523263
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001127222.2(CACNA1A):c.682C>T (p.Gln228Ter)
|
|
|
NM_001127222.2(CACNA1A):c.6831C>G (p.Ser2277Arg)
|
|
|
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.685A>G (p.Ile229Val)
|
rs2059190527
|
|
NM_001127222.2(CACNA1A):c.6862del (p.Gln2288fs)
|
rs2144493067
|
|
NM_001127222.2(CACNA1A):c.6885A>C (p.Pro2295=)
|
|
|
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.6894C>T (p.Ser2298=)
|
|
|
NM_001127222.2(CACNA1A):c.689G>T (p.Gly230Val)
|
rs1568574634
|
|
NM_001127222.2(CACNA1A):c.68T>C (p.Val23Ala)
|
|
|
NM_001127222.2(CACNA1A):c.6901C>G (p.Pro2301Ala)
|
rs1351010453
|
|
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.698T>C (p.Leu233Pro)
|
rs2059190252
|
|
NM_001127222.2(CACNA1A):c.7002C>T (p.Ala2334=)
|
rs1057521445
|
|
NM_001127222.2(CACNA1A):c.7061C>T (p.Pro2354Leu)
|
rs1421650967
|
|
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
|
|
|
NM_001127222.2(CACNA1A):c.7097G>C (p.Arg2366Thr)
|
|
|
NM_001127222.2(CACNA1A):c.709A>G (p.Ile237Val)
|
rs2059190094
|
|
NM_001127222.2(CACNA1A):c.7109G>A (p.Arg2370Gln)
|
|
|
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp)
|
rs2054617959
|
|
NM_001127222.2(CACNA1A):c.7126C>T (p.Arg2376Trp)
|
|
|
NM_001127222.2(CACNA1A):c.712_726dup (p.Leu238_Ile242dup)
|
rs1568574602
|
|
NM_001127222.2(CACNA1A):c.7136C>T (p.Ser2379Phe)
|
rs2054617641
|
|
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.7206G>A (p.Pro2402=)
|
|
|
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.7249G>T (p.Glu2417Ter)
|
rs1008881855
|
|
NM_001127222.2(CACNA1A):c.7251G>A (p.Glu2417=)
|
|
|
NM_001127222.2(CACNA1A):c.7254C>T (p.Ala2418=)
|
|
|
NM_001127222.2(CACNA1A):c.7257T>C (p.Asp2419=)
|
|
|
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.7293C>A (p.Ala2431=)
|
|
|
NM_001127222.2(CACNA1A):c.72C>T (p.Val24=)
|
rs773531250
|
|
NM_001127222.2(CACNA1A):c.7301A>G (p.Tyr2434Cys)
|
|
|
NM_001127222.2(CACNA1A):c.7310C>A (p.Pro2437Gln)
|
|
|
NM_001127222.2(CACNA1A):c.7316C>T (p.Pro2439Leu)
|
rs1235870142
|
|
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.7349G>A (p.Arg2450His)
|
|
|
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.7394C>T (p.Pro2465Leu)
|
|
|
NM_001127222.2(CACNA1A):c.7400G>A (p.Arg2467Gln)
|
rs1199275549
|
|
NM_001127222.2(CACNA1A):c.7400G>C (p.Arg2467Pro)
|
rs1199275549
|
|
NM_001127222.2(CACNA1A):c.7404C>A (p.His2468Gln)
|
rs748037256
|
|
NM_001127222.2(CACNA1A):c.7408C>T (p.Arg2470Trp)
|
|
|
NM_001127222.2(CACNA1A):c.7419C>T (p.Pro2473=)
|
|
|
NM_001127222.2(CACNA1A):c.7424G>T (p.Gly2475Val)
|
rs1239663368
|
|
NM_001127222.2(CACNA1A):c.7426T>C (p.Tyr2476His)
|
rs779631503
|
|
NM_001127222.2(CACNA1A):c.7433C>T (p.Pro2478Leu)
|
|
|
NM_001127222.2(CACNA1A):c.7436C>G (p.Ala2479Gly)
|
rs758817759
|
|
NM_001127222.2(CACNA1A):c.743A>G (p.Tyr248Cys)
|
rs121908238
|
|
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln)
|
rs539546830
|
|
NM_001127222.2(CACNA1A):c.7440C>T (p.His2480=)
|
|
|
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg)
|
rs2144488387
|
|
NM_001127222.2(CACNA1A):c.7458C>A (p.Arg2486=)
|
|
|
NM_001127222.2(CACNA1A):c.7485C>G (p.His2495Gln)
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NM_001127222.2(CACNA1A):c.748G>A (p.Gly250Arg)
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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.752A>G (p.Lys251Arg)
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NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
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rs121908228
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NM_001127222.2(CACNA1A):c.75G>C (p.Val25=)
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NM_001127222.2(CACNA1A):c.75G>T (p.Val25=)
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NM_001127222.2(CACNA1A):c.760A>G (p.Thr254Ala)
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rs2059189603
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NM_001127222.2(CACNA1A):c.762C>T (p.Thr254=)
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NM_001127222.2(CACNA1A):c.766T>C (p.Cys256Arg)
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rs121908231
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NM_001127222.2(CACNA1A):c.767G>T (p.Cys256Phe)
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rs2059189489
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NM_001127222.2(CACNA1A):c.76G>T (p.Gly26Cys)
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NM_001127222.2(CACNA1A):c.772G>A (p.Glu258Lys)
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NM_001127222.2(CACNA1A):c.773A>C (p.Glu258Ala)
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rs2059189452
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NM_001127222.2(CACNA1A):c.781A>G (p.Thr261Ala)
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NM_001127222.2(CACNA1A):c.781del (p.Thr261fs)
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rs2059189334
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NM_001127222.2(CACNA1A):c.784+16A>T
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rs1445259892
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NM_001127222.2(CACNA1A):c.784+3A>G
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NM_001127222.2(CACNA1A):c.784+4G>A
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NM_001127222.2(CACNA1A):c.784G>A (p.Asp262Asn)
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NM_001127222.2(CACNA1A):c.784G>C (p.Asp262His)
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NM_001127222.2(CACNA1A):c.785-17C>G
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NM_001127222.2(CACNA1A):c.785-239dup
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rs200920495
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NM_001127222.2(CACNA1A):c.785-3T>C
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rs2145245902
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NM_001127222.2(CACNA1A):c.785-6T>C
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NM_001127222.2(CACNA1A):c.788A>G (p.Asp263Gly)
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NM_001127222.2(CACNA1A):c.788A>T (p.Asp263Val)
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rs2059070159
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NM_001127222.2(CACNA1A):c.78C>A (p.Gly26=)
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NM_001127222.2(CACNA1A):c.79A>G (p.Ser27Gly)
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NM_001127222.2(CACNA1A):c.7C>G (p.Arg3Gly)
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rs1326606155
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NM_001127222.2(CACNA1A):c.800A>G (p.Glu267Gly)
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NM_001127222.2(CACNA1A):c.803C>T (p.Ser268Phe)
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NM_001127222.2(CACNA1A):c.806C>T (p.Pro269Leu)
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rs763911399
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NM_001127222.2(CACNA1A):c.80G>T (p.Ser27Ile)
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NM_001127222.2(CACNA1A):c.810T>C (p.Ala270=)
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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.815G>A (p.Cys272Tyr)
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rs771682941
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NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter)
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NM_001127222.2(CACNA1A):c.819G>C (p.Gly273=)
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NM_001127222.2(CACNA1A):c.826G>T (p.Glu276Ter)
|
rs2059069286
|
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NM_001127222.2(CACNA1A):c.831C>G (p.Pro277=)
|
rs568635317
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|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
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>A (p.Arg279Ser)
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NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
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rs1555773764
|
|
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)
|
rs2145245595
|
|
NM_001127222.2(CACNA1A):c.843C>T (p.Cys281=)
|
rs2145245583
|
|
NM_001127222.2(CACNA1A):c.849T>C (p.Asn283=)
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NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val)
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rs1555773757
|
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NM_001127222.2(CACNA1A):c.853A>C (p.Thr285Pro)
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rs2145245518
|
|
NM_001127222.2(CACNA1A):c.860G>A (p.Cys287Tyr)
|
rs121908236
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NM_001127222.2(CACNA1A):c.865C>T (p.Pro289Ser)
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|
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NM_001127222.2(CACNA1A):c.867C>G (p.Pro289=)
|
rs777059446
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NM_001127222.2(CACNA1A):c.876dup (p.Gly293fs)
|
rs2145245392
|
|
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg)
|
rs121908215
|
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NM_001127222.2(CACNA1A):c.880C>T (p.Pro294Ser)
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|
|
NM_001127222.2(CACNA1A):c.889G>A (p.Gly297Arg)
|
rs1168625480
|
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NM_001127222.2(CACNA1A):c.8G>A (p.Arg3His)
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|
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NM_001127222.2(CACNA1A):c.901T>C (p.Phe301Leu)
|
rs1599276954
|
|
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
|
NM_001127222.2(CACNA1A):c.904G>C (p.Asp302His)
|
rs863224852
|
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NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)
|
rs2059067761
|
|
NM_001127222.2(CACNA1A):c.90G>A (p.Gly30=)
|
|
|
NM_001127222.2(CACNA1A):c.913C>T (p.Leu305=)
|
rs1599276914
|
|
NM_001127222.2(CACNA1A):c.91C>A (p.Arg31=)
|
|
|
NM_001127222.2(CACNA1A):c.91C>T (p.Arg31Ter)
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|
|
NM_001127222.2(CACNA1A):c.920C>T (p.Ala307Val)
|
rs1599276891
|
|
NM_001127222.2(CACNA1A):c.922G>C (p.Val308Leu)
|
rs778912392
|
|
NM_001127222.2(CACNA1A):c.928_931del (p.Thr310fs)
|
rs1599276830
|
|
NM_001127222.2(CACNA1A):c.936C>T (p.Phe312=)
|
|
|
NM_001127222.2(CACNA1A):c.937C>T (p.Gln313Ter)
|
|
|
NM_001127222.2(CACNA1A):c.938A>G (p.Gln313Arg)
|
|
|
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
|
|
|
NM_001127222.2(CACNA1A):c.955G>C (p.Gly319Arg)
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|
NM_001127222.2(CACNA1A):c.967C>G (p.Leu323Val)
|
|
|
NM_001127222.2(CACNA1A):c.967CTC[1] (p.Leu324del)
|
|
|
NM_001127222.2(CACNA1A):c.969C>T (p.Leu323=)
|
rs1210220449
|
|
NM_001127222.2(CACNA1A):c.970dup (p.Leu324fs)
|
|
|
NM_001127222.2(CACNA1A):c.978+12T>C
|
rs755859875
|
|
NM_001127222.2(CACNA1A):c.978+12T>G
|
|
|
NM_001127222.2(CACNA1A):c.978+19G>A
|
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|
NM_001127222.2(CACNA1A):c.978+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.978+1G>C
|
rs2145245078
|
|
NM_001127222.2(CACNA1A):c.97G>T (p.Ala33Ser)
|
rs749474997
|
|