NM_001205293.3(CACNA1E):c.1225+78A>G
|
rs12407563
|
0.84631
|
NM_001205293.3(CACNA1E):c.4329+151G>A
|
rs704330
|
0.84091
|
NM_001205293.3(CACNA1E):c.4882-228T>C
|
rs199928
|
0.78498
|
NM_001205293.3(CACNA1E):c.5470+110T>C
|
rs546191
|
0.67599
|
NM_001205293.3(CACNA1E):c.1316-13T>C
|
rs7540850
|
0.59094
|
NM_001205293.3(CACNA1E):c.3731+56C>T
|
rs704332
|
0.55277
|
NM_001205293.3(CACNA1E):c.770-184T>G
|
rs10494540
|
0.47987
|
NM_001205293.3(CACNA1E):c.1226-289A>T
|
rs2272694
|
0.46062
|
NM_001205293.3(CACNA1E):c.1525+255C>T
|
rs2280864
|
0.45989
|
NM_001205293.3(CACNA1E):c.2298-97C>T
|
rs2280865
|
0.43240
|
NM_001205293.3(CACNA1E):c.3829-164A>G
|
rs704331
|
0.38328
|
NM_001205293.3(CACNA1E):c.3423-109G>A
|
rs2280866
|
0.37269
|
NM_001205293.3(CACNA1E):c.4494+26G>A
|
rs704329
|
0.36498
|
NM_001205293.3(CACNA1E):c.5268-94G>T
|
rs704328
|
0.36444
|
NM_001205293.3(CACNA1E):c.5863G>A (p.Ala1955Thr)
|
rs704326
|
0.35753
|
NM_001205293.3(CACNA1E):c.4008T>C (p.His1336=)
|
rs4652678
|
0.32295
|
NM_001205293.3(CACNA1E):c.4815+28A>G
|
rs72735265
|
0.26676
|
NM_001205293.3(CACNA1E):c.4974-278A>G
|
rs169235
|
0.26504
|
NM_001205293.3(CACNA1E):c.4606-42dup
|
rs149636359
|
0.26465
|
NM_001205293.3(CACNA1E):c.4973+223A>G
|
rs199929
|
0.25704
|
NM_001205293.3(CACNA1E):c.4495-233G>C
|
rs59106703
|
0.25143
|
NM_001205293.3(CACNA1E):c.5073C>T (p.Asn1691=)
|
rs199930
|
0.24827
|
NM_001205293.3(CACNA1E):c.5267+216G>A
|
rs199932
|
0.24116
|
NM_001205293.3(CACNA1E):c.5578+155A>C
|
rs576602
|
0.23339
|
NM_001205293.3(CACNA1E):c.5787-108T>A
|
rs593942
|
0.20632
|
NM_001205293.3(CACNA1E):c.5579-140G>C
|
rs579105
|
0.20622
|
NM_001205293.3(CACNA1E):c.5364+273T>C
|
rs561352
|
0.20582
|
NM_001205293.3(CACNA1E):c.5787-329C>T
|
rs601059
|
0.20476
|
NM_001205293.3(CACNA1E):c.5365-31dup
|
rs55887632
|
0.20025
|
NM_001205293.3(CACNA1E):c.3613-115A>G
|
rs73045109
|
0.18157
|
NM_001205293.3(CACNA1E):c.3447C>T (p.Ile1149=)
|
rs34488539
|
0.16515
|
NM_001205293.3(CACNA1E):c.1639-19G>A
|
rs4651113
|
0.15248
|
NM_001205293.3(CACNA1E):c.373-324C>T
|
rs17494681
|
0.14311
|
NM_001205293.3(CACNA1E):c.616+293A>G
|
rs77757639
|
0.13764
|
NM_001205293.3(CACNA1E):c.2577T>A (p.Asp859Glu)
|
rs35737760
|
0.12668
|
NM_001205293.3(CACNA1E):c.1056-8G>A
|
rs17743547
|
0.12468
|
NM_001205293.3(CACNA1E):c.2075-287C>T
|
rs59778354
|
0.10996
|
NM_001205293.3(CACNA1E):c.3422+212A>T
|
rs2293990
|
0.10357
|
NM_001205293.3(CACNA1E):c.372+188G>A
|
rs56233035
|
0.10032
|
NM_001205293.3(CACNA1E):c.750A>G (p.Ala250=)
|
rs17443123
|
0.10021
|
NM_001205293.3(CACNA1E):c.*216T>C
|
rs2280869
|
0.07609
|
NM_001205293.3(CACNA1E):c.5787-164C>G
|
rs593875
|
0.06694
|
NM_001205293.3(CACNA1E):c.6208+58C>G
|
rs73045170
|
0.05962
|
NM_001205293.3(CACNA1E):c.1315+168A>T
|
rs866126891
|
0.05806
|
NM_001205293.3(CACNA1E):c.5365-101C>T
|
rs74489861
|
0.04958
|
NM_001205293.3(CACNA1E):c.5365-80C>T
|
rs74342664
|
0.04949
|
NM_001205293.3(CACNA1E):c.373-85C>T
|
rs6656283
|
0.04355
|
NM_001205293.3(CACNA1E):c.1751+113C>T
|
rs72735230
|
0.04087
|
NM_001205293.3(CACNA1E):c.5899-41G>A
|
rs75408623
|
0.03795
|
NM_001205293.3(CACNA1E):c.952-260T>C
|
rs3845440
|
0.03544
|
NM_001205293.3(CACNA1E):c.513-235C>A
|
rs183219601
|
0.03445
|
NM_001205293.3(CACNA1E):c.513-236A>C
|
rs190998640
|
0.03444
|
NM_001205293.3(CACNA1E):c.4815+217T>C
|
rs73045141
|
0.03399
|
NM_001205293.3(CACNA1E):c.1884-114del
|
rs150294854
|
0.03248
|
NM_001205293.3(CACNA1E):c.5139+66C>A
|
rs73045154
|
0.02989
|
NM_001205293.3(CACNA1E):c.5844G>A (p.Gln1948=)
|
rs34741608
|
0.02935
|
NM_001205293.3(CACNA1E):c.2992G>A (p.Gly998Ser)
|
rs41304253
|
0.02916
|
NM_001205293.3(CACNA1E):c.3829-202G>A
|
rs73045129
|
0.02837
|
NM_001205293.3(CACNA1E):c.3263-15G>A
|
rs11808627
|
0.02783
|
NM_001205293.3(CACNA1E):c.2142+249A>G
|
rs75128049
|
0.02756
|
NM_001205293.3(CACNA1E):c.2143-113T>G
|
rs113681565
|
0.02756
|
NM_001205293.3(CACNA1E):c.1957-149A>T
|
rs113148397
|
0.02750
|
NM_001205293.3(CACNA1E):c.5578+146A>G
|
rs2293994
|
0.02691
|
NM_001205293.3(CACNA1E):c.2949-79G>A
|
rs74127834
|
0.02534
|
NM_001205293.3(CACNA1E):c.3732-14C>T
|
rs2293991
|
0.02361
|
NM_001205293.3(CACNA1E):c.5898+197A>G
|
rs115781516
|
0.02103
|
NM_001205293.3(CACNA1E):c.4689+147A>G
|
rs116198720
|
0.02094
|
NM_001205293.3(CACNA1E):c.5140-255A>G
|
rs116389205
|
0.02065
|
NM_001205293.3(CACNA1E):c.6399+89C>T
|
rs79860368
|
0.01898
|
NM_001205293.3(CACNA1E):c.5365-198A>T
|
rs59106928
|
0.01780
|
NM_001205293.3(CACNA1E):c.1056-62C>T
|
rs147289897
|
0.01668
|
NM_001205293.3(CACNA1E):c.1639-84G>C
|
rs73043479
|
0.01567
|
NM_001205293.3(CACNA1E):c.4605+12A>C
|
rs9662282
|
0.01546
|
NM_001205293.3(CACNA1E):c.1956+165A>T
|
rs146432554
|
0.01535
|
NM_001205293.3(CACNA1E):c.4815+237G>A
|
rs73045142
|
0.01429
|
NC_000001.11:g.181483507T>C
|
rs111830180
|
0.01414
|
NM_001205293.3(CACNA1E):c.6027+86G>A
|
rs61814578
|
0.01395
|
NM_001205293.3(CACNA1E):c.3731+73G>C
|
rs55825927
|
0.01269
|
NM_001205293.3(CACNA1E):c.1525+106A>G
|
rs114379055
|
0.01258
|
NM_001205293.3(CACNA1E):c.6567C>T (p.Ser2189=)
|
rs34942364
|
0.01214
|
NM_001205293.3(CACNA1E):c.6027+280G>A
|
rs112087252
|
0.01191
|
NC_000001.11:g.181483210G>C
|
rs182525961
|
0.01179
|
NM_001205293.3(CACNA1E):c.1316-50G>A
|
rs57151171
|
0.01097
|
NM_001205293.3(CACNA1E):c.1956+293T>G
|
rs139051231
|
0.01089
|
NM_001205293.3(CACNA1E):c.2074+108G>A
|
rs115701164
|
0.01088
|
NM_001205293.3(CACNA1E):c.3989+203G>A
|
rs60122045
|
0.01050
|
NM_001205293.3(CACNA1E):c.1639-172A>G
|
rs10158454
|
0.00999
|
NM_001205293.3(CACNA1E):c.5787-123C>G
|
rs77370814
|
0.00997
|
NM_001205293.3(CACNA1E):c.373-14C>T
|
rs4083900
|
0.00970
|
NM_001205293.3(CACNA1E):c.267-125A>C
|
rs149824190
|
0.00961
|
NM_001205293.3(CACNA1E):c.4816-70G>C
|
rs149803681
|
0.00933
|
NM_001205293.3(CACNA1E):c.3732-263C>T
|
rs143973657
|
0.00929
|
NM_001205293.3(CACNA1E):c.1956+193T>C
|
rs79342324
|
0.00881
|
NM_001205293.3(CACNA1E):c.4815+269A>G
|
rs3820262
|
0.00864
|
NM_001205293.3(CACNA1E):c.3719+198C>T
|
rs141946926
|
0.00861
|
NM_001205293.3(CACNA1E):c.1957-184T>C
|
rs77068887
|
0.00800
|
NM_001205293.3(CACNA1E):c.3613-86G>A
|
rs193004830
|
0.00799
|
NM_001205293.3(CACNA1E):c.3828+68C>T
|
rs55700671
|
0.00779
|
NM_001205293.3(CACNA1E):c.4606-7T>C
|
rs74444271
|
0.00757
|
NM_001205293.3(CACNA1E):c.5578+129G>A
|
rs76391135
|
0.00718
|
NM_001205293.3(CACNA1E):c.2074+143T>G
|
rs114662930
|
0.00708
|
NM_001205293.3(CACNA1E):c.1638+171G>C
|
rs146513215
|
0.00706
|
NM_001205293.3(CACNA1E):c.1639-334G>A
|
rs115458231
|
0.00705
|
NM_001205293.3(CACNA1E):c.1525+243G>A
|
rs116468611
|
0.00704
|
NM_001205293.3(CACNA1E):c.1638+248C>T
|
rs139954332
|
0.00704
|
NM_001205293.3(CACNA1E):c.3990-78G>A
|
rs115720666
|
0.00695
|
NM_001205293.3(CACNA1E):c.6400-258T>C
|
rs148350967
|
0.00665
|
NM_001205293.3(CACNA1E):c.769+142C>G
|
rs74130053
|
0.00637
|
NM_001205293.3(CACNA1E):c.3065C>T (p.Thr1022Met)
|
rs74127835
|
0.00634
|
NM_001205293.3(CACNA1E):c.3552+255T>C
|
rs74553345
|
0.00611
|
NM_001205293.3(CACNA1E):c.373-150G>A
|
rs77649820
|
0.00587
|
NM_001205293.3(CACNA1E):c.1638+45T>C
|
rs139092974
|
0.00578
|
NM_001205293.3(CACNA1E):c.3828+140T>G
|
rs2293992
|
0.00573
|
NM_001205293.3(CACNA1E):c.3263-16C>T
|
rs74127837
|
0.00543
|
NM_001205293.3(CACNA1E):c.3552+242A>G
|
rs112103585
|
0.00526
|
NM_001205293.3(CACNA1E):c.3989+149T>C
|
rs74127849
|
0.00502
|
NM_001205293.3(CACNA1E):c.4816-30A>G
|
rs74919646
|
0.00502
|
NM_001205293.3(CACNA1E):c.1525+148G>T
|
rs72735227
|
0.00469
|
NM_001205293.3(CACNA1E):c.6008G>A (p.Arg2003His)
|
rs189129701
|
0.00461
|
NM_001205293.3(CACNA1E):c.5470+331A>T
|
rs76446594
|
0.00448
|
NM_001205293.3(CACNA1E):c.1956+19G>A
|
rs111734002
|
0.00431
|
NM_001205293.3(CACNA1E):c.4816-264G>C
|
rs75455556
|
0.00430
|
NC_000001.11:g.181483467C>T
|
rs189902582
|
0.00420
|
NM_001205293.3(CACNA1E):c.4494+263T>G
|
rs148141597
|
0.00399
|
NM_001205293.3(CACNA1E):c.3422+51G>C
|
rs182556822
|
0.00394
|
NM_001205293.3(CACNA1E):c.4329+14G>A
|
rs138957815
|
0.00394
|
NM_001205293.3(CACNA1E):c.1056-51T>C
|
rs112957335
|
0.00391
|
NM_001205293.3(CACNA1E):c.1172-60A>C
|
rs113071809
|
0.00386
|
NM_001205293.3(CACNA1E):c.1308C>G (p.Ser436=)
|
rs114088252
|
0.00386
|
NM_001205293.3(CACNA1E):c.2948+160G>T
|
rs534411557
|
0.00385
|
NM_001205293.3(CACNA1E):c.3989+16G>A
|
rs77439656
|
0.00383
|
NM_001205293.3(CACNA1E):c.2074+77G>A
|
rs187694635
|
0.00379
|
NM_001205293.3(CACNA1E):c.2075-220G>T
|
rs77413972
|
0.00378
|
NM_001205293.3(CACNA1E):c.2588G>A (p.Arg863Gln)
|
rs202202209
|
0.00361
|
NM_001205293.3(CACNA1E):c.4089G>T (p.Leu1363=)
|
rs199667506
|
0.00349
|
NM_001205293.3(CACNA1E):c.1638+254T>A
|
rs142232137
|
0.00347
|
NM_001205293.3(CACNA1E):c.2297+122T>C
|
rs11810375
|
0.00347
|
NM_001205293.3(CACNA1E):c.513-29C>A
|
rs114108199
|
0.00347
|
NM_001205293.3(CACNA1E):c.2298-16C>T
|
rs189050461
|
0.00345
|
NM_001205293.3(CACNA1E):c.6515A>G (p.Tyr2172Cys)
|
rs74695054
|
0.00344
|
NM_001205293.3(CACNA1E):c.1119G>A (p.Gln373=)
|
rs111619313
|
0.00330
|
NM_001205293.3(CACNA1E):c.1956+47G>A
|
rs187650141
|
0.00298
|
NM_001205293.3(CACNA1E):c.6399+3G>A
|
rs377238885
|
0.00297
|
NM_001205293.3(CACNA1E):c.6027+20A>G
|
rs190743003
|
0.00263
|
NM_001205293.3(CACNA1E):c.2298-38T>C
|
rs376600854
|
0.00262
|
NM_001205293.3(CACNA1E):c.4606-37C>A
|
rs371652502
|
0.00255
|
NM_001205293.3(CACNA1E):c.4734C>T (p.Phe1578=)
|
rs115093623
|
0.00255
|
NM_001205293.3(CACNA1E):c.1023T>C (p.Phe341=)
|
rs200603172
|
0.00235
|
NM_001205293.3(CACNA1E):c.5853T>C (p.Cys1951=)
|
rs374978888
|
0.00220
|
NM_001205293.3(CACNA1E):c.5679+10A>C
|
rs77123326
|
0.00218
|
NM_001205293.3(CACNA1E):c.6027+27C>G
|
rs137964585
|
0.00212
|
NM_001205293.3(CACNA1E):c.770-47G>A
|
rs369243894
|
0.00195
|
NM_001205293.3(CACNA1E):c.3732-101A>G
|
rs568839173
|
0.00194
|
NM_001205293.3(CACNA1E):c.57G>A (p.Ser19=)
|
rs370950694
|
0.00174
|
NM_001205293.3(CACNA1E):c.3207C>T (p.Ser1069=)
|
rs200952541
|
0.00157
|
NM_001205293.3(CACNA1E):c.4548C>T (p.Ala1516=)
|
rs201602244
|
0.00139
|
NM_001205293.3(CACNA1E):c.2328C>T (p.Ser776=)
|
rs182071786
|
0.00138
|
NM_001205293.3(CACNA1E):c.4973+41T>C
|
rs139243614
|
0.00138
|
NM_001205293.3(CACNA1E):c.954C>T (p.Thr318=)
|
rs147221625
|
0.00138
|
NM_001205293.3(CACNA1E):c.3423-22C>A
|
rs372450592
|
0.00133
|
NM_001205293.3(CACNA1E):c.501G>C (p.Val167=)
|
rs3856089
|
0.00131
|
NM_001205293.3(CACNA1E):c.5787-138T>A
|
rs74127864
|
0.00124
|
NM_001205293.3(CACNA1E):c.1957-23C>T
|
rs74127830
|
0.00123
|
NM_001205293.3(CACNA1E):c.3263-31T>C
|
rs369806879
|
0.00120
|
NM_001205293.3(CACNA1E):c.6537G>A (p.Ala2179=)
|
rs375338599
|
0.00118
|
NM_001205293.3(CACNA1E):c.1935A>G (p.Ala645=)
|
rs183395195
|
0.00114
|
NM_001205293.3(CACNA1E):c.2756G>A (p.Arg919Gln)
|
rs201406071
|
0.00113
|
NM_001205293.3(CACNA1E):c.4905C>T (p.Asp1635=)
|
rs183065185
|
0.00105
|
NM_001205293.3(CACNA1E):c.945G>A (p.Leu315=)
|
rs184822223
|
0.00100
|
NM_001205293.3(CACNA1E):c.1171+13G>A
|
rs367834352
|
0.00088
|
NM_001205293.3(CACNA1E):c.4212A>G (p.Val1404=)
|
rs61731221
|
0.00086
|
NM_001205293.3(CACNA1E):c.1348G>T (p.Ala450Ser)
|
rs35606457
|
0.00085
|
NM_001205293.3(CACNA1E):c.4606-29A>T
|
rs369121577
|
0.00085
|
NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=)
|
rs115927746
|
0.00085
|
NM_001205293.3(CACNA1E):c.1884-44T>G
|
rs191792823
|
0.00081
|
NM_001205293.3(CACNA1E):c.3837C>T (p.Phe1279=)
|
rs41315709
|
0.00079
|
NM_001205293.3(CACNA1E):c.2967G>A (p.Val989=)
|
rs375018770
|
0.00072
|
NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=)
|
rs182225778
|
0.00068
|
NM_001205293.3(CACNA1E):c.5711C>T (p.Pro1904Leu)
|
rs191359537
|
0.00068
|
NM_001205293.3(CACNA1E):c.3720-37T>C
|
rs141441184
|
0.00064
|
NM_001205293.3(CACNA1E):c.2124C>T (p.Asn708=)
|
rs372607441
|
0.00061
|
NM_001205293.3(CACNA1E):c.6028-28G>A
|
rs368602469
|
0.00060
|
NM_001205293.3(CACNA1E):c.4690-24A>G
|
rs376487264
|
0.00059
|
NM_001205293.3(CACNA1E):c.6470G>A (p.Arg2157Gln)
|
rs2480373
|
0.00055
|
NM_001205293.3(CACNA1E):c.1315+12C>G
|
rs373180436
|
0.00053
|
NM_001205293.3(CACNA1E):c.5365-25T>G
|
rs372063125
|
0.00051
|
NM_001205293.3(CACNA1E):c.4495-26T>C
|
rs370203584
|
0.00050
|
NM_001205293.3(CACNA1E):c.4287A>G (p.Gln1429=)
|
rs534133872
|
0.00049
|
NM_001205293.3(CACNA1E):c.5008C>T (p.Leu1670=)
|
rs143906181
|
0.00049
|
NM_001205293.3(CACNA1E):c.2681C>T (p.Pro894Leu)
|
rs200322209
|
0.00048
|
NM_001205293.3(CACNA1E):c.6832A>G (p.Met2278Val)
|
rs200469194
|
0.00047
|
NM_001205293.3(CACNA1E):c.5365-32T>G
|
rs3927750
|
0.00046
|
NM_001205293.3(CACNA1E):c.2492G>C (p.Arg831Thr)
|
rs773503365
|
0.00045
|
NM_001205293.3(CACNA1E):c.6536C>T (p.Ala2179Val)
|
rs199885694
|
0.00045
|
NM_001205293.3(CACNA1E):c.6027+43G>A
|
rs564487082
|
0.00043
|
NM_001205293.3(CACNA1E):c.5898+31T>A
|
rs187701933
|
0.00041
|
NM_001205293.3(CACNA1E):c.3263-13G>A
|
rs368969096
|
0.00040
|
NM_001205293.3(CACNA1E):c.3552+36T>C
|
rs200416833
|
0.00038
|
NM_001205293.3(CACNA1E):c.5898+10T>C
|
rs375791346
|
0.00035
|
NM_001205293.3(CACNA1E):c.2297+21G>A
|
rs373540440
|
0.00034
|
NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys)
|
rs200113695
|
0.00033
|
NM_001205293.3(CACNA1E):c.4605+21C>T
|
rs372381671
|
0.00032
|
NM_001205293.3(CACNA1E):c.3012C>A (p.Thr1004=)
|
rs377234151
|
0.00029
|
NM_001205293.3(CACNA1E):c.183C>T (p.Asn61=)
|
rs372445856
|
0.00028
|
NM_001205293.3(CACNA1E):c.372+12C>A
|
rs376256311
|
0.00028
|
NM_001205293.3(CACNA1E):c.5710C>A (p.Pro1904Thr)
|
rs149629433
|
0.00028
|
NM_001205293.3(CACNA1E):c.4816-3C>T
|
rs368553615
|
0.00025
|
NM_001205293.3(CACNA1E):c.617-16C>T
|
rs113730525
|
0.00025
|
NM_001205293.3(CACNA1E):c.3183C>G (p.Asp1061Glu)
|
rs556267480
|
0.00024
|
NM_001205293.3(CACNA1E):c.3543G>A (p.Glu1181=)
|
rs371345680
|
0.00024
|
NM_001205293.3(CACNA1E):c.5239G>A (p.Val1747Ile)
|
rs368636412
|
0.00024
|
NM_001205293.3(CACNA1E):c.6483C>T (p.Pro2161=)
|
rs370456526
|
0.00024
|
NM_001205293.3(CACNA1E):c.3691G>A (p.Val1231Ile)
|
rs376915340
|
0.00022
|
NM_001205293.3(CACNA1E):c.3243G>A (p.Val1081=)
|
rs368685257
|
0.00021
|
NM_001205293.3(CACNA1E):c.3540G>A (p.Ser1180=)
|
rs376599965
|
0.00021
|
NM_001205293.3(CACNA1E):c.5267+20G>A
|
rs375721145
|
0.00021
|
NM_001205293.3(CACNA1E):c.1767A>G (p.Leu589=)
|
rs374286518
|
0.00020
|
NM_001205293.3(CACNA1E):c.3229G>A (p.Val1077Met)
|
rs371974841
|
0.00020
|
NM_001205293.3(CACNA1E):c.3422+16G>A
|
rs377083761
|
0.00020
|
NM_001205293.3(CACNA1E):c.5871C>T (p.Asp1957=)
|
rs368162082
|
0.00020
|
NM_001205293.3(CACNA1E):c.2408C>T (p.Pro803Leu)
|
rs566701744
|
0.00019
|
NM_001205293.3(CACNA1E):c.6489G>T (p.Pro2163=)
|
rs377180948
|
0.00019
|
NM_001205293.3(CACNA1E):c.5238C>T (p.Arg1746=)
|
rs759983450
|
0.00018
|
NM_001205293.3(CACNA1E):c.3170C>T (p.Thr1057Met)
|
rs202026230
|
0.00017
|
NM_001205293.3(CACNA1E):c.4605+17T>C
|
rs368436683
|
0.00017
|
NM_001205293.3(CACNA1E):c.4494+40G>A
|
rs368587699
|
0.00016
|
NM_001205293.3(CACNA1E):c.4881+24G>A
|
rs145688780
|
0.00016
|
NM_001205293.3(CACNA1E):c.6325G>C (p.Ala2109Pro)
|
rs201622587
|
0.00016
|
NM_001205293.3(CACNA1E):c.6500G>A (p.Arg2167Gln)
|
rs370385055
|
0.00016
|
NM_001205293.3(CACNA1E):c.6785G>A (p.Arg2262His)
|
rs370396474
|
0.00016
|
NM_001205293.3(CACNA1E):c.6721G>A (p.Ala2241Thr)
|
rs202118773
|
0.00015
|
NM_001205293.3(CACNA1E):c.1113G>A (p.Arg371=)
|
rs1364900476
|
0.00014
|
NM_001205293.3(CACNA1E):c.2767C>T (p.His923Tyr)
|
rs560469774
|
0.00014
|
NM_001205293.3(CACNA1E):c.3831C>T (p.Ala1277=)
|
rs151199991
|
0.00013
|
NM_001205293.3(CACNA1E):c.2238C>T (p.Ile746=)
|
rs201629878
|
0.00012
|
NM_001205293.3(CACNA1E):c.2405C>T (p.Ala802Val)
|
rs374689888
|
0.00012
|
NM_001205293.3(CACNA1E):c.2472C>T (p.Pro824=)
|
rs768293768
|
0.00012
|
NM_001205293.3(CACNA1E):c.4495-12T>C
|
rs373657802
|
0.00012
|
NM_001205293.3(CACNA1E):c.1569G>A (p.Met523Ile)
|
rs144517660
|
0.00011
|
NM_001205293.3(CACNA1E):c.3066G>A (p.Thr1022=)
|
rs373164787
|
0.00011
|
NM_001205293.3(CACNA1E):c.3539C>T (p.Ser1180Leu)
|
rs202226007
|
0.00011
|
NM_001205293.3(CACNA1E):c.3731+13G>A
|
rs372306099
|
0.00011
|
NM_001205293.3(CACNA1E):c.4494+10G>C
|
rs57434679
|
0.00011
|
NM_001205293.3(CACNA1E):c.2260C>T (p.His754Tyr)
|
rs142822925
|
0.00010
|
NM_001205293.3(CACNA1E):c.2557G>A (p.Gly853Arg)
|
rs556292815
|
0.00010
|
NM_001205293.3(CACNA1E):c.3130C>T (p.Arg1044Trp)
|
rs377401371
|
0.00010
|
NM_001205293.3(CACNA1E):c.3723C>T (p.Asn1241=)
|
rs762242384
|
0.00010
|
NM_001205293.3(CACNA1E):c.6571G>C (p.Glu2191Gln)
|
rs367661786
|
0.00010
|
NM_001205293.3(CACNA1E):c.6920C>T (p.Thr2307Met)
|
rs564755599
|
0.00010
|
NM_001205293.3(CACNA1E):c.204C>T (p.Ser68=)
|
rs180688979
|
0.00009
|
NM_001205293.3(CACNA1E):c.3362G>A (p.Arg1121His)
|
rs370899738
|
0.00009
|
NM_001205293.3(CACNA1E):c.3525C>T (p.Pro1175=)
|
rs774517503
|
0.00009
|
NM_001205293.3(CACNA1E):c.4606-43T>C
|
rs72735263
|
0.00009
|
NM_001205293.3(CACNA1E):c.6484G>A (p.Val2162Ile)
|
rs373618053
|
0.00009
|
NM_001205293.3(CACNA1E):c.6625G>A (p.Glu2209Lys)
|
rs201030442
|
0.00009
|
NM_001205293.3(CACNA1E):c.6642G>A (p.Pro2214=)
|
rs374903430
|
0.00009
|
NM_001205293.3(CACNA1E):c.6756C>T (p.Phe2252=)
|
rs35105143
|
0.00009
|
NM_001205293.3(CACNA1E):c.6857G>A (p.Arg2286Gln)
|
rs749565023
|
0.00009
|
NM_001205293.3(CACNA1E):c.2470C>T (p.Pro824Ser)
|
rs1284163110
|
0.00008
|
NM_001205293.3(CACNA1E):c.28G>T (p.Ala10Ser)
|
rs751662861
|
0.00008
|
NM_001205293.3(CACNA1E):c.2980G>A (p.Gly994Arg)
|
rs148719824
|
0.00008
|
NM_001205293.3(CACNA1E):c.3055G>A (p.Val1019Met)
|
rs547399351
|
0.00008
|
NM_001205293.3(CACNA1E):c.3327G>A (p.Glu1109=)
|
rs376421930
|
0.00008
|
NM_001205293.3(CACNA1E):c.4347C>T (p.Phe1449=)
|
rs368943151
|
0.00008
|
NM_001205293.3(CACNA1E):c.4404G>A (p.Gln1468=)
|
rs370478765
|
0.00008
|
NM_001205293.3(CACNA1E):c.6530G>A (p.Arg2177Gln)
|
rs754653742
|
0.00008
|
NM_001205293.3(CACNA1E):c.6555T>C (p.Pro2185=)
|
rs371803586
|
0.00008
|
NM_001205293.3(CACNA1E):c.864G>C (p.Gly288=)
|
rs751911604
|
0.00008
|
NM_001205293.3(CACNA1E):c.3361C>T (p.Arg1121Cys)
|
rs376475241
|
0.00007
|
NM_001205293.3(CACNA1E):c.5898+13G>A
|
rs373077151
|
0.00007
|
NM_001205293.3(CACNA1E):c.6810A>G (p.Pro2270=)
|
rs756705313
|
0.00007
|
NM_001205293.3(CACNA1E):c.75G>T (p.Arg25=)
|
rs766436031
|
0.00007
|
NM_001205293.3(CACNA1E):c.1993A>G (p.Asn665Asp)
|
rs367947941
|
0.00006
|
NM_001205293.3(CACNA1E):c.2421G>A (p.Pro807=)
|
rs368794137
|
0.00006
|
NM_001205293.3(CACNA1E):c.2605A>G (p.Asn869Asp)
|
rs777502766
|
0.00006
|
NM_001205293.3(CACNA1E):c.2682G>A (p.Pro894=)
|
rs376991322
|
0.00006
|
NM_001205293.3(CACNA1E):c.2732G>A (p.Arg911Gln)
|
rs781514358
|
0.00006
|
NM_001205293.3(CACNA1E):c.2765G>A (p.Arg922Gln)
|
rs199820931
|
0.00006
|
NM_001205293.3(CACNA1E):c.2766G>T (p.Arg922=)
|
rs753108564
|
0.00006
|
NM_001205293.3(CACNA1E):c.2987C>T (p.Ala996Val)
|
rs545969150
|
0.00006
|
NM_001205293.3(CACNA1E):c.3124A>G (p.Met1042Val)
|
rs570189573
|
0.00006
|
NM_001205293.3(CACNA1E):c.3147C>T (p.Ser1049=)
|
rs750902818
|
0.00006
|
NM_001205293.3(CACNA1E):c.3422+15C>T
|
rs548579889
|
0.00006
|
NM_001205293.3(CACNA1E):c.3582G>A (p.Thr1194=)
|
rs567758950
|
0.00006
|
NM_001205293.3(CACNA1E):c.3975A>G (p.Thr1325=)
|
rs575702858
|
0.00006
|
NM_001205293.3(CACNA1E):c.4335G>A (p.Ala1445=)
|
rs779279181
|
0.00006
|
NM_001205293.3(CACNA1E):c.4690-16C>T
|
rs200721519
|
0.00006
|
NM_001205293.3(CACNA1E):c.5050G>A (p.Ala1684Thr)
|
rs373091982
|
0.00006
|
NM_001205293.3(CACNA1E):c.5067C>T (p.Asn1689=)
|
rs377382446
|
0.00006
|
NM_001205293.3(CACNA1E):c.5160C>T (p.Ala1720=)
|
rs761668905
|
0.00006
|
NM_001205293.3(CACNA1E):c.5253T>C (p.Tyr1751=)
|
rs753132042
|
0.00006
|
NM_001205293.3(CACNA1E):c.5812A>G (p.Met1938Val)
|
rs768084651
|
0.00006
|
NM_001205293.3(CACNA1E):c.5836A>T (p.Ile1946Leu)
|
rs567484183
|
0.00006
|
NM_001205293.3(CACNA1E):c.5855T>C (p.Met1952Thr)
|
rs756661624
|
0.00006
|
NM_001205293.3(CACNA1E):c.6096G>A (p.Ser2032=)
|
rs371656846
|
0.00006
|
NM_001205293.3(CACNA1E):c.6347G>A (p.Arg2116His)
|
rs372520364
|
0.00006
|
NM_001205293.3(CACNA1E):c.639C>T (p.Ser213=)
|
rs375614479
|
0.00006
|
NM_001205293.3(CACNA1E):c.6798C>T (p.Ile2266=)
|
rs750465912
|
0.00006
|
NM_001205293.3(CACNA1E):c.6856C>T (p.Arg2286Trp)
|
rs762766720
|
0.00006
|
NM_001205293.3(CACNA1E):c.969A>G (p.Gly323=)
|
rs555540452
|
0.00006
|
NM_001205293.3(CACNA1E):c.1446G>A (p.Val482=)
|
rs750643487
|
0.00005
|
NM_001205293.3(CACNA1E):c.2103C>T (p.Ile701=)
|
rs368547834
|
0.00005
|
NM_001205293.3(CACNA1E):c.2439G>A (p.Pro813=)
|
rs779571555
|
0.00005
|
NM_001205293.3(CACNA1E):c.2758C>T (p.Arg920Cys)
|
rs769232172
|
0.00005
|
NM_001205293.3(CACNA1E):c.2775C>T (p.Arg925=)
|
rs377522487
|
0.00005
|
NM_001205293.3(CACNA1E):c.2979C>T (p.Ser993=)
|
rs752775710
|
0.00005
|
NM_001205293.3(CACNA1E):c.3179C>T (p.Thr1060Met)
|
rs746583309
|
0.00005
|
NM_001205293.3(CACNA1E):c.3228C>T (p.Asp1076=)
|
rs368045905
|
0.00005
|
NM_001205293.3(CACNA1E):c.3270C>T (p.Asn1090=)
|
rs768466014
|
0.00005
|
NM_001205293.3(CACNA1E):c.3457C>T (p.Arg1153Cys)
|
rs372912168
|
0.00005
|
NM_001205293.3(CACNA1E):c.3491C>T (p.Ala1164Val)
|
rs377232916
|
0.00005
|
NM_001205293.3(CACNA1E):c.3724G>A (p.Ala1242Thr)
|
rs767788342
|
0.00005
|
NM_001205293.3(CACNA1E):c.4555A>G (p.Met1519Val)
|
rs558577396
|
0.00005
|
NM_001205293.3(CACNA1E):c.5406G>A (p.Thr1802=)
|
rs756368564
|
0.00005
|
NM_001205293.3(CACNA1E):c.6035C>G (p.Thr2012Arg)
|
rs376772306
|
0.00005
|
NM_001205293.3(CACNA1E):c.6208+18G>A
|
rs376438728
|
0.00005
|
NM_001205293.3(CACNA1E):c.6350G>A (p.Arg2117His)
|
rs376695821
|
0.00005
|
NM_001205293.3(CACNA1E):c.1065C>T (p.Ala355=)
|
rs755994282
|
0.00004
|
NM_001205293.3(CACNA1E):c.1315+166_1315+167insA
|
rs1653885505
|
0.00004
|
NM_001205293.3(CACNA1E):c.1560C>T (p.Leu520=)
|
rs758733623
|
0.00004
|
NM_001205293.3(CACNA1E):c.1956+17C>T
|
rs376476757
|
0.00004
|
NM_001205293.3(CACNA1E):c.2298-8_2298-6del
|
rs1299047972
|
0.00004
|
NM_001205293.3(CACNA1E):c.2670A>C (p.Gly890=)
|
rs369610414
|
0.00004
|
NM_001205293.3(CACNA1E):c.2757G>A (p.Arg919=)
|
rs749821229
|
0.00004
|
NM_001205293.3(CACNA1E):c.2770C>T (p.Arg924Cys)
|
rs757890592
|
0.00004
|
NM_001205293.3(CACNA1E):c.3276G>A (p.Thr1092=)
|
rs373480042
|
0.00004
|
NM_001205293.3(CACNA1E):c.3504C>T (p.Ile1168=)
|
rs746010047
|
0.00004
|
NM_001205293.3(CACNA1E):c.3553-17C>T
|
rs1173801018
|
0.00004
|
NM_001205293.3(CACNA1E):c.3720-4A>G
|
rs764110025
|
0.00004
|
NM_001205293.3(CACNA1E):c.3989+4A>G
|
rs748273284
|
0.00004
|
NM_001205293.3(CACNA1E):c.4065C>T (p.Tyr1355=)
|
rs759912388
|
0.00004
|
NM_001205293.3(CACNA1E):c.4341C>T (p.Ile1447=)
|
rs748583200
|
0.00004
|
NM_001205293.3(CACNA1E):c.4495-10T>C
|
rs757530177
|
0.00004
|
NM_001205293.3(CACNA1E):c.4973+13G>C
|
rs549596152
|
0.00004
|
NM_001205293.3(CACNA1E):c.5045C>T (p.Thr1682Ile)
|
rs775398717
|
0.00004
|
NM_001205293.3(CACNA1E):c.5088C>T (p.Thr1696=)
|
rs534041949
|
0.00004
|
NM_001205293.3(CACNA1E):c.5100C>T (p.Tyr1700=)
|
rs774746875
|
0.00004
|
NM_001205293.3(CACNA1E):c.5701C>T (p.Arg1901Cys)
|
rs199591744
|
0.00004
|
NM_001205293.3(CACNA1E):c.5794C>T (p.Arg1932Trp)
|
rs776416674
|
0.00004
|
NM_001205293.3(CACNA1E):c.5805C>T (p.Tyr1935=)
|
rs199684172
|
0.00004
|
NM_001205293.3(CACNA1E):c.6120G>A (p.Glu2040=)
|
rs368783125
|
0.00004
|
NM_001205293.3(CACNA1E):c.6122G>A (p.Arg2041Gln)
|
rs748537145
|
0.00004
|
NM_001205293.3(CACNA1E):c.6399+7G>A
|
rs371359893
|
0.00004
|
NM_001205293.3(CACNA1E):c.6434C>T (p.Ser2145Phe)
|
rs189356042
|
0.00004
|
NM_001205293.3(CACNA1E):c.6467G>A (p.Arg2156His)
|
rs373527839
|
0.00004
|
NM_001205293.3(CACNA1E):c.6878C>T (p.Pro2293Leu)
|
rs750079172
|
0.00004
|
NM_001205293.3(CACNA1E):c.1055+12G>A
|
rs118043317
|
0.00003
|
NM_001205293.3(CACNA1E):c.1371T>C (p.Tyr457=)
|
rs903431469
|
0.00003
|
NM_001205293.3(CACNA1E):c.1614T>G (p.Ser538=)
|
rs368015800
|
0.00003
|
NM_001205293.3(CACNA1E):c.1692G>A (p.Thr564=)
|
rs372308100
|
0.00003
|
NM_001205293.3(CACNA1E):c.2002C>T (p.Arg668Cys)
|
rs1228711500
|
0.00003
|
NM_001205293.3(CACNA1E):c.2143-6G>A
|
rs369128858
|
0.00003
|
NM_001205293.3(CACNA1E):c.2284C>T (p.Arg762Cys)
|
rs774490890
|
0.00003
|
NM_001205293.3(CACNA1E):c.241T>C (p.Tyr81His)
|
rs777347120
|
0.00003
|
NM_001205293.3(CACNA1E):c.2518_2529del (p.Leu840_Glu843del)
|
rs1327484784
|
0.00003
|
NM_001205293.3(CACNA1E):c.2555G>A (p.Arg852His)
|
rs538192254
|
0.00003
|
NM_001205293.3(CACNA1E):c.2665C>G (p.His889Asp)
|
rs374935515
|
0.00003
|
NM_001205293.3(CACNA1E):c.2812C>T (p.Arg938Trp)
|
rs375056155
|
0.00003
|
NM_001205293.3(CACNA1E):c.3054C>T (p.His1018=)
|
rs377580656
|
0.00003
|
NM_001205293.3(CACNA1E):c.3125T>C (p.Met1042Thr)
|
rs991751038
|
0.00003
|
NM_001205293.3(CACNA1E):c.3180G>A (p.Thr1060=)
|
rs770533002
|
0.00003
|
NM_001205293.3(CACNA1E):c.3225C>T (p.Pro1075=)
|
rs572301954
|
0.00003
|
NM_001205293.3(CACNA1E):c.3241G>A (p.Val1081Met)
|
rs375232970
|
0.00003
|
NM_001205293.3(CACNA1E):c.3262+15C>T
|
rs754266796
|
0.00003
|
NM_001205293.3(CACNA1E):c.3843C>T (p.Cys1281=)
|
rs373094161
|
0.00003
|
NM_001205293.3(CACNA1E):c.4102G>A (p.Val1368Ile)
|
rs574530214
|
0.00003
|
NM_001205293.3(CACNA1E):c.4974-15G>A
|
rs780417024
|
0.00003
|
NM_001205293.3(CACNA1E):c.498C>T (p.Ile166=)
|
rs376114074
|
0.00003
|
NM_001205293.3(CACNA1E):c.5049C>T (p.Thr1683=)
|
rs377072842
|
0.00003
|
NM_001205293.3(CACNA1E):c.5258G>A (p.Arg1753Gln)
|
rs371470806
|
0.00003
|
NM_001205293.3(CACNA1E):c.5391A>G (p.Val1797=)
|
rs1027645430
|
0.00003
|
NM_001205293.3(CACNA1E):c.5470+23G>C
|
rs748648041
|
0.00003
|
NM_001205293.3(CACNA1E):c.5524A>G (p.Ile1842Val)
|
rs761790010
|
0.00003
|
NM_001205293.3(CACNA1E):c.5568C>T (p.Pro1856=)
|
rs767412930
|
0.00003
|
NM_001205293.3(CACNA1E):c.5786+3G>A
|
rs1482680946
|
0.00003
|
NM_001205293.3(CACNA1E):c.5787-17T>C
|
rs747757024
|
0.00003
|
NM_001205293.3(CACNA1E):c.5872G>A (p.Gly1958Arg)
|
rs376329789
|
0.00003
|
NM_001205293.3(CACNA1E):c.5887C>T (p.Arg1963Trp)
|
rs767454901
|
0.00003
|
NM_001205293.3(CACNA1E):c.5979G>A (p.Ala1993=)
|
rs201021616
|
0.00003
|
NM_001205293.3(CACNA1E):c.6155G>A (p.Arg2052Gln)
|
rs192353760
|
0.00003
|
NM_001205293.3(CACNA1E):c.6841G>A (p.Gly2281Arg)
|
rs746705934
|
0.00003
|
NM_001205293.3(CACNA1E):c.6864C>T (p.Arg2288=)
|
rs768838447
|
0.00003
|
NM_001205293.3(CACNA1E):c.1055+17T>C
|
rs1470903295
|
0.00002
|
NM_001205293.3(CACNA1E):c.1089C>T (p.Asn363=)
|
rs374190474
|
0.00002
|
NM_001205293.3(CACNA1E):c.1171+9G>C
|
rs765519405
|
0.00002
|
NM_001205293.3(CACNA1E):c.1584T>C (p.Tyr528=)
|
rs755784716
|
0.00002
|
NM_001205293.3(CACNA1E):c.1668C>G (p.Val556=)
|
rs892558345
|
0.00002
|
NM_001205293.3(CACNA1E):c.1897G>T (p.Asp633Tyr)
|
rs777239816
|
0.00002
|
NM_001205293.3(CACNA1E):c.2118C>T (p.Leu706=)
|
rs747579262
|
0.00002
|
NM_001205293.3(CACNA1E):c.246C>G (p.Ala82=)
|
rs945252835
|
0.00002
|
NM_001205293.3(CACNA1E):c.2727G>A (p.Glu909=)
|
rs1427689382
|
0.00002
|
NM_001205293.3(CACNA1E):c.2773C>T (p.Arg925Cys)
|
rs751463313
|
0.00002
|
NM_001205293.3(CACNA1E):c.2949-17T>C
|
rs766254476
|
0.00002
|
NM_001205293.3(CACNA1E):c.3032C>T (p.Pro1011Leu)
|
rs765443815
|
0.00002
|
NM_001205293.3(CACNA1E):c.312C>T (p.Ile104=)
|
rs760287778
|
0.00002
|
NM_001205293.3(CACNA1E):c.3141C>T (p.Ser1047=)
|
rs757319688
|
0.00002
|
NM_001205293.3(CACNA1E):c.3143A>G (p.Gln1048Arg)
|
rs370791292
|
0.00002
|
NM_001205293.3(CACNA1E):c.3195C>T (p.Thr1065=)
|
rs763095520
|
0.00002
|
NM_001205293.3(CACNA1E):c.3204C>T (p.Thr1068=)
|
rs774555400
|
0.00002
|
NM_001205293.3(CACNA1E):c.324G>A (p.Leu108=)
|
rs753350389
|
0.00002
|
NM_001205293.3(CACNA1E):c.3345G>A (p.Lys1115=)
|
rs763395166
|
0.00002
|
NM_001205293.3(CACNA1E):c.3372C>A (p.Gly1124=)
|
rs758283909
|
0.00002
|
NM_001205293.3(CACNA1E):c.3423-5C>T
|
rs1005058441
|
0.00002
|
NM_001205293.3(CACNA1E):c.3513G>A (p.Ala1171=)
|
rs565145928
|
0.00002
|
NM_001205293.3(CACNA1E):c.3696C>T (p.Gly1232=)
|
rs755064825
|
0.00002
|
NM_001205293.3(CACNA1E):c.3828+12A>G
|
rs781239205
|
0.00002
|
NM_001205293.3(CACNA1E):c.4095C>A (p.Leu1365=)
|
rs775658768
|
0.00002
|
NM_001205293.3(CACNA1E):c.4546G>A (p.Ala1516Thr)
|
rs778501089
|
0.00002
|
NM_001205293.3(CACNA1E):c.4605+9C>A
|
rs769873314
|
0.00002
|
NM_001205293.3(CACNA1E):c.5016C>T (p.Cys1672=)
|
rs776434675
|
0.00002
|
NM_001205293.3(CACNA1E):c.56C>T (p.Ser19Leu)
|
rs758128368
|
0.00002
|
NM_001205293.3(CACNA1E):c.5776G>A (p.Val1926Ile)
|
rs765549822
|
0.00002
|
NM_001205293.3(CACNA1E):c.6027+37C>T
|
rs149489537
|
0.00002
|
NM_001205293.3(CACNA1E):c.6083G>A (p.Arg2028His)
|
rs1014152863
|
0.00002
|
NM_001205293.3(CACNA1E):c.6105G>A (p.Glu2035=)
|
rs1283175098
|
0.00002
|
NM_001205293.3(CACNA1E):c.6193C>G (p.Leu2065Val)
|
rs753214686
|
0.00002
|
NM_001205293.3(CACNA1E):c.6228C>T (p.His2076=)
|
rs376436823
|
0.00002
|
NM_001205293.3(CACNA1E):c.6516C>T (p.Tyr2172=)
|
rs756099099
|
0.00002
|
NM_001205293.3(CACNA1E):c.6535G>A (p.Ala2179Thr)
|
rs748177305
|
0.00002
|
NM_001205293.3(CACNA1E):c.6611A>G (p.Asn2204Ser)
|
rs923912118
|
0.00002
|
NM_001205293.3(CACNA1E):c.6676C>T (p.Arg2226Cys)
|
rs746785304
|
0.00002
|
NM_001205293.3(CACNA1E):c.69G>A (p.Arg23=)
|
rs1435805007
|
0.00002
|
NM_001205293.3(CACNA1E):c.777A>G (p.Leu259=)
|
rs771599176
|
0.00002
|
NM_001205293.3(CACNA1E):c.882C>T (p.Asn294=)
|
rs764228047
|
0.00002
|
NM_001205293.3(CACNA1E):c.952-13T>C
|
rs763200598
|
0.00002
|
NM_001205293.3(CACNA1E):c.1055+31A>T
|
rs754194469
|
0.00001
|
NM_001205293.3(CACNA1E):c.1056-6C>T
|
rs544963241
|
0.00001
|
NM_001205293.3(CACNA1E):c.108G>A (p.Ala36=)
|
rs1216894151
|
0.00001
|
NM_001205293.3(CACNA1E):c.1111C>T (p.Arg371Trp)
|
rs749043003
|
0.00001
|
NM_001205293.3(CACNA1E):c.113C>T (p.Ala38Val)
|
rs971589755
|
0.00001
|
NM_001205293.3(CACNA1E):c.1153G>T (p.Ala385Ser)
|
rs776876281
|
0.00001
|
NM_001205293.3(CACNA1E):c.1172-4A>G
|
rs778007393
|
0.00001
|
NM_001205293.3(CACNA1E):c.1182G>A (p.Met394Ile)
|
rs1010079884
|
0.00001
|
NM_001205293.3(CACNA1E):c.1186G>A (p.Ala396Thr)
|
rs777265667
|
0.00001
|
NM_001205293.3(CACNA1E):c.1202A>G (p.Asn401Ser)
|
rs746325499
|
0.00001
|
NM_001205293.3(CACNA1E):c.1225+11G>A
|
rs767087787
|
0.00001
|
NM_001205293.3(CACNA1E):c.122A>C (p.Gln41Pro)
|
rs773295315
|
0.00001
|
NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter)
|
rs1484841139
|
0.00001
|
NM_001205293.3(CACNA1E):c.1256G>A (p.Arg419Gln)
|
rs866035995
|
0.00001
|
NM_001205293.3(CACNA1E):c.1331G>A (p.Arg444Gln)
|
rs757539233
|
0.00001
|
NM_001205293.3(CACNA1E):c.1347T>C (p.Ser449=)
|
rs769048798
|
0.00001
|
NM_001205293.3(CACNA1E):c.1397G>A (p.Arg466His)
|
rs762966764
|
0.00001
|
NM_001205293.3(CACNA1E):c.1405A>G (p.Ile469Val)
|
rs751268343
|
0.00001
|
NM_001205293.3(CACNA1E):c.141G>T (p.Ala47=)
|
rs1357386518
|
0.00001
|
NM_001205293.3(CACNA1E):c.1459G>T (p.Ala487Ser)
|
rs1271256287
|
0.00001
|
NM_001205293.3(CACNA1E):c.167T>C (p.Ile56Thr)
|
rs370195946
|
0.00001
|
NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu)
|
rs377297262
|
0.00001
|
NM_001205293.3(CACNA1E):c.1752-15G>A
|
rs752102506
|
0.00001
|
NM_001205293.3(CACNA1E):c.1755T>C (p.Tyr585=)
|
rs762337372
|
0.00001
|
NM_001205293.3(CACNA1E):c.1842C>T (p.Ile614=)
|
rs764352459
|
0.00001
|
NM_001205293.3(CACNA1E):c.1843G>A (p.Val615Ile)
|
rs746915512
|
0.00001
|
NM_001205293.3(CACNA1E):c.1883+9C>G
|
rs1488129029
|
0.00001
|
NM_001205293.3(CACNA1E):c.1884-12T>C
|
rs1478251862
|
0.00001
|
NM_001205293.3(CACNA1E):c.1957-18G>A
|
rs763621649
|
0.00001
|
NM_001205293.3(CACNA1E):c.195C>G (p.Val65=)
|
rs749209780
|
0.00001
|
NM_001205293.3(CACNA1E):c.2004C>T (p.Arg668=)
|
rs1285178763
|
0.00001
|
NM_001205293.3(CACNA1E):c.2013T>C (p.Gly671=)
|
rs1654439311
|
0.00001
|
NM_001205293.3(CACNA1E):c.208T>C (p.Phe70Leu)
|
rs772298538
|
0.00001
|
NM_001205293.3(CACNA1E):c.2143-15C>T
|
rs376705486
|
0.00001
|
NM_001205293.3(CACNA1E):c.218G>A (p.Gly73Glu)
|
rs1219232478
|
0.00001
|
NM_001205293.3(CACNA1E):c.2211G>A (p.Pro737=)
|
rs760162429
|
0.00001
|
NM_001205293.3(CACNA1E):c.2239G>A (p.Glu747Lys)
|
rs1357407338
|
0.00001
|
NM_001205293.3(CACNA1E):c.2297+12C>G
|
rs767619020
|
0.00001
|
NM_001205293.3(CACNA1E):c.2298G>A (p.Leu766=)
|
rs1257129141
|
0.00001
|
NM_001205293.3(CACNA1E):c.2406G>A (p.Ala802=)
|
rs1192075910
|
0.00001
|
NM_001205293.3(CACNA1E):c.2409G>A (p.Pro803=)
|
rs1475932308
|
0.00001
|
NM_001205293.3(CACNA1E):c.2426A>G (p.Asn809Ser)
|
rs534272474
|
0.00001
|
NM_001205293.3(CACNA1E):c.2486G>A (p.Arg829Gln)
|
rs748035206
|
0.00001
|
NM_001205293.3(CACNA1E):c.2535C>T (p.Phe845=)
|
rs771030074
|
0.00001
|
NM_001205293.3(CACNA1E):c.2546G>A (p.Arg849His)
|
rs570878178
|
0.00001
|
NM_001205293.3(CACNA1E):c.2560G>C (p.Gly854Arg)
|
rs750125514
|
0.00001
|
NM_001205293.3(CACNA1E):c.2598C>T (p.Ala866=)
|
rs771874466
|
0.00001
|
NM_001205293.3(CACNA1E):c.2622G>T (p.Leu874Phe)
|
rs747235986
|
0.00001
|
NM_001205293.3(CACNA1E):c.2635C>T (p.Arg879Trp)
|
rs771126920
|
0.00001
|
NM_001205293.3(CACNA1E):c.266+16C>T
|
rs749948764
|
0.00001
|
NM_001205293.3(CACNA1E):c.267-18T>G
|
rs1227008710
|
0.00001
|
NM_001205293.3(CACNA1E):c.267-1C>T
|
rs1373504354
|
0.00001
|
NM_001205293.3(CACNA1E):c.267-7T>A
|
rs763314696
|
0.00001
|
NM_001205293.3(CACNA1E):c.2680C>T (p.Pro894Ser)
|
rs751910426
|
0.00001
|
NM_001205293.3(CACNA1E):c.2709G>A (p.Glu903=)
|
rs1490540640
|
0.00001
|
NM_001205293.3(CACNA1E):c.2711C>A (p.Ala904Asp)
|
rs1487157795
|
0.00001
|
NM_001205293.3(CACNA1E):c.2755C>T (p.Arg919Trp)
|
rs769941881
|
0.00001
|
NM_001205293.3(CACNA1E):c.2768A>G (p.His923Arg)
|
rs1157364148
|
0.00001
|
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His)
|
rs373971175
|
0.00001
|
NM_001205293.3(CACNA1E):c.2787A>G (p.Glu929=)
|
rs768854015
|
0.00001
|
NM_001205293.3(CACNA1E):c.2813G>A (p.Arg938Gln)
|
rs762485881
|
0.00001
|
NM_001205293.3(CACNA1E):c.2839A>G (p.Ser947Gly)
|
rs932095325
|
0.00001
|
NM_001205293.3(CACNA1E):c.2889G>T (p.Arg963Ser)
|
rs748692975
|
0.00001
|
NM_001205293.3(CACNA1E):c.2955C>T (p.Asn985=)
|
rs1490051769
|
0.00001
|
NM_001205293.3(CACNA1E):c.2981G>T (p.Gly994Val)
|
rs1429283789
|
0.00001
|
NM_001205293.3(CACNA1E):c.3001G>A (p.Glu1001Lys)
|
rs369934954
|
0.00001
|
NM_001205293.3(CACNA1E):c.3009C>T (p.Asp1003=)
|
rs374070066
|
0.00001
|
NM_001205293.3(CACNA1E):c.3018A>G (p.Leu1006=)
|
rs766311266
|
0.00001
|
NM_001205293.3(CACNA1E):c.3060G>A (p.Val1020=)
|
rs781551796
|
0.00001
|
NM_001205293.3(CACNA1E):c.3089G>T (p.Ser1030Ile)
|
rs1334265515
|
0.00001
|
NM_001205293.3(CACNA1E):c.3135C>T (p.Val1045=)
|
rs751578352
|
0.00001
|
NM_001205293.3(CACNA1E):c.3187G>C (p.Ala1063Pro)
|
rs745746461
|
0.00001
|
NM_001205293.3(CACNA1E):c.3213C>T (p.Thr1071=)
|
rs761205943
|
0.00001
|
NM_001205293.3(CACNA1E):c.3214G>A (p.Val1072Ile)
|
rs553844010
|
0.00001
|
NM_001205293.3(CACNA1E):c.3217G>C (p.Ala1073Pro)
|
rs373647895
|
0.00001
|
NM_001205293.3(CACNA1E):c.3226G>A (p.Asp1076Asn)
|
rs945186367
|
0.00001
|
NM_001205293.3(CACNA1E):c.3240G>A (p.Leu1080=)
|
rs1220120178
|
0.00001
|
NM_001205293.3(CACNA1E):c.3252C>T (p.Thr1084=)
|
rs749176253
|
0.00001
|
NM_001205293.3(CACNA1E):c.3253G>A (p.Val1085Met)
|
rs768308084
|
0.00001
|
NM_001205293.3(CACNA1E):c.3262+38C>T
|
rs765647764
|
0.00001
|
NM_001205293.3(CACNA1E):c.3262A>G (p.Ile1088Val)
|
rs772170723
|
0.00001
|
NM_001205293.3(CACNA1E):c.3263-19C>T
|
rs1442233380
|
0.00001
|
NM_001205293.3(CACNA1E):c.3275C>T (p.Thr1092Met)
|
rs1382064469
|
0.00001
|
NM_001205293.3(CACNA1E):c.3423-13C>T
|
rs560662850
|
0.00001
|
NM_001205293.3(CACNA1E):c.3526G>A (p.Val1176Ile)
|
rs1228218600
|
0.00001
|
NM_001205293.3(CACNA1E):c.3552+11A>C
|
rs751368195
|
0.00001
|
NM_001205293.3(CACNA1E):c.3552+4G>A
|
rs763963291
|
0.00001
|
NM_001205293.3(CACNA1E):c.3553-15A>G
|
rs1404990013
|
0.00001
|
NM_001205293.3(CACNA1E):c.3585C>T (p.Gly1195=)
|
rs376133244
|
0.00001
|
NM_001205293.3(CACNA1E):c.3612+12T>C
|
rs887693902
|
0.00001
|
NM_001205293.3(CACNA1E):c.3612+7A>C
|
rs1055662539
|
0.00001
|
NM_001205293.3(CACNA1E):c.3636G>A (p.Leu1212=)
|
rs773084628
|
0.00001
|
NM_001205293.3(CACNA1E):c.3669C>T (p.Asn1223=)
|
rs769569882
|
0.00001
|
NM_001205293.3(CACNA1E):c.3690C>T (p.Val1230=)
|
rs1168606555
|
0.00001
|
NM_001205293.3(CACNA1E):c.36A>G (p.Pro12=)
|
rs1189578549
|
0.00001
|
NM_001205293.3(CACNA1E):c.3719+6T>A
|
rs1656338337
|
0.00001
|
NM_001205293.3(CACNA1E):c.3720-17G>A
|
rs775542397
|
0.00001
|
NM_001205293.3(CACNA1E):c.372G>A (p.Leu124=)
|
rs777684224
|
0.00001
|
NM_001205293.3(CACNA1E):c.3825C>G (p.Leu1275=)
|
rs1657657952
|
0.00001
|
NM_001205293.3(CACNA1E):c.3838G>A (p.Asp1280Asn)
|
rs1169304498
|
0.00001
|
NM_001205293.3(CACNA1E):c.3844G>A (p.Val1282Ile)
|
rs1331568050
|
0.00001
|
NM_001205293.3(CACNA1E):c.3851C>A (p.Thr1284Asn)
|
rs376774223
|
0.00001
|
NM_001205293.3(CACNA1E):c.3876A>C (p.Ile1292=)
|
rs1251133850
|
0.00001
|
NM_001205293.3(CACNA1E):c.3936G>A (p.Lys1312=)
|
rs376302145
|
0.00001
|
NM_001205293.3(CACNA1E):c.3989+8C>T
|
rs772226943
|
0.00001
|
NM_001205293.3(CACNA1E):c.4186C>T (p.Arg1396Cys)
|
rs770435124
|
0.00001
|
NM_001205293.3(CACNA1E):c.4329+11T>C
|
rs780476086
|
0.00001
|
NM_001205293.3(CACNA1E):c.4329+8C>T
|
rs1391588678
|
0.00001
|
NM_001205293.3(CACNA1E):c.4351A>G (p.Ile1451Val)
|
rs769190799
|
0.00001
|
NM_001205293.3(CACNA1E):c.4357G>A (p.Ala1453Thr)
|
rs373070905
|
0.00001
|
NM_001205293.3(CACNA1E):c.4383G>A (p.Pro1461=)
|
rs761748918
|
0.00001
|
NM_001205293.3(CACNA1E):c.43G>A (p.Gly15Ser)
|
rs376471584
|
0.00001
|
NM_001205293.3(CACNA1E):c.4410C>T (p.Arg1470=)
|
rs543492567
|
0.00001
|
NM_001205293.3(CACNA1E):c.4433C>T (p.Pro1478Leu)
|
rs760888096
|
0.00001
|
NM_001205293.3(CACNA1E):c.4464C>T (p.Ile1488=)
|
rs765778042
|
0.00001
|
NM_001205293.3(CACNA1E):c.4465G>A (p.Ala1489Thr)
|
rs1188254439
|
0.00001
|
NM_001205293.3(CACNA1E):c.4515C>T (p.Thr1505=)
|
rs753384637
|
0.00001
|
NM_001205293.3(CACNA1E):c.4584G>A (p.Lys1528=)
|
rs537685270
|
0.00001
|
NM_001205293.3(CACNA1E):c.4605+11G>T
|
rs1658324108
|
0.00001
|
NM_001205293.3(CACNA1E):c.4606-3C>T
|
rs1037223207
|
0.00001
|
NM_001205293.3(CACNA1E):c.4623C>A (p.Thr1541=)
|
rs377143034
|
0.00001
|
NM_001205293.3(CACNA1E):c.4648G>A (p.Val1550Met)
|
rs773509097
|
0.00001
|
NM_001205293.3(CACNA1E):c.4689+5A>G
|
rs1324836124
|
0.00001
|
NM_001205293.3(CACNA1E):c.4690-11T>C
|
rs1335258810
|
0.00001
|
NM_001205293.3(CACNA1E):c.470G>A (p.Arg157His)
|
rs373195246
|
0.00001
|
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val)
|
rs1159957403
|
0.00001
|
NM_001205293.3(CACNA1E):c.4816-7C>T
|
rs983187062
|
0.00001
|
NM_001205293.3(CACNA1E):c.5051C>T (p.Ala1684Val)
|
rs146835258
|
0.00001
|
NM_001205293.3(CACNA1E):c.5057C>T (p.Ser1686Leu)
|
rs1332242368
|
0.00001
|
NM_001205293.3(CACNA1E):c.5068G>A (p.Glu1690Lys)
|
rs569085430
|
0.00001
|
NM_001205293.3(CACNA1E):c.5082C>T (p.Cys1694=)
|
rs148991237
|
0.00001
|
NM_001205293.3(CACNA1E):c.5267+15C>T
|
rs773362783
|
0.00001
|
NM_001205293.3(CACNA1E):c.5267+19C>T
|
rs1248524367
|
0.00001
|
NM_001205293.3(CACNA1E):c.5267+9G>T
|
rs957723169
|
0.00001
|
NM_001205293.3(CACNA1E):c.5268-14C>T
|
rs905630988
|
0.00001
|
NM_001205293.3(CACNA1E):c.5268-7T>C
|
rs1479413067
|
0.00001
|
NM_001205293.3(CACNA1E):c.5268T>C (p.Cys1756=)
|
rs374944539
|
0.00001
|
NM_001205293.3(CACNA1E):c.530G>A (p.Gly177Glu)
|
rs751409680
|
0.00001
|
NM_001205293.3(CACNA1E):c.5398G>A (p.Asp1800Asn)
|
rs373022078
|
0.00001
|
NM_001205293.3(CACNA1E):c.5486A>G (p.Gln1829Arg)
|
rs1198888369
|
0.00001
|
NM_001205293.3(CACNA1E):c.5518C>T (p.Leu1840=)
|
rs1660713401
|
0.00001
|
NM_001205293.3(CACNA1E):c.5576A>G (p.Lys1859Arg)
|
rs1397321654
|
0.00001
|
NM_001205293.3(CACNA1E):c.5775C>T (p.Pro1925=)
|
rs759244871
|
0.00001
|
NM_001205293.3(CACNA1E):c.5786+15A>C
|
rs1244345350
|
0.00001
|
NM_001205293.3(CACNA1E):c.5787-16T>C
|
rs771592213
|
0.00001
|
NM_001205293.3(CACNA1E):c.5793C>T (p.Gly1931=)
|
rs569921548
|
0.00001
|
NM_001205293.3(CACNA1E):c.5827C>T (p.Pro1943Ser)
|
rs549170593
|
0.00001
|
NM_001205293.3(CACNA1E):c.5865C>T (p.Ala1955=)
|
rs775469137
|
0.00001
|
NM_001205293.3(CACNA1E):c.5866G>A (p.Asp1956Asn)
|
rs1033770342
|
0.00001
|
NM_001205293.3(CACNA1E):c.5888G>A (p.Arg1963Gln)
|
rs369566269
|
0.00001
|
NM_001205293.3(CACNA1E):c.6056G>A (p.Arg2019His)
|
rs775309185
|
0.00001
|
NM_001205293.3(CACNA1E):c.6067A>T (p.Thr2023Ser)
|
rs762994535
|
0.00001
|
NM_001205293.3(CACNA1E):c.6191G>A (p.Arg2064His)
|
rs779562850
|
0.00001
|
NM_001205293.3(CACNA1E):c.6296G>A (p.Arg2099His)
|
rs1558404790
|
0.00001
|
NM_001205293.3(CACNA1E):c.6346C>T (p.Arg2116Cys)
|
rs765523959
|
0.00001
|
NM_001205293.3(CACNA1E):c.6351T>C (p.Arg2117=)
|
rs751970429
|
0.00001
|
NM_001205293.3(CACNA1E):c.6387G>A (p.Thr2129=)
|
rs1469262123
|
0.00001
|
NM_001205293.3(CACNA1E):c.6402C>G (p.Gly2134=)
|
rs1282664243
|
0.00001
|
NM_001205293.3(CACNA1E):c.6499C>G (p.Arg2167Gly)
|
rs763796830
|
0.00001
|
NM_001205293.3(CACNA1E):c.6501G>A (p.Arg2167=)
|
rs375247330
|
0.00001
|
NM_001205293.3(CACNA1E):c.6533A>T (p.His2178Leu)
|
rs1323103339
|
0.00001
|
NM_001205293.3(CACNA1E):c.6553C>T (p.Pro2185Ser)
|
rs548645440
|
0.00001
|
NM_001205293.3(CACNA1E):c.6623C>T (p.Thr2208Ile)
|
rs1175759822
|
0.00001
|
NM_001205293.3(CACNA1E):c.6624C>T (p.Thr2208=)
|
rs577783944
|
0.00001
|
NM_001205293.3(CACNA1E):c.6641C>T (p.Pro2214Leu)
|
rs767278261
|
0.00001
|
NM_001205293.3(CACNA1E):c.6647C>T (p.Pro2216Leu)
|
rs1411160654
|
0.00001
|
NM_001205293.3(CACNA1E):c.6766G>A (p.Val2256Met)
|
rs542899440
|
0.00001
|
NM_001205293.3(CACNA1E):c.6814C>T (p.Leu2272=)
|
rs1460381911
|
0.00001
|
NM_001205293.3(CACNA1E):c.6852G>A (p.Arg2284=)
|
rs1662043934
|
0.00001
|
NM_001205293.3(CACNA1E):c.6858G>A (p.Arg2286=)
|
rs751326531
|
0.00001
|
NM_001205293.3(CACNA1E):c.6865G>A (p.Gly2289Arg)
|
rs750533768
|
0.00001
|
NM_001205293.3(CACNA1E):c.6869G>C (p.Gly2290Ala)
|
rs756086125
|
0.00001
|
NM_001205293.3(CACNA1E):c.6932A>G (p.Asp2311Gly)
|
rs762920383
|
0.00001
|
NM_001205293.3(CACNA1E):c.769+9G>A
|
rs747273664
|
0.00001
|
NM_001205293.3(CACNA1E):c.770-12A>T
|
rs562006893
|
0.00001
|
NM_001205293.3(CACNA1E):c.849C>T (p.Ile283=)
|
rs759787187
|
0.00001
|
NM_001205293.3(CACNA1E):c.87C>G (p.Pro29=)
|
rs1412172036
|
0.00001
|
NM_001205293.3(CACNA1E):c.92C>T (p.Pro31Leu)
|
rs780719691
|
0.00001
|
NM_001205293.3(CACNA1E):c.952-19C>A
|
rs769560869
|
0.00001
|
NM_001205293.3(CACNA1E):c.981T>C (p.Asn327=)
|
rs574139937
|
0.00001
|
NM_001205293.3(CACNA1E):c.99G>A (p.Ser33=)
|
rs769667152
|
0.00001
|
GRCh37/hg19 1q25.3(chr1:181413190-181912240)x3
|
|
|
NC_000001.10:g.(?_181452881)_(181769287_?)dup
|
|
|
NC_000001.11:g.181483216_181483219del
|
rs5779103
|
|
NC_000001.11:g.181483508_181483509insCT
|
rs375048675
|
|
NC_000001.11:g.181483513_181483515dup
|
rs111237511
|
|
NC_000001.11:g.181483515del
|
rs111237511
|
|
NC_000001.11:g.181483515dup
|
rs111237511
|
|
NM_000721.4(CACNA1E):c.2899G>T (p.Gly967Cys)
|
rs2102553820
|
|
NM_000721.4(CACNA1E):c.5590A>T (p.Thr1864Ser)
|
rs2102844943
|
|
NM_001205293.3(CACNA1E):c.*13C>A
|
rs144714729
|
|
NM_001205293.3(CACNA1E):c.1009A>G (p.Ile337Val)
|
|
|
NM_001205293.3(CACNA1E):c.1017C>A (p.Ser339=)
|
|
|
NM_001205293.3(CACNA1E):c.101G>A (p.Gly34Glu)
|
|
|
NM_001205293.3(CACNA1E):c.101G>C (p.Gly34Ala)
|
rs2102468518
|
|
NM_001205293.3(CACNA1E):c.102G>A (p.Gly34=)
|
rs749016459
|
|
NM_001205293.3(CACNA1E):c.1037T>C (p.Val346Ala)
|
rs2102063188
|
|
NM_001205293.3(CACNA1E):c.1038C>A (p.Val346=)
|
rs779874299
|
|
NM_001205293.3(CACNA1E):c.104A>G (p.Gln35Arg)
|
|
|
NM_001205293.3(CACNA1E):c.1053C>A (p.Ser351=)
|
rs201080304
|
|
NM_001205293.3(CACNA1E):c.1053C>T (p.Ser351=)
|
rs201080304
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001205293.3(CACNA1E):c.1055+120G>C
|
rs61119076
|
|
NM_001205293.3(CACNA1E):c.1055+7C>T
|
|
|
NM_001205293.3(CACNA1E):c.1055+9G>A
|
|
|
NM_001205293.3(CACNA1E):c.1055+9G>T
|
|
|
NM_001205293.3(CACNA1E):c.1056-11C>G
|
|
|
NM_001205293.3(CACNA1E):c.1056-12T>G
|
|
|
NM_001205293.3(CACNA1E):c.1056-14C>A
|
|
|
NM_001205293.3(CACNA1E):c.1056-14C>T
|
|
|
NM_001205293.3(CACNA1E):c.1056-17A>G
|
|
|
NM_001205293.3(CACNA1E):c.1056-18T>A
|
|
|
NM_001205293.3(CACNA1E):c.1056-8_1056-7inv
|
|
|
NM_001205293.3(CACNA1E):c.1065C>G (p.Ala355=)
|
|
|
NM_001205293.3(CACNA1E):c.1078_1081del (p.Arg360fs)
|
|
|
NM_001205293.3(CACNA1E):c.1083G>A (p.Val361=)
|
rs2102424941
|
|
NM_001205293.3(CACNA1E):c.1091G>A (p.Arg364Gln)
|
|
|
NM_001205293.3(CACNA1E):c.1097C>T (p.Ala366Val)
|
|
|
NM_001205293.3(CACNA1E):c.1102A>G (p.Met368Val)
|
|
|
NM_001205293.3(CACNA1E):c.1103T>G (p.Met368Arg)
|
|
|
NM_001205293.3(CACNA1E):c.1112G>A (p.Arg371Gln)
|
|
|
NM_001205293.3(CACNA1E):c.1114C>T (p.Arg372Cys)
|
|
|
NM_001205293.3(CACNA1E):c.1131G>T (p.Glu377Asp)
|
rs1435631093
|
|
NM_001205293.3(CACNA1E):c.1138C>T (p.Leu380=)
|
|
|
NM_001205293.3(CACNA1E):c.1142A>G (p.Asn381Ser)
|
|
|
NM_001205293.3(CACNA1E):c.1144G>A (p.Gly382Ser)
|
|
|
NM_001205293.3(CACNA1E):c.114C>T (p.Ala38=)
|
|
|
NM_001205293.3(CACNA1E):c.1151G>A (p.Arg384His)
|
|
|
NM_001205293.3(CACNA1E):c.1153G>A (p.Ala385Thr)
|
|
|
NM_001205293.3(CACNA1E):c.1171+11_1171+28del
|
|
|
NM_001205293.3(CACNA1E):c.1171+14G>A
|
rs1653306801
|
|
NM_001205293.3(CACNA1E):c.1171+14dup
|
rs1302482602
|
|
NM_001205293.3(CACNA1E):c.1171+15C>T
|
|
|
NM_001205293.3(CACNA1E):c.1171+9G>A
|
|
|
NM_001205293.3(CACNA1E):c.1172-12G>A
|
|
|
NM_001205293.3(CACNA1E):c.1172-16A>G
|
rs1325528505
|
|
NM_001205293.3(CACNA1E):c.1172-9T>G
|
|
|
NM_001205293.3(CACNA1E):c.1179C>T (p.Val393=)
|
|
|
NM_001205293.3(CACNA1E):c.117C>T (p.Tyr39=)
|
|
|
NM_001205293.3(CACNA1E):c.1180A>G (p.Met394Val)
|
|
|
NM_001205293.3(CACNA1E):c.1185C>T (p.Leu395=)
|
|
|
NM_001205293.3(CACNA1E):c.1202_1203del (p.Asn401fs)
|
|
|
NM_001205293.3(CACNA1E):c.1208G>C (p.Gly403Ala)
|
|
|
NM_001205293.3(CACNA1E):c.1212_1214dup (p.Ser405dup)
|
rs2102451269
|
|
NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=)
|
rs35265801
|
|
NM_001205293.3(CACNA1E):c.1215C>T (p.Ser405=)
|
rs35265801
|
|
NM_001205293.3(CACNA1E):c.1216G>A (p.Ala406Thr)
|
|
|
NM_001205293.3(CACNA1E):c.1218C>T (p.Ala406=)
|
|
|
NM_001205293.3(CACNA1E):c.1225+262=
|
rs2472208
|
|
NM_001205293.3(CACNA1E):c.1226-10C>G
|
|
|
NM_001205293.3(CACNA1E):c.1226-17C>G
|
|
|
NM_001205293.3(CACNA1E):c.1226-4G>A
|
|
|
NM_001205293.3(CACNA1E):c.1226-4G>T
|
|
|
NM_001205293.3(CACNA1E):c.1253G>A (p.Ser418Asn)
|
|
|
NM_001205293.3(CACNA1E):c.1254C>T (p.Ser418=)
|
|
|
NM_001205293.3(CACNA1E):c.1255C>T (p.Arg419Trp)
|
rs377231001
|
|
NM_001205293.3(CACNA1E):c.125C>T (p.Thr42Met)
|
|
|
NM_001205293.3(CACNA1E):c.1266C>T (p.Ala422=)
|
|
|
NM_001205293.3(CACNA1E):c.126G>A (p.Thr42=)
|
rs761296841
|
|
NM_001205293.3(CACNA1E):c.1274G>C (p.Arg425Pro)
|
|
|
NM_001205293.3(CACNA1E):c.1278C>A (p.Asp426Glu)
|
|
|
NM_001205293.3(CACNA1E):c.1294T>C (p.Cys432Arg)
|
rs2102455473
|
|
NM_001205293.3(CACNA1E):c.1295G>A (p.Cys432Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.1297G>A (p.Val433Ile)
|
|
|
NM_001205293.3(CACNA1E):c.12C>G (p.Phe4Leu)
|
|
|
NM_001205293.3(CACNA1E):c.12C>T (p.Phe4=)
|
|
|
NM_001205293.3(CACNA1E):c.1305CTC[1] (p.Ser437del)
|
|
|
NM_001205293.3(CACNA1E):c.1308C>T (p.Ser436=)
|
|
|
NM_001205293.3(CACNA1E):c.1311T>C (p.Ser437=)
|
|
|
NM_001205293.3(CACNA1E):c.1314G>A (p.Val438=)
|
|
|
NM_001205293.3(CACNA1E):c.1315+11C>T
|
|
|
NM_001205293.3(CACNA1E):c.1315+13A>C
|
|
|
NM_001205293.3(CACNA1E):c.1315+15T>A
|
|
|
NM_001205293.3(CACNA1E):c.1315+17A>G
|
|
|
NM_001205293.3(CACNA1E):c.1315+183del
|
rs35884110
|
|
NM_001205293.3(CACNA1E):c.1315+183dup
|
rs35884110
|
|
NM_001205293.3(CACNA1E):c.1315+18G>C
|
|
|
NM_001205293.3(CACNA1E):c.1315+18G>T
|
|
|
NM_001205293.3(CACNA1E):c.1315+194A>G
|
rs75683482
|
|
NM_001205293.3(CACNA1E):c.1316-10T>C
|
|
|
NM_001205293.3(CACNA1E):c.1323T>C (p.Pro441=)
|
|
|
NM_001205293.3(CACNA1E):c.1335C>T (p.Ala445=)
|
|
|
NM_001205293.3(CACNA1E):c.1336A>G (p.Ser446Gly)
|
|
|
NM_001205293.3(CACNA1E):c.1349C>T (p.Ala450Val)
|
|
|
NM_001205293.3(CACNA1E):c.1353G>A (p.Lys451=)
|
|
|
NM_001205293.3(CACNA1E):c.1359C>T (p.Asp453=)
|
|
|
NM_001205293.3(CACNA1E):c.1361G>A (p.Gly454Glu)
|
|
|
NM_001205293.3(CACNA1E):c.1363G>A (p.Val455Ile)
|
|
|
NM_001205293.3(CACNA1E):c.1374C>T (p.Phe458=)
|
|
|
NM_001205293.3(CACNA1E):c.1375C>T (p.Arg459Trp)
|
|
|
NM_001205293.3(CACNA1E):c.1383G>A (p.Lys461=)
|
|
|
NM_001205293.3(CACNA1E):c.1396C>G (p.Arg466Gly)
|
rs2102461429
|
|
NM_001205293.3(CACNA1E):c.1405A>T (p.Ile469Phe)
|
|
|
NM_001205293.3(CACNA1E):c.140C>T (p.Ala47Val)
|
|
|
NM_001205293.3(CACNA1E):c.1416G>A (p.Met472Ile)
|
|
|
NM_001205293.3(CACNA1E):c.1423T>A (p.Ser475Thr)
|
rs2102461566
|
|
NM_001205293.3(CACNA1E):c.1429G>A (p.Val477Met)
|
|
|
NM_001205293.3(CACNA1E):c.1431G>T (p.Val477=)
|
|
|
NM_001205293.3(CACNA1E):c.143G>A (p.Arg48Gln)
|
|
|
NM_001205293.3(CACNA1E):c.1449G>C (p.Leu483=)
|
|
|
NM_001205293.3(CACNA1E):c.1451G>T (p.Ser484Ile)
|
|
|
NM_001205293.3(CACNA1E):c.1475G>C (p.Cys492Ser)
|
|
|
NM_001205293.3(CACNA1E):c.1479G>A (p.Val493=)
|
|
|
NM_001205293.3(CACNA1E):c.1482C>T (p.Ala494=)
|
|
|
NM_001205293.3(CACNA1E):c.1483A>G (p.Ile495Val)
|
rs755438550
|
|
NM_001205293.3(CACNA1E):c.1484T>C (p.Ile495Thr)
|
|
|
NM_001205293.3(CACNA1E):c.148A>G (p.Met50Val)
|
|
|
NM_001205293.3(CACNA1E):c.1491T>C (p.His497=)
|
rs2102461909
|
|
NM_001205293.3(CACNA1E):c.1497C>G (p.Asn499Lys)
|
|
|
NM_001205293.3(CACNA1E):c.14G>A (p.Gly5Glu)
|
|
|
NM_001205293.3(CACNA1E):c.1518C>T (p.His506=)
|
|
|
NM_001205293.3(CACNA1E):c.1522C>T (p.Leu508Phe)
|
|
|
NM_001205293.3(CACNA1E):c.1525+14C>T
|
|
|
NM_001205293.3(CACNA1E):c.1525+15_1525+27del
|
|
|
NM_001205293.3(CACNA1E):c.1525+18C>T
|
|
|
NM_001205293.3(CACNA1E):c.1525+7A>G
|
|
|
NM_001205293.3(CACNA1E):c.1526-13T>G
|
|
|
NM_001205293.3(CACNA1E):c.1526-210G>T
|
rs113971767
|
|
NM_001205293.3(CACNA1E):c.1526-242A>G
|
rs113114637
|
|
NM_001205293.3(CACNA1E):c.1526-7C>T
|
|
|
NM_001205293.3(CACNA1E):c.1550G>T (p.Gly517Val)
|
|
|
NM_001205293.3(CACNA1E):c.1562T>G (p.Leu521Trp)
|
|
|
NM_001205293.3(CACNA1E):c.1567A>T (p.Met523Leu)
|
rs2102466382
|
|
NM_001205293.3(CACNA1E):c.156G>C (p.Leu52Phe)
|
rs766926616
|
|
NM_001205293.3(CACNA1E):c.1570T>A (p.Ser524Thr)
|
|
|
NM_001205293.3(CACNA1E):c.1581G>C (p.Met527Ile)
|
|
|
NM_001205293.3(CACNA1E):c.1588A>G (p.Met530Val)
|
|
|
NM_001205293.3(CACNA1E):c.158A>T (p.Tyr53Phe)
|
|
|
NM_001205293.3(CACNA1E):c.1593G>A (p.Gly531=)
|
|
|
NM_001205293.3(CACNA1E):c.1597C>T (p.Arg533Cys)
|
|
|
NM_001205293.3(CACNA1E):c.1611C>G (p.His537Gln)
|
|
|
NM_001205293.3(CACNA1E):c.1613C>G (p.Ser538Cys)
|
|
|
NM_001205293.3(CACNA1E):c.1638+10C>A
|
rs371576889
|
|
NM_001205293.3(CACNA1E):c.1638+10C>T
|
rs371576889
|
|
NM_001205293.3(CACNA1E):c.1638+114C>A
|
rs114874713
|
|
NM_001205293.3(CACNA1E):c.1638+11G>A
|
rs776822286
|
|
NM_001205293.3(CACNA1E):c.1638+13A>G
|
|
|
NM_001205293.3(CACNA1E):c.1638+15G>T
|
rs759680965
|
|
NM_001205293.3(CACNA1E):c.1638+1G>C
|
|
|
NM_001205293.3(CACNA1E):c.1638+6T>A
|
|
|
NM_001205293.3(CACNA1E):c.1638+8C>T
|
rs2102466758
|
|
NM_001205293.3(CACNA1E):c.1638+9_1638+10delinsCT
|
|
|
NM_001205293.3(CACNA1E):c.1639-10G>A
|
rs2102476117
|
|
NM_001205293.3(CACNA1E):c.1639-4C>G
|
|
|
NM_001205293.3(CACNA1E):c.1639-7T>C
|
rs1265387968
|
|
NM_001205293.3(CACNA1E):c.164C>G (p.Pro55Arg)
|
|
|
NM_001205293.3(CACNA1E):c.1650C>A (p.Gly550=)
|
|
|
NM_001205293.3(CACNA1E):c.165C>A (p.Pro55=)
|
|
|
NM_001205293.3(CACNA1E):c.1665G>T (p.Val555=)
|
|
|
NM_001205293.3(CACNA1E):c.1666G>A (p.Val556Ile)
|
|
|
NM_001205293.3(CACNA1E):c.166A>G (p.Ile56Val)
|
rs755455773
|
|
NM_001205293.3(CACNA1E):c.1677C>A (p.Ile559=)
|
|
|
NM_001205293.3(CACNA1E):c.167T>A (p.Ile56Asn)
|
|
|
NM_001205293.3(CACNA1E):c.1690A>G (p.Thr564Ala)
|
|
|
NM_001205293.3(CACNA1E):c.169C>T (p.Pro57Ser)
|
|
|
NM_001205293.3(CACNA1E):c.170C>T (p.Pro57Leu)
|
|
|
NM_001205293.3(CACNA1E):c.1714C>A (p.Arg572=)
|
|
|
NM_001205293.3(CACNA1E):c.1718C>T (p.Ala573Val)
|
|
|
NM_001205293.3(CACNA1E):c.171C>T (p.Pro57=)
|
|
|
NM_001205293.3(CACNA1E):c.1723C>T (p.Arg575Trp)
|
|
|
NM_001205293.3(CACNA1E):c.1724G>A (p.Arg575Gln)
|
rs2102476576
|
|
NM_001205293.3(CACNA1E):c.1744A>G (p.Ile582Val)
|
rs2102476612
|
|
NM_001205293.3(CACNA1E):c.1749C>G (p.Thr583=)
|
|
|
NM_001205293.3(CACNA1E):c.1751+10C>A
|
rs759729688
|
|
NM_001205293.3(CACNA1E):c.1751+19G>A
|
|
|
NM_001205293.3(CACNA1E):c.1751+19del
|
rs1159897883
|
|
NM_001205293.3(CACNA1E):c.1751+43T>A
|
|
|
NM_001205293.3(CACNA1E):c.1752-12T>G
|
|
|
NM_001205293.3(CACNA1E):c.1752-18A>G
|
|
|
NM_001205293.3(CACNA1E):c.1752-18A>T
|
rs879655024
|
|
NM_001205293.3(CACNA1E):c.1754A>G (p.Tyr585Cys)
|
rs2102478366
|
|
NM_001205293.3(CACNA1E):c.1761T>G (p.Ala587=)
|
|
|
NM_001205293.3(CACNA1E):c.1768C>T (p.Arg590Trp)
|
|
|
NM_001205293.3(CACNA1E):c.176G>A (p.Arg59Gln)
|
rs535592986
|
|
NM_001205293.3(CACNA1E):c.176G>C (p.Arg59Pro)
|
|
|
NM_001205293.3(CACNA1E):c.176G>T (p.Arg59Leu)
|
|
|
NM_001205293.3(CACNA1E):c.1784C>G (p.Ser595Cys)
|
|
|
NM_001205293.3(CACNA1E):c.1797A>G (p.Ser599=)
|
|
|
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu)
|
rs778291283
|
|
NM_001205293.3(CACNA1E):c.1808_1812delinsGAGAA (p.Ile603_Ile604delinsArgGlu)
|
|
|
NM_001205293.3(CACNA1E):c.180G>T (p.Gln60His)
|
rs2102469173
|
|
NM_001205293.3(CACNA1E):c.1819C>T (p.Leu607Phe)
|
|
|
NM_001205293.3(CACNA1E):c.1820T>G (p.Leu607Arg)
|
|
|
NM_001205293.3(CACNA1E):c.1830C>G (p.Leu610=)
|
|
|
NM_001205293.3(CACNA1E):c.1840A>G (p.Ile614Val)
|
|
|
NM_001205293.3(CACNA1E):c.1857C>T (p.Leu619=)
|
|
|
NM_001205293.3(CACNA1E):c.187T>C (p.Phe63Leu)
|
|
|
NM_001205293.3(CACNA1E):c.1883+11A>C
|
|
|
NM_001205293.3(CACNA1E):c.1883+16C>A
|
|
|
NM_001205293.3(CACNA1E):c.1883+18T>C
|
rs2102478931
|
|
NM_001205293.3(CACNA1E):c.1883+47C>G
|
rs116114878
|
|
NM_001205293.3(CACNA1E):c.1883+7G>T
|
|
|
NM_001205293.3(CACNA1E):c.1883+8C>T
|
rs2102478875
|
|
NM_001205293.3(CACNA1E):c.1884-13T>C
|
|
|
NM_001205293.3(CACNA1E):c.1884-4T>C
|
|
|
NM_001205293.3(CACNA1E):c.1884-9G>A
|
|
|
NM_001205293.3(CACNA1E):c.1884G>T (p.Arg628Ser)
|
|
|
NM_001205293.3(CACNA1E):c.188T>G (p.Phe63Cys)
|
|
|
NM_001205293.3(CACNA1E):c.1890C>T (p.Asn630=)
|
|
|
NM_001205293.3(CACNA1E):c.190A>G (p.Thr64Ala)
|
|
|
NM_001205293.3(CACNA1E):c.1910C>T (p.Ser637Leu)
|
|
|
NM_001205293.3(CACNA1E):c.1926C>A (p.Thr642=)
|
|
|
NM_001205293.3(CACNA1E):c.1926C>T (p.Thr642=)
|
|
|
NM_001205293.3(CACNA1E):c.192C>G (p.Thr64=)
|
rs1571981561
|
|
NM_001205293.3(CACNA1E):c.1931C>T (p.Pro644Leu)
|
|
|
NM_001205293.3(CACNA1E):c.1941C>G (p.Ile647Met)
|
|
|
NM_001205293.3(CACNA1E):c.1943T>C (p.Met648Thr)
|
|
|
NM_001205293.3(CACNA1E):c.1947T>G (p.Thr649=)
|
|
|
NM_001205293.3(CACNA1E):c.1953C>T (p.Phe651=)
|
|
|
NM_001205293.3(CACNA1E):c.1956+13C>T
|
|
|
NM_001205293.3(CACNA1E):c.1956+18G>A
|
|
|
NM_001205293.3(CACNA1E):c.1956+3A>T
|
|
|
NM_001205293.3(CACNA1E):c.1956+8G>A
|
|
|
NM_001205293.3(CACNA1E):c.1957-12T>G
|
|
|
NM_001205293.3(CACNA1E):c.1957-131del
|
rs371501501
|
|
NM_001205293.3(CACNA1E):c.1957-5dup
|
|
|
NM_001205293.3(CACNA1E):c.1958T>A (p.Ile653Asn)
|
|
|
NM_001205293.3(CACNA1E):c.1959C>T (p.Ile653=)
|
|
|
NM_001205293.3(CACNA1E):c.1966G>A (p.Gly656Ser)
|
|
|
NM_001205293.3(CACNA1E):c.196A>G (p.Asn66Asp)
|
|
|
NM_001205293.3(CACNA1E):c.196A>T (p.Asn66Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.197A>G (p.Asn66Ser)
|
|
|
NM_001205293.3(CACNA1E):c.1983G>A (p.Glu661=)
|
|
|
NM_001205293.3(CACNA1E):c.1986G>A (p.Val662=)
|
rs1401707166
|
|
NM_001205293.3(CACNA1E):c.1994A>G (p.Asn665Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2003G>A (p.Arg668His)
|
|
|
NM_001205293.3(CACNA1E):c.2016G>A (p.Gly672=)
|
rs755212441
|
|
NM_001205293.3(CACNA1E):c.2016G>T (p.Gly672=)
|
|
|
NM_001205293.3(CACNA1E):c.2025A>G (p.Ser675=)
|
|
|
NM_001205293.3(CACNA1E):c.2050A>G (p.Ile684Val)
|
rs2102486455
|
|
NM_001205293.3(CACNA1E):c.205C>T (p.Leu69=)
|
|
|
NM_001205293.3(CACNA1E):c.2064G>A (p.Leu688=)
|
|
|
NM_001205293.3(CACNA1E):c.2069G>T (p.Gly690Val)
|
rs1361083258
|
|
NM_001205293.3(CACNA1E):c.2074+114A>C
|
rs76758259
|
|
NM_001205293.3(CACNA1E):c.2074+11T>C
|
|
|
NM_001205293.3(CACNA1E):c.2074+11del
|
rs771520100
|
|
NM_001205293.3(CACNA1E):c.2074+12A>G
|
|
|
NM_001205293.3(CACNA1E):c.2074+8T>C
|
|
|
NM_001205293.3(CACNA1E):c.2075-4C>G
|
|
|
NM_001205293.3(CACNA1E):c.2075-7A>G
|
|
|
NM_001205293.3(CACNA1E):c.2076C>A (p.Tyr692Ter)
|
rs2102499630
|
|
NM_001205293.3(CACNA1E):c.2078C>T (p.Thr693Met)
|
|
|
NM_001205293.3(CACNA1E):c.2079G>A (p.Thr693=)
|
|
|
NM_001205293.3(CACNA1E):c.207G>C (p.Leu69=)
|
rs2102469401
|
|
NM_001205293.3(CACNA1E):c.2084T>C (p.Leu695Pro)
|
|
|
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu)
|
rs1445829303
|
|
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr)
|
rs2102499747
|
|
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)
|
rs1558308998
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001205293.3(CACNA1E):c.2104G>C (p.Ala702Pro)
|
rs12131800
|
|
NM_001205293.3(CACNA1E):c.2105C>T (p.Ala702Val)
|
rs1654707104
|
|
NM_001205293.3(CACNA1E):c.2106T>A (p.Ala702=)
|
|
|
NM_001205293.3(CACNA1E):c.2119G>A (p.Ala707Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2125G>A (p.Ala709Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2139C>A (p.Thr713=)
|
rs2102499962
|
|
NM_001205293.3(CACNA1E):c.2142+15C>T
|
|
|
NM_001205293.3(CACNA1E):c.2142+20G>A
|
|
|
NM_001205293.3(CACNA1E):c.2142+5G>A
|
|
|
NM_001205293.3(CACNA1E):c.2143-131T>C
|
rs111644624
|
|
NM_001205293.3(CACNA1E):c.2143-13G>A
|
rs2102509594
|
|
NM_001205293.3(CACNA1E):c.2143-7T>C
|
|
|
NM_001205293.3(CACNA1E):c.2143-7T>G
|
|
|
NM_001205293.3(CACNA1E):c.2150A>G (p.Gln717Arg)
|
rs927493104
|
|
NM_001205293.3(CACNA1E):c.2157A>G (p.Glu719=)
|
|
|
NM_001205293.3(CACNA1E):c.2164G>A (p.Ala722Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2165C>G (p.Ala722Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2165C>T (p.Ala722Val)
|
|
|
NM_001205293.3(CACNA1E):c.216C>G (p.Phe72Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2174A>G (p.Gln725Arg)
|
rs2102509822
|
|
NM_001205293.3(CACNA1E):c.2177A>T (p.Lys726Ile)
|
rs2102509840
|
|
NM_001205293.3(CACNA1E):c.2187G>A (p.Leu729=)
|
|
|
NM_001205293.3(CACNA1E):c.2194_2196delinsAAA (p.Ala732Lys)
|
|
|
NM_001205293.3(CACNA1E):c.2195C>T (p.Ala732Val)
|
|
|
NM_001205293.3(CACNA1E):c.2202G>A (p.Glu734=)
|
rs2102509938
|
|
NM_001205293.3(CACNA1E):c.2203G>T (p.Val735Phe)
|
|
|
NM_001205293.3(CACNA1E):c.220G>A (p.Glu74Lys)
|
|
|
NM_001205293.3(CACNA1E):c.2210C>T (p.Pro737Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2219C>T (p.Ala740Val)
|
|
|
NM_001205293.3(CACNA1E):c.2224A>T (p.Asn742Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.2230C>G (p.Pro744Ala)
|
|
|
NM_001205293.3(CACNA1E):c.2231C>T (p.Pro744Leu)
|
rs2102510206
|
|
NM_001205293.3(CACNA1E):c.2234C>T (p.Ser745Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2235G>A (p.Ser745=)
|
rs772107111
|
|
NM_001205293.3(CACNA1E):c.2235G>T (p.Ser745=)
|
rs772107111
|
|
NM_001205293.3(CACNA1E):c.2238C>A (p.Ile746=)
|
rs201629878
|
|
NM_001205293.3(CACNA1E):c.2240+18T>C
|
|
|
NM_001205293.3(CACNA1E):c.2240+18T>G
|
|
|
NM_001205293.3(CACNA1E):c.2240+7C>T
|
|
|
NM_001205293.3(CACNA1E):c.2240+8A>T
|
|
|
NM_001205293.3(CACNA1E):c.2241-13T>G
|
|
|
NM_001205293.3(CACNA1E):c.2241-15A>G
|
|
|
NM_001205293.3(CACNA1E):c.2241-18T>C
|
|
|
NM_001205293.3(CACNA1E):c.2241-2A>G
|
|
|
NM_001205293.3(CACNA1E):c.2247C>T (p.Asp749=)
|
|
|
NM_001205293.3(CACNA1E):c.2248A>G (p.Arg750Gly)
|
rs1256519352
|
|
NM_001205293.3(CACNA1E):c.2249G>C (p.Arg750Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2257A>G (p.Arg753Gly)
|
rs2102541218
|
|
NM_001205293.3(CACNA1E):c.2267T>C (p.Met756Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2281C>T (p.Pro761Ser)
|
rs1302799818
|
|
NM_001205293.3(CACNA1E):c.2294A>G (p.His765Arg)
|
rs2102541491
|
|
NM_001205293.3(CACNA1E):c.2297+13C>A
|
|
|
NM_001205293.3(CACNA1E):c.2297+13C>T
|
|
|
NM_001205293.3(CACNA1E):c.2297+38C>T
|
rs74127833
|
|
NM_001205293.3(CACNA1E):c.2297+47G>A
|
rs746670580
|
|
NM_001205293.3(CACNA1E):c.2297+9G>A
|
|
|
NM_001205293.3(CACNA1E):c.2298-15C>T
|
|
|
NM_001205293.3(CACNA1E):c.2298-4G>T
|
|
|
NM_001205293.3(CACNA1E):c.2298-7T>C
|
|
|
NM_001205293.3(CACNA1E):c.229A>G (p.Ile77Val)
|
|
|
NM_001205293.3(CACNA1E):c.2301G>A (p.Arg767=)
|
|
|
NM_001205293.3(CACNA1E):c.2305C>T (p.Arg769Trp)
|
|
|
NM_001205293.3(CACNA1E):c.2306G>A (p.Arg769Gln)
|
|
|
NM_001205293.3(CACNA1E):c.2307G>T (p.Arg769=)
|
|
|
NM_001205293.3(CACNA1E):c.2312G>A (p.Arg771His)
|
rs1244664714
|
|
NM_001205293.3(CACNA1E):c.2314C>A (p.Arg772=)
|
|
|
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp)
|
rs1355669731
|
|
NM_001205293.3(CACNA1E):c.2315G>A (p.Arg772Gln)
|
|
|
NM_001205293.3(CACNA1E):c.2317C>T (p.His773Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.2317CAC[1] (p.His774del)
|
|
|
NM_001205293.3(CACNA1E):c.231T>G (p.Ile77Met)
|
|
|
NM_001205293.3(CACNA1E):c.2321A>G (p.His774Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2328C>G (p.Ser776=)
|
|
|
NM_001205293.3(CACNA1E):c.2329G>A (p.Val777Met)
|
|
|
NM_001205293.3(CACNA1E):c.232G>C (p.Val78Leu)
|
rs2102469602
|
|
NM_001205293.3(CACNA1E):c.2331G>T (p.Val777=)
|
|
|
NM_001205293.3(CACNA1E):c.2341C>T (p.Arg781Cys)
|
|
|
NM_001205293.3(CACNA1E):c.2347A>T (p.Ser783Cys)
|
|
|
NM_001205293.3(CACNA1E):c.2349C>T (p.Ser783=)
|
|
|
NM_001205293.3(CACNA1E):c.2350C>T (p.Gln784Ter)
|
|
|
NM_001205293.3(CACNA1E):c.2351A>G (p.Gln784Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2353C>T (p.Leu785=)
|
|
|
NM_001205293.3(CACNA1E):c.2363A>T (p.His788Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2369A>G (p.Gln790Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2370G>T (p.Gln790His)
|
|
|
NM_001205293.3(CACNA1E):c.2371A>G (p.Met791Val)
|
rs2102549129
|
|
NM_001205293.3(CACNA1E):c.2372T>C (p.Met791Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2393A>G (p.Asn798Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2394C>A (p.Asn798Lys)
|
|
|
NM_001205293.3(CACNA1E):c.2394C>G (p.Asn798Lys)
|
|
|
NM_001205293.3(CACNA1E):c.2403G>A (p.Glu801=)
|
|
|
NM_001205293.3(CACNA1E):c.2404G>A (p.Ala802Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2405C>A (p.Ala802Glu)
|
|
|
NM_001205293.3(CACNA1E):c.2410A>G (p.Thr804Ala)
|
|
|
NM_001205293.3(CACNA1E):c.2411C>T (p.Thr804Ile)
|
rs2102549416
|
|
NM_001205293.3(CACNA1E):c.2412C>T (p.Thr804=)
|
|
|
NM_001205293.3(CACNA1E):c.2413A>G (p.Met805Val)
|
|
|
NM_001205293.3(CACNA1E):c.2420C>T (p.Pro807Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2423T>C (p.Leu808Pro)
|
|
|
NM_001205293.3(CACNA1E):c.2424C>T (p.Leu808=)
|
|
|
NM_001205293.3(CACNA1E):c.2425A>G (p.Asn809Asp)
|
|
|
NM_001205293.3(CACNA1E):c.2426_2443del (p.806NPL[1])
|
|
|
NM_001205293.3(CACNA1E):c.2427C>T (p.Asn809=)
|
|
|
NM_001205293.3(CACNA1E):c.2428C>T (p.Pro810Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2430_2438del (p.806NPL[2])
|
|
|
NM_001205293.3(CACNA1E):c.2431C>T (p.Leu811Phe)
|
|
|
NM_001205293.3(CACNA1E):c.2436C>A (p.Asn812Lys)
|
rs987945204
|
|
NM_001205293.3(CACNA1E):c.2438C>T (p.Pro813Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2444G>A (p.Ser815Asn)
|
|
|
NM_001205293.3(CACNA1E):c.2444_2461del (p.Ser815_Leu820del)
|
|
|
NM_001205293.3(CACNA1E):c.2456C>T (p.Pro819Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2457G>A (p.Pro819=)
|
|
|
NM_001205293.3(CACNA1E):c.2460C>T (p.Leu820=)
|
|
|
NM_001205293.3(CACNA1E):c.2462A>G (p.Asn821Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2469C>T (p.His823=)
|
rs768575175
|
|
NM_001205293.3(CACNA1E):c.2471C>T (p.Pro824Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2472C>A (p.Pro824=)
|
|
|
NM_001205293.3(CACNA1E):c.2473A>C (p.Ser825Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2473A>G (p.Ser825Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2476C>T (p.Leu826Phe)
|
|
|
NM_001205293.3(CACNA1E):c.2477T>G (p.Leu826Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2480A>T (p.Tyr827Phe)
|
rs778587785
|
|
NM_001205293.3(CACNA1E):c.2482C>T (p.Arg828Trp)
|
|
|
NM_001205293.3(CACNA1E):c.2483G>A (p.Arg828Gln)
|
|
|
NM_001205293.3(CACNA1E):c.2483G>C (p.Arg828Pro)
|
|
|
NM_001205293.3(CACNA1E):c.2483G>T (p.Arg828Leu)
|
rs926850053
|
|
NM_001205293.3(CACNA1E):c.2485C>T (p.Arg829Ter)
|
|
|
NM_001205293.3(CACNA1E):c.2504GCCTGGCCCTGG[1] (p.835GLAL[1])
|
rs763708603
|
|
NM_001205293.3(CACNA1E):c.2504_2521del (p.Gly835_Leu840del)
|
rs2102550440
|
|
NM_001205293.3(CACNA1E):c.2508G>A (p.Leu836=)
|
|
|
NM_001205293.3(CACNA1E):c.2516G>C (p.Gly839Ala)
|
|
|
NM_001205293.3(CACNA1E):c.2523C>G (p.Ala841=)
|
|
|
NM_001205293.3(CACNA1E):c.2526G>A (p.Leu842=)
|
|
|
NM_001205293.3(CACNA1E):c.2534T>C (p.Phe845Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2535C>A (p.Phe845Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2536G>A (p.Glu846Lys)
|
rs776705172
|
|
NM_001205293.3(CACNA1E):c.2544G>A (p.Glu848=)
|
|
|
NM_001205293.3(CACNA1E):c.2545C>T (p.Arg849Cys)
|
|
|
NM_001205293.3(CACNA1E):c.2548A>G (p.Ile850Val)
|
|
|
NM_001205293.3(CACNA1E):c.2552G>A (p.Ser851Asn)
|
|
|
NM_001205293.3(CACNA1E):c.2554C>T (p.Arg852Cys)
|
|
|
NM_001205293.3(CACNA1E):c.2561G>A (p.Gly854Glu)
|
|
|
NM_001205293.3(CACNA1E):c.2562del (p.Ser855fs)
|
|
|
NM_001205293.3(CACNA1E):c.2564C>T (p.Ser855Phe)
|
|
|
NM_001205293.3(CACNA1E):c.2570A>C (p.Lys857Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2574G>A (p.Gly858=)
|
rs755792935
|
|
NM_001205293.3(CACNA1E):c.2574G>C (p.Gly858=)
|
|
|
NM_001205293.3(CACNA1E):c.2584G>A (p.Asp862Asn)
|
|
|
NM_001205293.3(CACNA1E):c.2587C>G (p.Arg863Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2594G>A (p.Ser865Asn)
|
rs2102551197
|
|
NM_001205293.3(CACNA1E):c.2596G>A (p.Ala866Thr)
|
|
|
NM_001205293.3(CACNA1E):c.259G>T (p.Asp87Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.2607C>T (p.Asn869=)
|
|
|
NM_001205293.3(CACNA1E):c.2608C>A (p.Gln870Lys)
|
rs2102551312
|
|
NM_001205293.3(CACNA1E):c.2608C>G (p.Gln870Glu)
|
|
|
NM_001205293.3(CACNA1E):c.2617C>T (p.Pro873Ser)
|
|
|
NM_001205293.3(CACNA1E):c.261T>C (p.Asp87=)
|
rs2102469769
|
|
NM_001205293.3(CACNA1E):c.2627T>G (p.Leu876Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2631C>A (p.Gly877=)
|
|
|
NM_001205293.3(CACNA1E):c.2636G>A (p.Arg879Gln)
|
|
|
NM_001205293.3(CACNA1E):c.2636G>T (p.Arg879Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2638G>A (p.Glu880Lys)
|
|
|
NM_001205293.3(CACNA1E):c.2642C>A (p.Pro881Gln)
|
|
|
NM_001205293.3(CACNA1E):c.2646A>G (p.Pro882=)
|
|
|
NM_001205293.3(CACNA1E):c.264G>T (p.Trp88Cys)
|
|
|
NM_001205293.3(CACNA1E):c.2653G>A (p.Ala885Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2654C>A (p.Ala885Asp)
|
|
|
NM_001205293.3(CACNA1E):c.2656A>G (p.Arg886Gly)
|
|
|
NM_001205293.3(CACNA1E):c.265C>T (p.Pro89Ser)
|
rs1663550401
|
|
NM_001205293.3(CACNA1E):c.266+11T>C
|
|
|
NM_001205293.3(CACNA1E):c.266+19C>A
|
|
|
NM_001205293.3(CACNA1E):c.266+19C>T
|
|
|
NM_001205293.3(CACNA1E):c.266+20A>G
|
|
|
NM_001205293.3(CACNA1E):c.2663G>A (p.Cys888Tyr)
|
rs776110155
|
|
NM_001205293.3(CACNA1E):c.2663G>C (p.Cys888Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2666A>G (p.His889Arg)
|
|
|
NM_001205293.3(CACNA1E):c.2669G>A (p.Gly890Glu)
|
|
|
NM_001205293.3(CACNA1E):c.267-10G>A
|
|
|
NM_001205293.3(CACNA1E):c.267-10G>T
|
rs368533867
|
|
NM_001205293.3(CACNA1E):c.267-11C>T
|
|
|
NM_001205293.3(CACNA1E):c.267-16A>C
|
|
|
NM_001205293.3(CACNA1E):c.267-6T>G
|
rs2102618150
|
|
NM_001205293.3(CACNA1E):c.2680C>A (p.Pro894Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2685T>C (p.Thr895=)
|
|
|
NM_001205293.3(CACNA1E):c.2687A>G (p.Gln896Arg)
|
rs2102551845
|
|
NM_001205293.3(CACNA1E):c.2695G>T (p.Ala899Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2696C>A (p.Ala899Glu)
|
|
|
NM_001205293.3(CACNA1E):c.2699G>C (p.Gly900Ala)
|
|
|
NM_001205293.3(CACNA1E):c.2699G>T (p.Gly900Val)
|
|
|
NM_001205293.3(CACNA1E):c.2702G>A (p.Gly901Glu)
|
|
|
NM_001205293.3(CACNA1E):c.2705G>A (p.Gly902Glu)
|
rs1291056979
|
|
NM_001205293.3(CACNA1E):c.2731C>G (p.Arg911Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2731C>T (p.Arg911Trp)
|
|
|
NM_001205293.3(CACNA1E):c.2732G>C (p.Arg911Pro)
|
rs781514358
|
|
NM_001205293.3(CACNA1E):c.2734G>A (p.Ala912Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2734G>T (p.Ala912Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2735C>G (p.Ala912Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2748G>A (p.Gln916=)
|
|
|
NM_001205293.3(CACNA1E):c.2749A>G (p.Ser917Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2754A>G (p.Gln918=)
|
|
|
NM_001205293.3(CACNA1E):c.2759G>A (p.Arg920His)
|
|
|
NM_001205293.3(CACNA1E):c.2764C>A (p.Arg922=)
|
rs767745136
|
|
NM_001205293.3(CACNA1E):c.2764C>T (p.Arg922Trp)
|
|
|
NM_001205293.3(CACNA1E):c.276G>A (p.Glu92=)
|
|
|
NM_001205293.3(CACNA1E):c.2770C>G (p.Arg924Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2771G>A (p.Arg924His)
|
|
|
NM_001205293.3(CACNA1E):c.2776G>A (p.Val926Ile)
|
rs370910420
|
|
NM_001205293.3(CACNA1E):c.2779A>G (p.Arg927Gly)
|
|
|
NM_001205293.3(CACNA1E):c.2781G>A (p.Arg927=)
|
rs552089340
|
|
NM_001205293.3(CACNA1E):c.2785G>C (p.Glu929Gln)
|
|
|
NM_001205293.3(CACNA1E):c.2788G>A (p.Gly930Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2791A>G (p.Lys931Glu)
|
|
|
NM_001205293.3(CACNA1E):c.2795A>T (p.Glu932Val)
|
|
|
NM_001205293.3(CACNA1E):c.2798C>T (p.Ser933Phe)
|
rs2102553017
|
|
NM_001205293.3(CACNA1E):c.2799C>T (p.Ser933=)
|
|
|
NM_001205293.3(CACNA1E):c.2804C>T (p.Ser935Leu)
|
rs2102553064
|
|
NM_001205293.3(CACNA1E):c.2807C>T (p.Ala936Val)
|
|
|
NM_001205293.3(CACNA1E):c.2808C>T (p.Ala936=)
|
|
|
NM_001205293.3(CACNA1E):c.280A>G (p.Met94Val)
|
|
|
NM_001205293.3(CACNA1E):c.2810C>T (p.Ser937Phe)
|
|
|
NM_001205293.3(CACNA1E):c.2816G>A (p.Ser939Asn)
|
|
|
NM_001205293.3(CACNA1E):c.2820G>T (p.Arg940Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2829C>T (p.Ser943=)
|
|
|
NM_001205293.3(CACNA1E):c.2836C>T (p.Arg946Cys)
|
|
|
NM_001205293.3(CACNA1E):c.2837G>A (p.Arg946His)
|
|
|
NM_001205293.3(CACNA1E):c.2851G>A (p.Ala951Thr)
|
rs2102553424
|
|
NM_001205293.3(CACNA1E):c.2854A>G (p.Met952Val)
|
|
|
NM_001205293.3(CACNA1E):c.2855T>C (p.Met952Thr)
|
|
|
NM_001205293.3(CACNA1E):c.2858C>T (p.Pro953Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2859C>A (p.Pro953=)
|
|
|
NM_001205293.3(CACNA1E):c.2859C>T (p.Pro953=)
|
rs368664580
|
|
NM_001205293.3(CACNA1E):c.2868G>C (p.Gly956=)
|
|
|
NM_001205293.3(CACNA1E):c.2869G>A (p.Glu957Lys)
|
|
|
NM_001205293.3(CACNA1E):c.2871G>A (p.Glu957=)
|
|
|
NM_001205293.3(CACNA1E):c.2876A>C (p.Asp959Ala)
|
|
|
NM_001205293.3(CACNA1E):c.2891G>A (p.Gly964Asp)
|
|
|
NM_001205293.3(CACNA1E):c.2898T>G (p.His966Gln)
|
|
|
NM_001205293.3(CACNA1E):c.2899G>A (p.Gly967Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2909A>T (p.Glu970Val)
|
|
|
NM_001205293.3(CACNA1E):c.290C>T (p.Ala97Val)
|
|
|
NM_001205293.3(CACNA1E):c.2911C>A (p.Pro971Thr)
|
rs1655663153
|
|
NM_001205293.3(CACNA1E):c.2915C>T (p.Thr972Met)
|
|
|
NM_001205293.3(CACNA1E):c.2916G>A (p.Thr972=)
|
|
|
NM_001205293.3(CACNA1E):c.291C>A (p.Ala97=)
|
|
|
NM_001205293.3(CACNA1E):c.2920C>T (p.Gln974Ter)
|
|
|
NM_001205293.3(CACNA1E):c.2923G>A (p.Glu975Lys)
|
|
|
NM_001205293.3(CACNA1E):c.2934C>T (p.Ala978=)
|
|
|
NM_001205293.3(CACNA1E):c.2947_2948+1del
|
|
|
NM_001205293.3(CACNA1E):c.2948+14A>G
|
|
|
NM_001205293.3(CACNA1E):c.2948+1G>A
|
|
|
NM_001205293.3(CACNA1E):c.2948+4A>G
|
|
|
NM_001205293.3(CACNA1E):c.2948+6T>C
|
|
|
NM_001205293.3(CACNA1E):c.2949-10C>T
|
|
|
NM_001205293.3(CACNA1E):c.2949-14C>G
|
|
|
NM_001205293.3(CACNA1E):c.2949-14CT[3]
|
|
|
NM_001205293.3(CACNA1E):c.2949-14_2949-5del
|
|
|
NM_001205293.3(CACNA1E):c.2949-3C>T
|
|
|
NM_001205293.3(CACNA1E):c.2949-8C>G
|
|
|
NM_001205293.3(CACNA1E):c.2962A>C (p.Met988Leu)
|
|
|
NM_001205293.3(CACNA1E):c.2963T>G (p.Met988Arg)
|
rs2102556650
|
|
NM_001205293.3(CACNA1E):c.2964G>A (p.Met988Ile)
|
|
|
NM_001205293.3(CACNA1E):c.2974G>A (p.Gly992Ser)
|
|
|
NM_001205293.3(CACNA1E):c.2975G>T (p.Gly992Val)
|
|
|
NM_001205293.3(CACNA1E):c.2977T>C (p.Ser993Pro)
|
|
|
NM_001205293.3(CACNA1E):c.2981G>A (p.Gly994Glu)
|
|
|
NM_001205293.3(CACNA1E):c.2982G>T (p.Gly994=)
|
|
|
NM_001205293.3(CACNA1E):c.2985G>T (p.Leu995=)
|
|
|
NM_001205293.3(CACNA1E):c.2991A>G (p.Gly997=)
|
|
|
NM_001205293.3(CACNA1E):c.3004G>C (p.Ala1002Pro)
|
|
|
NM_001205293.3(CACNA1E):c.3011C>A (p.Thr1004Asn)
|
rs1655719165
|
|
NM_001205293.3(CACNA1E):c.3011C>G (p.Thr1004Ser)
|
rs1655719165
|
|
NM_001205293.3(CACNA1E):c.3014C>G (p.Pro1005Arg)
|
|
|
NM_001205293.3(CACNA1E):c.3014C>T (p.Pro1005Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3015C>G (p.Pro1005=)
|
rs373175706
|
|
NM_001205293.3(CACNA1E):c.3021C>T (p.Val1007=)
|
|
|
NM_001205293.3(CACNA1E):c.3022C>G (p.Leu1008Val)
|
|
|
NM_001205293.3(CACNA1E):c.3028C>T (p.His1010Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.3045G>A (p.Val1015=)
|
|
|
NM_001205293.3(CACNA1E):c.3047G>A (p.Gly1016Glu)
|
|
|
NM_001205293.3(CACNA1E):c.3048G>T (p.Gly1016=)
|
|
|
NM_001205293.3(CACNA1E):c.3050A>C (p.Lys1017Thr)
|
|
|
NM_001205293.3(CACNA1E):c.3052C>T (p.His1018Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.3054C>A (p.His1018Gln)
|
rs377580656
|
|
NM_001205293.3(CACNA1E):c.3054_3059del (p.His1018_Val1020delinsGln)
|
|
|
NM_001205293.3(CACNA1E):c.3055G>T (p.Val1019Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3056T>G (p.Val1019Gly)
|
|
|
NM_001205293.3(CACNA1E):c.3067G>C (p.Glu1023Gln)
|
|
|
NM_001205293.3(CACNA1E):c.306C>T (p.Asn102=)
|
|
|
NM_001205293.3(CACNA1E):c.3071A>G (p.Gln1024Arg)
|
|
|
NM_001205293.3(CACNA1E):c.3073G>A (p.Glu1025Lys)
|
rs747813929
|
|
NM_001205293.3(CACNA1E):c.3077C>T (p.Pro1026Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3078A>G (p.Pro1026=)
|
rs2102557680
|
|
NM_001205293.3(CACNA1E):c.3084C>T (p.Gly1028=)
|
|
|
NM_001205293.3(CACNA1E):c.3086G>A (p.Ser1029Asn)
|
|
|
NM_001205293.3(CACNA1E):c.3089G>A (p.Ser1030Asn)
|
rs1334265515
|
|
NM_001205293.3(CACNA1E):c.3090T>G (p.Ser1030Arg)
|
|
|
NM_001205293.3(CACNA1E):c.3097G>A (p.Ala1033Thr)
|
|
|
NM_001205293.3(CACNA1E):c.3099C>T (p.Ala1033=)
|
|
|
NM_001205293.3(CACNA1E):c.3100C>T (p.Leu1034=)
|
|
|
NM_001205293.3(CACNA1E):c.3107G>A (p.Gly1036Glu)
|
|
|
NM_001205293.3(CACNA1E):c.3112G>A (p.Val1038Met)
|
|
|
NM_001205293.3(CACNA1E):c.3116A>T (p.Gln1039Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3124A>T (p.Met1042Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3126G>A (p.Met1042Ile)
|
|
|
NM_001205293.3(CACNA1E):c.3135C>G (p.Val1045=)
|
|
|
NM_001205293.3(CACNA1E):c.3150G>A (p.Glu1050=)
|
rs2102558261
|
|
NM_001205293.3(CACNA1E):c.3156C>G (p.Asp1052Glu)
|
|
|
NM_001205293.3(CACNA1E):c.3162C>T (p.Ser1054=)
|
|
|
NM_001205293.3(CACNA1E):c.3164G>A (p.Cys1055Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.3171G>A (p.Thr1057=)
|
|
|
NM_001205293.3(CACNA1E):c.3171G>T (p.Thr1057=)
|
|
|
NM_001205293.3(CACNA1E):c.3173C>T (p.Ala1058Val)
|
|
|
NM_001205293.3(CACNA1E):c.3192C>T (p.Thr1064=)
|
|
|
NM_001205293.3(CACNA1E):c.3208G>A (p.Val1070Ile)
|
|
|
NM_001205293.3(CACNA1E):c.3213C>G (p.Thr1071=)
|
|
|
NM_001205293.3(CACNA1E):c.3216C>T (p.Val1072=)
|
rs755291819
|
|
NM_001205293.3(CACNA1E):c.3217G>A (p.Ala1073Thr)
|
rs373647895
|
|
NM_001205293.3(CACNA1E):c.322C>T (p.Leu108=)
|
|
|
NM_001205293.3(CACNA1E):c.3230T>G (p.Val1077Gly)
|
|
|
NM_001205293.3(CACNA1E):c.3232G>C (p.Asp1078His)
|
|
|
NM_001205293.3(CACNA1E):c.3233A>G (p.Asp1078Gly)
|
rs1655753199
|
|
NM_001205293.3(CACNA1E):c.3235C>T (p.Pro1079Ser)
|
rs1007809575
|
|
NM_001205293.3(CACNA1E):c.3236C>T (p.Pro1079Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3259C>G (p.His1087Asp)
|
rs371930330
|
|
NM_001205293.3(CACNA1E):c.3262+11A>G
|
rs372089460
|
|
NM_001205293.3(CACNA1E):c.3262+12G>A
|
|
|
NM_001205293.3(CACNA1E):c.3262+18G>A
|
|
|
NM_001205293.3(CACNA1E):c.3262+20T>C
|
|
|
NM_001205293.3(CACNA1E):c.3262+6_3262+7del
|
|
|
NM_001205293.3(CACNA1E):c.3262+7G>A
|
|
|
NM_001205293.3(CACNA1E):c.3263-10C>T
|
|
|
NM_001205293.3(CACNA1E):c.3263-12T>A
|
|
|
NM_001205293.3(CACNA1E):c.3263-9C>T
|
|
|
NM_001205293.3(CACNA1E):c.3266G>A (p.Ser1089Asn)
|
rs1656022956
|
|
NM_001205293.3(CACNA1E):c.3267C>T (p.Ser1089=)
|
|
|
NM_001205293.3(CACNA1E):c.3272A>C (p.Lys1091Thr)
|
rs2102575093
|
|
NM_001205293.3(CACNA1E):c.3279T>C (p.Asp1093=)
|
|
|
NM_001205293.3(CACNA1E):c.3282G>C (p.Gly1094=)
|
|
|
NM_001205293.3(CACNA1E):c.3286G>T (p.Ala1096Ser)
|
|
|
NM_001205293.3(CACNA1E):c.3294C>T (p.Pro1098=)
|
|
|
NM_001205293.3(CACNA1E):c.3295T>A (p.Leu1099Met)
|
|
|
NM_001205293.3(CACNA1E):c.3298A>G (p.Lys1100Glu)
|
|
|
NM_001205293.3(CACNA1E):c.3304G>T (p.Ala1102Ser)
|
|
|
NM_001205293.3(CACNA1E):c.3306A>C (p.Ala1102=)
|
|
|
NM_001205293.3(CACNA1E):c.3309G>A (p.Glu1103=)
|
|
|
NM_001205293.3(CACNA1E):c.3330G>T (p.Glu1110Asp)
|
rs1656028708
|
|
NM_001205293.3(CACNA1E):c.3331G>C (p.Val1111Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3331G>T (p.Val1111Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3336G>A (p.Glu1112=)
|
|
|
NM_001205293.3(CACNA1E):c.3336G>T (p.Glu1112Asp)
|
|
|
NM_001205293.3(CACNA1E):c.3337AAG[2] (p.Lys1115del)
|
|
|
NM_001205293.3(CACNA1E):c.3343A>C (p.Lys1115Gln)
|
|
|
NM_001205293.3(CACNA1E):c.3349A>T (p.Lys1117Ter)
|
|
|
NM_001205293.3(CACNA1E):c.3349AAG[1] (p.Lys1118del)
|
rs947294734
|
|
NM_001205293.3(CACNA1E):c.3353A>T (p.Lys1118Met)
|
|
|
NM_001205293.3(CACNA1E):c.3362G>T (p.Arg1121Leu)
|
rs370899738
|
|
NM_001205293.3(CACNA1E):c.3363T>A (p.Arg1121=)
|
rs755700109
|
|
NM_001205293.3(CACNA1E):c.3367A>G (p.Thr1123Ala)
|
|
|
NM_001205293.3(CACNA1E):c.336T>G (p.Leu112=)
|
|
|
NM_001205293.3(CACNA1E):c.3373A>G (p.Lys1125Glu)
|
|
|
NM_001205293.3(CACNA1E):c.3376G>A (p.Ala1126Thr)
|
|
|
NM_001205293.3(CACNA1E):c.3376G>T (p.Ala1126Ser)
|
rs1378877596
|
|
NM_001205293.3(CACNA1E):c.3379A>G (p.Met1127Val)
|
|
|
NM_001205293.3(CACNA1E):c.3384G>T (p.Val1128=)
|
|
|
NM_001205293.3(CACNA1E):c.3385C>G (p.Pro1129Ala)
|
|
|
NM_001205293.3(CACNA1E):c.3385C>T (p.Pro1129Ser)
|
|
|
NM_001205293.3(CACNA1E):c.3390C>T (p.His1130=)
|
|
|
NM_001205293.3(CACNA1E):c.3393C>T (p.Ser1131=)
|
|
|
NM_001205293.3(CACNA1E):c.3397A>G (p.Met1133Val)
|
|
|
NM_001205293.3(CACNA1E):c.33G>A (p.Arg11=)
|
|
|
NM_001205293.3(CACNA1E):c.3403A>G (p.Ile1135Val)
|
|
|
NM_001205293.3(CACNA1E):c.3408C>T (p.Phe1136=)
|
rs1656037813
|
|
NM_001205293.3(CACNA1E):c.3417C>T (p.Thr1139=)
|
|
|
NM_001205293.3(CACNA1E):c.3422+10C>T
|
rs1468612771
|
|
NM_001205293.3(CACNA1E):c.3422+13C>G
|
rs1175956767
|
|
NM_001205293.3(CACNA1E):c.3422+13C>T
|
|
|
NM_001205293.3(CACNA1E):c.3422+14G>A
|
|
|
NM_001205293.3(CACNA1E):c.3422+7C>G
|
|
|
NM_001205293.3(CACNA1E):c.3422C>T (p.Pro1141Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3423-10C>T
|
|
|
NM_001205293.3(CACNA1E):c.3423-121C>T
|
rs73045106
|
|
NM_001205293.3(CACNA1E):c.3423-15G>A
|
|
|
NM_001205293.3(CACNA1E):c.3423-17A>G
|
rs1656154750
|
|
NM_001205293.3(CACNA1E):c.3423-4G>A
|
|
|
NM_001205293.3(CACNA1E):c.3423-4G>C
|
|
|
NM_001205293.3(CACNA1E):c.3423-4G>T
|
|
|
NM_001205293.3(CACNA1E):c.3423-9T>G
|
|
|
NM_001205293.3(CACNA1E):c.3432G>A (p.Arg1144=)
|
|
|
NM_001205293.3(CACNA1E):c.3432G>C (p.Arg1144Ser)
|
|
|
NM_001205293.3(CACNA1E):c.3433G>A (p.Ala1145Thr)
|
|
|
NM_001205293.3(CACNA1E):c.3434C>A (p.Ala1145Asp)
|
|
|
NM_001205293.3(CACNA1E):c.343G>A (p.Asp115Asn)
|
|
|
NM_001205293.3(CACNA1E):c.3441C>G (p.His1147Gln)
|
|
|
NM_001205293.3(CACNA1E):c.3444C>T (p.Tyr1148=)
|
|
|
NM_001205293.3(CACNA1E):c.3445A>G (p.Ile1149Val)
|
|
|
NM_001205293.3(CACNA1E):c.3449T>C (p.Val1150Ala)
|
|
|
NM_001205293.3(CACNA1E):c.3477C>A (p.Ile1159=)
|
rs1170494441
|
|
NM_001205293.3(CACNA1E):c.3489T>C (p.Ile1163=)
|
|
|
NM_001205293.3(CACNA1E):c.348C>T (p.Asp116=)
|
|
|
NM_001205293.3(CACNA1E):c.3498C>T (p.Ser1166=)
|
|
|
NM_001205293.3(CACNA1E):c.3502A>G (p.Ile1168Val)
|
|
|
NM_001205293.3(CACNA1E):c.3505G>A (p.Ala1169Thr)
|
|
|
NM_001205293.3(CACNA1E):c.3508C>T (p.Leu1170=)
|
|
|
NM_001205293.3(CACNA1E):c.3510GGC[1] (p.Ala1172del)
|
|
|
NM_001205293.3(CACNA1E):c.3512C>T (p.Ala1171Val)
|
rs968528269
|
|
NM_001205293.3(CACNA1E):c.3536A>G (p.Asn1179Ser)
|
|
|
NM_001205293.3(CACNA1E):c.3540G>T (p.Ser1180=)
|
|
|
NM_001205293.3(CACNA1E):c.3541G>C (p.Glu1181Gln)
|
|
|
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys)
|
rs759093976
|
|
NM_001205293.3(CACNA1E):c.3545G>A (p.Arg1182His)
|
|
|
NM_001205293.3(CACNA1E):c.3549C>T (p.Asn1183=)
|
|
|
NM_001205293.3(CACNA1E):c.354C>A (p.Thr118=)
|
rs565318461
|
|
NM_001205293.3(CACNA1E):c.3552+11A>G
|
|
|
NM_001205293.3(CACNA1E):c.3552+14G>T
|
rs1656176253
|
|
NM_001205293.3(CACNA1E):c.3552+15G>A
|
|
|
NM_001205293.3(CACNA1E):c.3552+17C>G
|
|
|
NM_001205293.3(CACNA1E):c.3553-93G>A
|
rs11809526
|
|
NM_001205293.3(CACNA1E):c.3553-9G>A
|
|
|
NM_001205293.3(CACNA1E):c.3556C>T (p.Leu1186=)
|
|
|
NM_001205293.3(CACNA1E):c.3561G>A (p.Arg1187=)
|
|
|
NM_001205293.3(CACNA1E):c.3574G>A (p.Val1192Met)
|
|
|
NM_001205293.3(CACNA1E):c.3574G>C (p.Val1192Leu)
|
rs2102588857
|
|
NM_001205293.3(CACNA1E):c.3581C>T (p.Thr1194Met)
|
|
|
NM_001205293.3(CACNA1E):c.3585C>A (p.Gly1195=)
|
|
|
NM_001205293.3(CACNA1E):c.3586G>A (p.Val1196Met)
|
|
|
NM_001205293.3(CACNA1E):c.3588G>C (p.Val1196=)
|
|
|
NM_001205293.3(CACNA1E):c.3591C>T (p.Phe1197=)
|
|
|
NM_001205293.3(CACNA1E):c.3609A>G (p.Ile1203Met)
|
|
|
NM_001205293.3(CACNA1E):c.3613-18G>A
|
|
|
NM_001205293.3(CACNA1E):c.3613-4G>T
|
|
|
NM_001205293.3(CACNA1E):c.3613-6C>G
|
rs2102592786
|
|
NM_001205293.3(CACNA1E):c.3613A>T (p.Met1205Leu)
|
|
|
NM_001205293.3(CACNA1E):c.3621C>T (p.Asp1207=)
|
|
|
NM_001205293.3(CACNA1E):c.3630G>A (p.Leu1210=)
|
|
|
NM_001205293.3(CACNA1E):c.3641A>G (p.Asp1214Gly)
|
|
|
NM_001205293.3(CACNA1E):c.364C>T (p.Arg122Ter)
|
rs2102618557
|
|
NM_001205293.3(CACNA1E):c.365G>A (p.Arg122Gln)
|
|
|
NM_001205293.3(CACNA1E):c.3673C>T (p.Leu1225=)
|
|
|
NM_001205293.3(CACNA1E):c.3675G>A (p.Leu1225=)
|
|
|
NM_001205293.3(CACNA1E):c.3684G>A (p.Val1228=)
|
|
|
NM_001205293.3(CACNA1E):c.3692T>C (p.Val1231Ala)
|
|
|
NM_001205293.3(CACNA1E):c.3699A>G (p.Ala1233=)
|
|
|
NM_001205293.3(CACNA1E):c.369A>T (p.Arg123Ser)
|
|
|
NM_001205293.3(CACNA1E):c.3719+12_3719+16del
|
|
|
NM_001205293.3(CACNA1E):c.3719+143C>G
|
rs150969246
|
|
NM_001205293.3(CACNA1E):c.3719+14T>G
|
|
|
NM_001205293.3(CACNA1E):c.3719+17A>G
|
|
|
NM_001205293.3(CACNA1E):c.3719+17A>T
|
|
|
NM_001205293.3(CACNA1E):c.3719+1G>A
|
|
|
NM_001205293.3(CACNA1E):c.372+11C>G
|
|
|
NM_001205293.3(CACNA1E):c.372+14del
|
rs1448472568
|
|
NM_001205293.3(CACNA1E):c.372+19T>C
|
|
|
NM_001205293.3(CACNA1E):c.372+19_372+21del
|
|
|
NM_001205293.3(CACNA1E):c.372+20C>T
|
|
|
NM_001205293.3(CACNA1E):c.372+218A>G
|
rs632026
|
|
NM_001205293.3(CACNA1E):c.372+3A>T
|
|
|
NM_001205293.3(CACNA1E):c.372+4T>A
|
|
|
NM_001205293.3(CACNA1E):c.372+5_372+18del
|
|
|
NM_001205293.3(CACNA1E):c.372+7G>A
|
|
|
NM_001205293.3(CACNA1E):c.372+8A>G
|
|
|
NM_001205293.3(CACNA1E):c.3720-12G>A
|
rs1657493278
|
|
NM_001205293.3(CACNA1E):c.3720-5C>T
|
|
|
NM_001205293.3(CACNA1E):c.3720-6C>T
|
|
|
NM_001205293.3(CACNA1E):c.3720-8C>T
|
|
|
NM_001205293.3(CACNA1E):c.3720G>T (p.Ala1240=)
|
|
|
NM_001205293.3(CACNA1E):c.3722A>G (p.Asn1241Ser)
|
|
|
NM_001205293.3(CACNA1E):c.373-8C>T
|
|
|
NM_001205293.3(CACNA1E):c.373-9T>C
|
|
|
NM_001205293.3(CACNA1E):c.3731+10_3731+13del
|
|
|
NM_001205293.3(CACNA1E):c.3731+11T>C
|
|
|
NM_001205293.3(CACNA1E):c.3731+12C>T
|
|
|
NM_001205293.3(CACNA1E):c.3731+13G>C
|
|
|
NM_001205293.3(CACNA1E):c.3731+17_3731+20dup
|
|
|
NM_001205293.3(CACNA1E):c.3731+19C>A
|
|
|
NM_001205293.3(CACNA1E):c.3731+7A>G
|
|
|
NM_001205293.3(CACNA1E):c.3731+9G>A
|
|
|
NM_001205293.3(CACNA1E):c.3731G>C (p.Gly1244Ala)
|
|
|
NM_001205293.3(CACNA1E):c.3732-10T>C
|
|
|
NM_001205293.3(CACNA1E):c.3732-15dup
|
rs2102664475
|
|
NM_001205293.3(CACNA1E):c.3732-3C>T
|
|
|
NM_001205293.3(CACNA1E):c.3738C>A (p.Asn1246Lys)
|
|
|
NM_001205293.3(CACNA1E):c.3748G>A (p.Asp1250Asn)
|
|
|
NM_001205293.3(CACNA1E):c.3773G>A (p.Arg1258Gln)
|
|
|
NM_001205293.3(CACNA1E):c.3782G>A (p.Arg1261Gln)
|
|
|
NM_001205293.3(CACNA1E):c.3795A>G (p.Pro1265=)
|
|
|
NM_001205293.3(CACNA1E):c.3823C>G (p.Leu1275Val)
|
|
|
NM_001205293.3(CACNA1E):c.3828+14_3828+15del
|
rs764803601
|
|
NM_001205293.3(CACNA1E):c.3828+19G>C
|
|
|
NM_001205293.3(CACNA1E):c.3828+2T>C
|
|
|
NM_001205293.3(CACNA1E):c.3828+43A>G
|
rs188477220
|
|
NM_001205293.3(CACNA1E):c.3828+5T>A
|
|
|
NM_001205293.3(CACNA1E):c.3829-10C>G
|
|
|
NM_001205293.3(CACNA1E):c.3829-1G>T
|
|
|
NM_001205293.3(CACNA1E):c.3829-20G>T
|
|
|
NM_001205293.3(CACNA1E):c.382G>A (p.Glu128Lys)
|
rs1064795779
|
|
NM_001205293.3(CACNA1E):c.3831C>A (p.Ala1277=)
|
rs151199991
|
|
NM_001205293.3(CACNA1E):c.3847G>A (p.Val1283Met)
|
|
|
NM_001205293.3(CACNA1E):c.3851C>T (p.Thr1284Ile)
|
|
|
NM_001205293.3(CACNA1E):c.3855C>T (p.Ser1285=)
|
|
|
NM_001205293.3(CACNA1E):c.3858G>A (p.Leu1286=)
|
rs1657991047
|
|
NM_001205293.3(CACNA1E):c.3870C>T (p.Phe1290=)
|
rs867024388
|
|
NM_001205293.3(CACNA1E):c.3879C>T (p.Leu1293=)
|
|
|
NM_001205293.3(CACNA1E):c.3882T>C (p.Ile1294=)
|
|
|
NM_001205293.3(CACNA1E):c.3898A>G (p.Met1300Val)
|
rs1033599027
|
|
NM_001205293.3(CACNA1E):c.3918C>T (p.Ile1306=)
|
|
|
NM_001205293.3(CACNA1E):c.3927G>A (p.Gln1309=)
|
|
|
NM_001205293.3(CACNA1E):c.3941A>G (p.Lys1314Arg)
|
|
|
NM_001205293.3(CACNA1E):c.3942G>A (p.Lys1314=)
|
|
|
NM_001205293.3(CACNA1E):c.3954C>T (p.Cys1318=)
|
|
|
NM_001205293.3(CACNA1E):c.3956C>T (p.Thr1319Met)
|
|
|
NM_001205293.3(CACNA1E):c.3957G>A (p.Thr1319=)
|
|
|
NM_001205293.3(CACNA1E):c.3957G>T (p.Thr1319=)
|
|
|
NM_001205293.3(CACNA1E):c.395T>C (p.Ile132Thr)
|
|
|
NM_001205293.3(CACNA1E):c.3965C>T (p.Ser1322Phe)
|
|
|
NM_001205293.3(CACNA1E):c.3966C>G (p.Ser1322=)
|
|
|
NM_001205293.3(CACNA1E):c.3970G>C (p.Asp1324His)
|
|
|
NM_001205293.3(CACNA1E):c.3984G>A (p.Glu1328=)
|
|
|
NM_001205293.3(CACNA1E):c.3984G>T (p.Glu1328Asp)
|
rs779159820
|
|
NM_001205293.3(CACNA1E):c.3989+11C>A
|
|
|
NM_001205293.3(CACNA1E):c.3989+11C>T
|
|
|
NM_001205293.3(CACNA1E):c.3989+15C>T
|
|
|
NM_001205293.3(CACNA1E):c.3989+6T>C
|
rs2102682335
|
|
NM_001205293.3(CACNA1E):c.3989T>C (p.Ile1330Thr)
|
|
|
NM_001205293.3(CACNA1E):c.3990-12_3990-8dup
|
rs766369669
|
|
NM_001205293.3(CACNA1E):c.3990-13G>C
|
|
|
NM_001205293.3(CACNA1E):c.3990-18T>C
|
|
|
NM_001205293.3(CACNA1E):c.3999T>C (p.Tyr1333=)
|
rs571643478
|
|
NM_001205293.3(CACNA1E):c.39G>A (p.Gly13=)
|
rs1663517104
|
|
NM_001205293.3(CACNA1E):c.4008_4009inv (p.Glu1337Lys)
|
|
|
NM_001205293.3(CACNA1E):c.4034G>C (p.Gly1345Ala)
|
|
|
NM_001205293.3(CACNA1E):c.4047G>A (p.Lys1349=)
|
rs2102685079
|
|
NM_001205293.3(CACNA1E):c.4049G>A (p.Arg1350His)
|
|
|
NM_001205293.3(CACNA1E):c.4050C>T (p.Arg1350=)
|
rs2102685121
|
|
NM_001205293.3(CACNA1E):c.4056A>G (p.Glu1352=)
|
rs2102685200
|
|
NM_001205293.3(CACNA1E):c.4066G>A (p.Asp1356Asn)
|
|
|
NM_001205293.3(CACNA1E):c.406T>G (p.Cys136Gly)
|
|
|
NM_001205293.3(CACNA1E):c.4086G>A (p.Leu1362=)
|
|
|
NM_001205293.3(CACNA1E):c.4092C>G (p.Thr1364=)
|
|
|
NM_001205293.3(CACNA1E):c.4101C>A (p.Thr1367=)
|
rs147656925
|
|
NM_001205293.3(CACNA1E):c.4101C>T (p.Thr1367=)
|
rs147656925
|
|
NM_001205293.3(CACNA1E):c.4107C>T (p.Ser1369=)
|
|
|
NM_001205293.3(CACNA1E):c.4108A>G (p.Thr1370Ala)
|
rs2102685449
|
|
NM_001205293.3(CACNA1E):c.4109C>A (p.Thr1370Lys)
|
|
|
NM_001205293.3(CACNA1E):c.4114G>A (p.Glu1372Lys)
|
|
|
NM_001205293.3(CACNA1E):c.4117G>T (p.Gly1373Ter)
|
|
|
NM_001205293.3(CACNA1E):c.4127+13G>A
|
|
|
NM_001205293.3(CACNA1E):c.4127+19A>C
|
|
|
NM_001205293.3(CACNA1E):c.4128-10G>A
|
|
|
NM_001205293.3(CACNA1E):c.4128-10G>C
|
|
|
NM_001205293.3(CACNA1E):c.4138C>T (p.His1380Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.4140C>T (p.His1380=)
|
rs1658139747
|
|
NM_001205293.3(CACNA1E):c.4149T>C (p.Asp1383=)
|
|
|
NM_001205293.3(CACNA1E):c.4166G>A (p.Arg1389Gln)
|
|
|
NM_001205293.3(CACNA1E):c.4177C>T (p.Arg1393Cys)
|
|
|
NM_001205293.3(CACNA1E):c.4184A>G (p.Asn1395Ser)
|
rs2102689310
|
|
NM_001205293.3(CACNA1E):c.4203C>G (p.Ile1401Met)
|
|
|
NM_001205293.3(CACNA1E):c.4209T>C (p.Tyr1403=)
|
|
|
NM_001205293.3(CACNA1E):c.4214T>C (p.Val1405Ala)
|
|
|
NM_001205293.3(CACNA1E):c.4218C>A (p.Tyr1406Ter)
|
|
|
NM_001205293.3(CACNA1E):c.4224G>C (p.Val1408=)
|
|
|
NM_001205293.3(CACNA1E):c.4247A>G (p.Asn1416Ser)
|
rs1085307578
|
|
NM_001205293.3(CACNA1E):c.4257G>A (p.Val1419=)
|
|
|
NM_001205293.3(CACNA1E):c.4258G>A (p.Ala1420Thr)
|
rs2102689581
|
|
NM_001205293.3(CACNA1E):c.4262TCA[5] (p.Ile1424_Thr1425insIle)
|
|
|
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe)
|
rs2102689621
|
|
NM_001205293.3(CACNA1E):c.4266C>A (p.Ile1422=)
|
|
|
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn)
|
rs2102689660
|
|
NM_001205293.3(CACNA1E):c.4280A>G (p.Gln1427Arg)
|
|
|
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg)
|
rs1553345844
|
|
NM_001205293.3(CACNA1E):c.4307A>C (p.Glu1436Ala)
|
rs2102689778
|
|
NM_001205293.3(CACNA1E):c.4308G>A (p.Glu1436=)
|
rs750597963
|
|
NM_001205293.3(CACNA1E):c.4314C>G (p.Ser1438Arg)
|
|
|
NM_001205293.3(CACNA1E):c.4314C>T (p.Ser1438=)
|
rs2102689827
|
|
NM_001205293.3(CACNA1E):c.4326T>C (p.Asn1442=)
|
|
|
NM_001205293.3(CACNA1E):c.4329+10A>G
|
|
|
NM_001205293.3(CACNA1E):c.4329+16C>T
|
|
|
NM_001205293.3(CACNA1E):c.4329+4del
|
|
|
NM_001205293.3(CACNA1E):c.4329+9A>G
|
|
|
NM_001205293.3(CACNA1E):c.4330-15A>G
|
|
|
NM_001205293.3(CACNA1E):c.4330-16C>T
|
|
|
NM_001205293.3(CACNA1E):c.4330-17C>A
|
|
|
NM_001205293.3(CACNA1E):c.4330-1G>A
|
|
|
NM_001205293.3(CACNA1E):c.4330-53A>T
|
rs12564606
|
|
NM_001205293.3(CACNA1E):c.4330-5T>C
|
rs2102694218
|
|
NM_001205293.3(CACNA1E):c.4330-9T>C
|
rs2102694195
|
|
NM_001205293.3(CACNA1E):c.4342G>A (p.Asp1448Asn)
|
rs2102694271
|
|
NM_001205293.3(CACNA1E):c.4344C>T (p.Asp1448=)
|
rs1457513688
|
|
NM_001205293.3(CACNA1E):c.4348G>A (p.Ala1450Thr)
|
|
|
NM_001205293.3(CACNA1E):c.4352T>C (p.Ile1451Thr)
|
|
|
NM_001205293.3(CACNA1E):c.4353C>G (p.Ile1451Met)
|
rs775005495
|
|
NM_001205293.3(CACNA1E):c.4356C>T (p.Ser1452=)
|
|
|
NM_001205293.3(CACNA1E):c.435C>T (p.Ala145=)
|
|
|
NM_001205293.3(CACNA1E):c.4365T>C (p.Pro1455=)
|
|
|
NM_001205293.3(CACNA1E):c.4372C>T (p.Arg1458Cys)
|
|
|
NM_001205293.3(CACNA1E):c.4377C>T (p.Tyr1459=)
|
|
|
NM_001205293.3(CACNA1E):c.4378A>G (p.Met1460Val)
|
|
|
NM_001205293.3(CACNA1E):c.4389C>G (p.Asn1463Lys)
|
|
|
NM_001205293.3(CACNA1E):c.4399T>C (p.Phe1467Leu)
|
|
|
NM_001205293.3(CACNA1E):c.4401C>T (p.Phe1467=)
|
|
|
NM_001205293.3(CACNA1E):c.4411G>A (p.Val1471Met)
|
rs915291484
|
|
NM_001205293.3(CACNA1E):c.441G>T (p.Gly147=)
|
|
|
NM_001205293.3(CACNA1E):c.4423G>T (p.Val1475Leu)
|
|
|
NM_001205293.3(CACNA1E):c.4432C>T (p.Pro1478Ser)
|
rs2102694851
|
|
NM_001205293.3(CACNA1E):c.4434G>A (p.Pro1478=)
|
|
|
NM_001205293.3(CACNA1E):c.4434G>T (p.Pro1478=)
|
rs766384673
|
|
NM_001205293.3(CACNA1E):c.4465G>T (p.Ala1489Ser)
|
|
|
NM_001205293.3(CACNA1E):c.446T>A (p.Ile149Asn)
|
|
|
NM_001205293.3(CACNA1E):c.4473T>C (p.Asn1491=)
|
rs1411334083
|
|
NM_001205293.3(CACNA1E):c.4477G>A (p.Val1493Ile)
|
|
|
NM_001205293.3(CACNA1E):c.4482G>A (p.Val1494=)
|
rs1423092491
|
|
NM_001205293.3(CACNA1E):c.4488G>A (p.Met1496Ile)
|
rs2102695116
|
|
NM_001205293.3(CACNA1E):c.4490T>C (p.Met1497Thr)
|
|
|
NM_001205293.3(CACNA1E):c.4494+18C>T
|
|
|
NM_001205293.3(CACNA1E):c.4494+19A>G
|
|
|
NM_001205293.3(CACNA1E):c.4494+7G>A
|
|
|
NM_001205293.3(CACNA1E):c.4495-18C>A
|
|
|
NM_001205293.3(CACNA1E):c.4495-22_4495-19del
|
|
|
NM_001205293.3(CACNA1E):c.4495-301T>C
|
rs199917
|
|
NM_001205293.3(CACNA1E):c.4495-3C>T
|
|
|
NM_001205293.3(CACNA1E):c.450C>T (p.Phe150=)
|
|
|
NM_001205293.3(CACNA1E):c.4515C>A (p.Thr1505=)
|
|
|
NM_001205293.3(CACNA1E):c.4515C>G (p.Thr1505=)
|
rs753384637
|
|
NM_001205293.3(CACNA1E):c.4524G>A (p.Leu1508=)
|
|
|
NM_001205293.3(CACNA1E):c.4556T>C (p.Met1519Thr)
|
|
|
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)
|
|
|
NM_001205293.3(CACNA1E):c.4573T>C (p.Cys1525Arg)
|
|
|
NM_001205293.3(CACNA1E):c.4582A>T (p.Lys1528Ter)
|
|
|
NM_001205293.3(CACNA1E):c.4590C>T (p.Ile1530=)
|
|
|
NM_001205293.3(CACNA1E):c.4591G>A (p.Ala1531Thr)
|
|
|
NM_001205293.3(CACNA1E):c.4599C>A (p.Gly1533=)
|
rs746008322
|
|
NM_001205293.3(CACNA1E):c.4599C>T (p.Gly1533=)
|
|
|
NM_001205293.3(CACNA1E):c.459C>T (p.Gly153=)
|
|
|
NM_001205293.3(CACNA1E):c.4605+4T>G
|
|
|
NM_001205293.3(CACNA1E):c.4606-10C>A
|
|
|
NM_001205293.3(CACNA1E):c.4606-15G>A
|
|
|
NM_001205293.3(CACNA1E):c.4606-5G>T
|
|
|
NM_001205293.3(CACNA1E):c.4606-9A>G
|
|
|
NM_001205293.3(CACNA1E):c.4615C>T (p.Arg1539Ter)
|
|
|
NM_001205293.3(CACNA1E):c.4621A>G (p.Thr1541Ala)
|
|
|
NM_001205293.3(CACNA1E):c.4623C>T (p.Thr1541=)
|
|
|
NM_001205293.3(CACNA1E):c.4630A>G (p.Ile1544Val)
|
|
|
NM_001205293.3(CACNA1E):c.4644C>A (p.Ile1548=)
|
rs2102718277
|
|
NM_001205293.3(CACNA1E):c.4647C>T (p.Thr1549=)
|
rs759613835
|
|
NM_001205293.3(CACNA1E):c.4660A>G (p.Ile1554Val)
|
|
|
NM_001205293.3(CACNA1E):c.4665A>G (p.Thr1555=)
|
|
|
NM_001205293.3(CACNA1E):c.4674C>T (p.Ile1558=)
|
|
|
NM_001205293.3(CACNA1E):c.4689+18T>C
|
|
|
NM_001205293.3(CACNA1E):c.4689+20C>A
|
|
|
NM_001205293.3(CACNA1E):c.4689+20C>T
|
rs369703172
|
|
NM_001205293.3(CACNA1E):c.4689+20del
|
rs34569867
|
|
NM_001205293.3(CACNA1E):c.4689+8G>A
|
|
|
NM_001205293.3(CACNA1E):c.4690-16C>A
|
|
|
NM_001205293.3(CACNA1E):c.4690-17T>C
|
rs2102722991
|
|
NM_001205293.3(CACNA1E):c.4690-3C>T
|
|
|
NM_001205293.3(CACNA1E):c.4692G>A (p.Leu1564=)
|
rs2102723150
|
|
NM_001205293.3(CACNA1E):c.4693G>A (p.Val1565Met)
|
rs1658759971
|
|
NM_001205293.3(CACNA1E):c.4699A>G (p.Thr1567Ala)
|
|
|
NM_001205293.3(CACNA1E):c.469C>T (p.Arg157Cys)
|
|
|
NM_001205293.3(CACNA1E):c.4703G>A (p.Ser1568Asn)
|
|
|
NM_001205293.3(CACNA1E):c.4704T>C (p.Ser1568=)
|
|
|
NM_001205293.3(CACNA1E):c.470G>T (p.Arg157Leu)
|
rs373195246
|
|
NM_001205293.3(CACNA1E):c.4710C>T (p.Phe1570=)
|
|
|
NM_001205293.3(CACNA1E):c.4714A>G (p.Met1572Val)
|
|
|
NM_001205293.3(CACNA1E):c.4714A>T (p.Met1572Leu)
|
|
|
NM_001205293.3(CACNA1E):c.4725G>A (p.Leu1575=)
|
|
|
NM_001205293.3(CACNA1E):c.4735C>T (p.Arg1579Ter)
|
|
|
NM_001205293.3(CACNA1E):c.4741G>T (p.Ala1581Ser)
|
|
|
NM_001205293.3(CACNA1E):c.4761G>A (p.Leu1587=)
|
rs2102723422
|
|
NM_001205293.3(CACNA1E):c.4763G>A (p.Arg1588His)
|
|
|
NM_001205293.3(CACNA1E):c.4769G>A (p.Gly1590Asp)
|
|
|
NM_001205293.3(CACNA1E):c.4790T>C (p.Leu1597Pro)
|
|
|
NM_001205293.3(CACNA1E):c.4797C>A (p.Thr1599=)
|
rs375801525
|
|
NM_001205293.3(CACNA1E):c.4803G>T (p.Val1601=)
|
|
|
NM_001205293.3(CACNA1E):c.4804C>T (p.Gln1602Ter)
|
|
|
NM_001205293.3(CACNA1E):c.4809C>T (p.Ser1603=)
|
|
|
NM_001205293.3(CACNA1E):c.4815+11C>T
|
|
|
NM_001205293.3(CACNA1E):c.4815+12del
|
|
|
NM_001205293.3(CACNA1E):c.4815+13A>G
|
rs2102723724
|
|
NM_001205293.3(CACNA1E):c.4815+14G>A
|
|
|
NM_001205293.3(CACNA1E):c.4815+2T>C
|
|
|
NM_001205293.3(CACNA1E):c.4815+9T>C
|
|
|
NM_001205293.3(CACNA1E):c.4816-15C>G
|
|
|
NM_001205293.3(CACNA1E):c.4816-19A>T
|
|
|
NM_001205293.3(CACNA1E):c.4818C>T (p.Ala1606=)
|
|
|
NM_001205293.3(CACNA1E):c.4821C>G (p.Leu1607=)
|
|
|
NM_001205293.3(CACNA1E):c.484G>A (p.Val162Ile)
|
|
|
NM_001205293.3(CACNA1E):c.4870A>G (p.Ile1624Val)
|
|
|
NM_001205293.3(CACNA1E):c.4881+19G>T
|
|
|
NM_001205293.3(CACNA1E):c.4881+20G>A
|
|
|
NM_001205293.3(CACNA1E):c.4881+20G>T
|
|
|
NM_001205293.3(CACNA1E):c.4881+6C>T
|
|
|
NM_001205293.3(CACNA1E):c.4882-15G>A
|
|
|
NM_001205293.3(CACNA1E):c.4882-6_4882-4del
|
rs560116244
|
|
NM_001205293.3(CACNA1E):c.4882-7C>A
|
rs1280171682
|
|
NM_001205293.3(CACNA1E):c.4882-8T>C
|
|
|
NM_001205293.3(CACNA1E):c.4884A>G (p.Val1628=)
|
rs781764017
|
|
NM_001205293.3(CACNA1E):c.489G>A (p.Met163Ile)
|
rs2102623980
|
|
NM_001205293.3(CACNA1E):c.4924C>T (p.Arg1642Trp)
|
|
|
NM_001205293.3(CACNA1E):c.4925G>A (p.Arg1642Gln)
|
|
|
NM_001205293.3(CACNA1E):c.4934A>T (p.Asn1645Ile)
|
rs2102766223
|
|
NM_001205293.3(CACNA1E):c.4940G>A (p.Arg1647Gln)
|
|
|
NM_001205293.3(CACNA1E):c.4942del (p.Ser1648fs)
|
rs1659494110
|
|
NM_001205293.3(CACNA1E):c.4954T>C (p.Ser1652Pro)
|
|
|
NM_001205293.3(CACNA1E):c.4964T>G (p.Leu1655Arg)
|
rs2102766403
|
|
NM_001205293.3(CACNA1E):c.4968C>T (p.Leu1656=)
|
rs2102766423
|
|
NM_001205293.3(CACNA1E):c.4973+12C>G
|
rs369376197
|
|
NM_001205293.3(CACNA1E):c.4973+12C>T
|
rs369376197
|
|
NM_001205293.3(CACNA1E):c.4973+13G>A
|
|
|
NM_001205293.3(CACNA1E):c.4973+17C>T
|
|
|
NM_001205293.3(CACNA1E):c.4973+19_4973+20del
|
|
|
NM_001205293.3(CACNA1E):c.4973+5C>G
|
|
|
NM_001205293.3(CACNA1E):c.4973+8G>A
|
|
|
NM_001205293.3(CACNA1E):c.4973+9A>C
|
|
|
NM_001205293.3(CACNA1E):c.4973+9A>T
|
|
|
NM_001205293.3(CACNA1E):c.4974-12T>C
|
|
|
NM_001205293.3(CACNA1E):c.4974-13C>G
|
rs376965760
|
|
NM_001205293.3(CACNA1E):c.4974-13C>T
|
|
|
NM_001205293.3(CACNA1E):c.4974-14TC[4]
|
rs759546688
|
|
NM_001205293.3(CACNA1E):c.4974-1G>A
|
|
|
NM_001205293.3(CACNA1E):c.4980C>T (p.Ala1660=)
|
|
|
NM_001205293.3(CACNA1E):c.4998G>A (p.Gln1666=)
|
|
|
NM_001205293.3(CACNA1E):c.499G>A (p.Val167Met)
|
rs1666159827
|
|
NM_001205293.3(CACNA1E):c.5019T>C (p.Leu1673=)
|
|
|
NM_001205293.3(CACNA1E):c.5022G>A (p.Gly1674=)
|
|
|
NM_001205293.3(CACNA1E):c.5027A>G (p.Lys1676Arg)
|
rs2102770892
|
|
NM_001205293.3(CACNA1E):c.5030G>C (p.Gly1677Ala)
|
|
|
NM_001205293.3(CACNA1E):c.5030G>T (p.Gly1677Val)
|
|
|
NM_001205293.3(CACNA1E):c.5031C>A (p.Gly1677=)
|
rs374198016
|
|
NM_001205293.3(CACNA1E):c.5031C>T (p.Gly1677=)
|
|
|
NM_001205293.3(CACNA1E):c.5037G>A (p.Glu1679=)
|
|
|
NM_001205293.3(CACNA1E):c.5045C>A (p.Thr1682Asn)
|
rs775398717
|
|
NM_001205293.3(CACNA1E):c.5045C>G (p.Thr1682Ser)
|
rs775398717
|
|
NM_001205293.3(CACNA1E):c.5046C>T (p.Thr1682=)
|
|
|
NM_001205293.3(CACNA1E):c.5050G>T (p.Ala1684Ser)
|
|
|
NM_001205293.3(CACNA1E):c.5055A>G (p.Pro1685=)
|
|
|
NM_001205293.3(CACNA1E):c.5058A>C (p.Ser1686=)
|
|
|
NM_001205293.3(CACNA1E):c.505C>T (p.Leu169Phe)
|
|
|
NM_001205293.3(CACNA1E):c.5061G>T (p.Gly1687=)
|
|
|
NM_001205293.3(CACNA1E):c.5067C>G (p.Asn1689Lys)
|
rs377382446
|
|
NM_001205293.3(CACNA1E):c.5069A>C (p.Glu1690Ala)
|
|
|
NM_001205293.3(CACNA1E):c.5072A>G (p.Asn1691Ser)
|
|
|
NM_001205293.3(CACNA1E):c.5077C>T (p.Arg1693Cys)
|
|
|
NM_001205293.3(CACNA1E):c.5085C>T (p.Gly1695=)
|
|
|
NM_001205293.3(CACNA1E):c.5089G>A (p.Asp1697Asn)
|
|
|
NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)
|
|
|
NM_001205293.3(CACNA1E):c.5110G>A (p.Val1704Ile)
|
rs2102771532
|
|
NM_001205293.3(CACNA1E):c.5119A>G (p.Ile1707Val)
|
|
|
NM_001205293.3(CACNA1E):c.512+13TC[3]
|
rs763463058
|
|
NM_001205293.3(CACNA1E):c.512+17T>C
|
|
|
NM_001205293.3(CACNA1E):c.512+19T>G
|
|
|
NM_001205293.3(CACNA1E):c.512+20C>A
|
rs1472986471
|
|
NM_001205293.3(CACNA1E):c.512+24_512+27del
|
rs746359150
|
|
NM_001205293.3(CACNA1E):c.5124C>A (p.Phe1708Leu)
|
|
|
NM_001205293.3(CACNA1E):c.5130C>T (p.Cys1710=)
|
|
|
NM_001205293.3(CACNA1E):c.5139+11T>C
|
|
|
NM_001205293.3(CACNA1E):c.5139+12T>G
|
|
|
NM_001205293.3(CACNA1E):c.5139+6C>A
|
|
|
NM_001205293.3(CACNA1E):c.5140-12del
|
rs752600141
|
|
NM_001205293.3(CACNA1E):c.5140-15C>T
|
|
|
NM_001205293.3(CACNA1E):c.5140-20T>C
|
|
|
NM_001205293.3(CACNA1E):c.5145C>T (p.Leu1715=)
|
|
|
NM_001205293.3(CACNA1E):c.5148C>T (p.Asn1716=)
|
|
|
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly)
|
rs2102795834
|
|
NM_001205293.3(CACNA1E):c.5161G>A (p.Val1721Ile)
|
|
|
NM_001205293.3(CACNA1E):c.5166C>A (p.Ile1722=)
|
|
|
NM_001205293.3(CACNA1E):c.5172C>T (p.Asp1724=)
|
|
|
NM_001205293.3(CACNA1E):c.5178T>G (p.Phe1726Leu)
|
rs2102795964
|
|
NM_001205293.3(CACNA1E):c.5184C>T (p.Tyr1728=)
|
|
|
NM_001205293.3(CACNA1E):c.5190T>C (p.Thr1730=)
|
|
|
NM_001205293.3(CACNA1E):c.5192G>A (p.Arg1731Gln)
|
|
|
NM_001205293.3(CACNA1E):c.519G>A (p.Leu173=)
|
|
|
NM_001205293.3(CACNA1E):c.5202C>T (p.Ser1734=)
|
|
|
NM_001205293.3(CACNA1E):c.5205C>T (p.Ile1735=)
|
rs547087786
|
|
NM_001205293.3(CACNA1E):c.521C>A (p.Ala174Asp)
|
|
|
NM_001205293.3(CACNA1E):c.5223G>A (p.Leu1741=)
|
|
|
NM_001205293.3(CACNA1E):c.5226C>T (p.Asp1742=)
|
rs565479460
|
|
NM_001205293.3(CACNA1E):c.5229G>A (p.Glu1743=)
|
|
|
NM_001205293.3(CACNA1E):c.5236C>T (p.Arg1746Cys)
|
rs777149894
|
|
NM_001205293.3(CACNA1E):c.5245G>A (p.Ala1749Thr)
|
|
|
NM_001205293.3(CACNA1E):c.5246C>A (p.Ala1749Glu)
|
|
|
NM_001205293.3(CACNA1E):c.5249A>C (p.Glu1750Ala)
|
|
|
NM_001205293.3(CACNA1E):c.5261C>A (p.Ala1754Glu)
|
|
|
NM_001205293.3(CACNA1E):c.5267+13C>T
|
|
|
NM_001205293.3(CACNA1E):c.5267+16G>A
|
|
|
NM_001205293.3(CACNA1E):c.5267+4C>T
|
|
|
NM_001205293.3(CACNA1E):c.5267+5G>A
|
rs2102796431
|
|
NM_001205293.3(CACNA1E):c.5267+8G>A
|
rs1460044545
|
|
NM_001205293.3(CACNA1E):c.5268-15A>G
|
rs1572881603
|
|
NM_001205293.3(CACNA1E):c.5268-1936G>A
|
|
|
NM_001205293.3(CACNA1E):c.5268-5A>G
|
|
|
NM_001205293.3(CACNA1E):c.5272C>T (p.Arg1758Cys)
|
|
|
NM_001205293.3(CACNA1E):c.5279A>G (p.His1760Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5284A>G (p.Thr1762Ala)
|
|
|
NM_001205293.3(CACNA1E):c.5293T>C (p.Tyr1765His)
|
|
|
NM_001205293.3(CACNA1E):c.5309_5310del (p.Leu1770fs)
|
rs1064795619
|
|
NM_001205293.3(CACNA1E):c.5312T>A (p.Met1771Lys)
|
|
|
NM_001205293.3(CACNA1E):c.5316A>G (p.Ser1772=)
|
|
|
NM_001205293.3(CACNA1E):c.5322G>T (p.Pro1774=)
|
|
|
NM_001205293.3(CACNA1E):c.5325A>G (p.Leu1775=)
|
|
|
NM_001205293.3(CACNA1E):c.532A>G (p.Thr178Ala)
|
|
|
NM_001205293.3(CACNA1E):c.5331C>T (p.Leu1777=)
|
|
|
NM_001205293.3(CACNA1E):c.5364+11C>T
|
|
|
NM_001205293.3(CACNA1E):c.5364+15C>T
|
|
|
NM_001205293.3(CACNA1E):c.5364+18T>G
|
|
|
NM_001205293.3(CACNA1E):c.5364+7C>A
|
|
|
NM_001205293.3(CACNA1E):c.5364+7C>T
|
|
|
NM_001205293.3(CACNA1E):c.5364+8A>G
|
|
|
NM_001205293.3(CACNA1E):c.5364+9C>T
|
|
|
NM_001205293.3(CACNA1E):c.5365-14T>A
|
|
|
NM_001205293.3(CACNA1E):c.5365-200ACA[5]
|
rs139017405
|
|
NM_001205293.3(CACNA1E):c.5365-20_5365-18del
|
rs1660618159
|
|
NM_001205293.3(CACNA1E):c.5365-20_5365-19del
|
|
|
NM_001205293.3(CACNA1E):c.5365-286A>T
|
rs77483262
|
|
NM_001205293.3(CACNA1E):c.5365-32del
|
rs112594566
|
|
NM_001205293.3(CACNA1E):c.5365-32dup
|
rs112594566
|
|
NM_001205293.3(CACNA1E):c.5365-6A>G
|
|
|
NM_001205293.3(CACNA1E):c.5370G>T (p.Leu1790Phe)
|
|
|
NM_001205293.3(CACNA1E):c.5388A>G (p.Pro1796=)
|
|
|
NM_001205293.3(CACNA1E):c.5394T>C (p.Ala1798=)
|
|
|
NM_001205293.3(CACNA1E):c.53A>G (p.Asp18Gly)
|
|
|
NM_001205293.3(CACNA1E):c.5404A>T (p.Thr1802Ser)
|
|
|
NM_001205293.3(CACNA1E):c.5405C>T (p.Thr1802Met)
|
|
|
NM_001205293.3(CACNA1E):c.5409C>T (p.Val1803=)
|
|
|
NM_001205293.3(CACNA1E):c.5410C>T (p.His1804Tyr)
|
rs369943758
|
|
NM_001205293.3(CACNA1E):c.5427T>A (p.Leu1809=)
|
|
|
NM_001205293.3(CACNA1E):c.5429T>C (p.Met1810Thr)
|
rs1660625119
|
|
NM_001205293.3(CACNA1E):c.542A>G (p.Asn181Ser)
|
|
|
NM_001205293.3(CACNA1E):c.5434C>G (p.Leu1812Val)
|
|
|
NM_001205293.3(CACNA1E):c.5440C>T (p.Arg1814Trp)
|
rs2102834570
|
|
NM_001205293.3(CACNA1E):c.5449C>T (p.Leu1817=)
|
|
|
NM_001205293.3(CACNA1E):c.5454C>T (p.Asp1818=)
|
|
|
NM_001205293.3(CACNA1E):c.5468A>G (p.Lys1823Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5470+11_5470+15del
|
rs3830692
|
|
NM_001205293.3(CACNA1E):c.5470+19G>A
|
|
|
NM_001205293.3(CACNA1E):c.5470G>A (p.Gly1824Ser)
|
rs1660627756
|
|
NM_001205293.3(CACNA1E):c.5471-12A>G
|
|
|
NM_001205293.3(CACNA1E):c.5471-16A>T
|
|
|
NM_001205293.3(CACNA1E):c.5471-4C>T
|
|
|
NM_001205293.3(CACNA1E):c.5474G>A (p.Gly1825Asp)
|
|
|
NM_001205293.3(CACNA1E):c.5474G>T (p.Gly1825Val)
|
rs2102841237
|
|
NM_001205293.3(CACNA1E):c.5476G>T (p.Ala1826Ser)
|
rs762378008
|
|
NM_001205293.3(CACNA1E):c.5493A>G (p.Leu1831=)
|
|
|
NM_001205293.3(CACNA1E):c.549C>A (p.His183Gln)
|
|
|
NM_001205293.3(CACNA1E):c.549C>T (p.His183=)
|
rs750697056
|
|
NM_001205293.3(CACNA1E):c.550G>A (p.Val184Met)
|
rs140645319
|
|
NM_001205293.3(CACNA1E):c.5514G>A (p.Glu1838=)
|
|
|
NM_001205293.3(CACNA1E):c.5522C>T (p.Ala1841Val)
|
|
|
NM_001205293.3(CACNA1E):c.5546A>G (p.Lys1849Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5578+12_5578+18del
|
|
|
NM_001205293.3(CACNA1E):c.5578+15C>T
|
|
|
NM_001205293.3(CACNA1E):c.5578+19G>C
|
|
|
NM_001205293.3(CACNA1E):c.5578+4del
|
|
|
NM_001205293.3(CACNA1E):c.5578+6G>T
|
rs1660716962
|
|
NM_001205293.3(CACNA1E):c.5578+9C>G
|
|
|
NM_001205293.3(CACNA1E):c.5578G>A (p.Ala1860Thr)
|
rs1057524055
|
|
NM_001205293.3(CACNA1E):c.5579-11del
|
rs2102844870
|
|
NM_001205293.3(CACNA1E):c.5579-16A>G
|
|
|
NM_001205293.3(CACNA1E):c.5579-17C>A
|
rs2102844846
|
|
NM_001205293.3(CACNA1E):c.5579-18C>A
|
|
|
NM_001205293.3(CACNA1E):c.5579-18C>T
|
|
|
NM_001205293.3(CACNA1E):c.5579-19G>A
|
|
|
NM_001205293.3(CACNA1E):c.5579-8G>A
|
rs2102844890
|
|
NM_001205293.3(CACNA1E):c.5579C>A (p.Ala1860Asp)
|
|
|
NM_001205293.3(CACNA1E):c.5598C>A (p.Gly1866=)
|
|
|
NM_001205293.3(CACNA1E):c.5602A>G (p.Ile1868Val)
|
|
|
NM_001205293.3(CACNA1E):c.5610A>G (p.Ala1870=)
|
|
|
NM_001205293.3(CACNA1E):c.5611G>A (p.Ala1871Thr)
|
|
|
NM_001205293.3(CACNA1E):c.5613A>G (p.Ala1871=)
|
|
|
NM_001205293.3(CACNA1E):c.5613A>T (p.Ala1871=)
|
|
|
NM_001205293.3(CACNA1E):c.5617A>G (p.Met1873Val)
|
|
|
NM_001205293.3(CACNA1E):c.5619G>A (p.Met1873Ile)
|
|
|
NM_001205293.3(CACNA1E):c.5621T>C (p.Ile1874Thr)
|
rs2102845112
|
|
NM_001205293.3(CACNA1E):c.5631_5635del (p.Tyr1877_Lys1879delinsTer)
|
|
|
NM_001205293.3(CACNA1E):c.5632T>G (p.Tyr1878Asp)
|
|
|
NM_001205293.3(CACNA1E):c.5634T>C (p.Tyr1878=)
|
|
|
NM_001205293.3(CACNA1E):c.5642G>A (p.Ser1881Asn)
|
rs994461072
|
|
NM_001205293.3(CACNA1E):c.5647G>A (p.Val1883Met)
|
rs557456591
|
|
NM_001205293.3(CACNA1E):c.5647G>C (p.Val1883Leu)
|
|
|
NM_001205293.3(CACNA1E):c.564C>A (p.Thr188=)
|
|
|
NM_001205293.3(CACNA1E):c.5654A>G (p.Lys1885Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5660G>A (p.Arg1887Lys)
|
rs2102845356
|
|
NM_001205293.3(CACNA1E):c.5663A>G (p.Gln1888Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5664G>A (p.Gln1888=)
|
|
|
NM_001205293.3(CACNA1E):c.5667G>T (p.Gln1889His)
|
rs891161966
|
|
NM_001205293.3(CACNA1E):c.5668C>T (p.Leu1890=)
|
|
|
NM_001205293.3(CACNA1E):c.5673G>A (p.Glu1891=)
|
|
|
NM_001205293.3(CACNA1E):c.5679+19dup
|
|
|
NM_001205293.3(CACNA1E):c.5679+5A>T
|
rs2102845482
|
|
NM_001205293.3(CACNA1E):c.5679+7G>A
|
|
|
NM_001205293.3(CACNA1E):c.5679+9C>G
|
|
|
NM_001205293.3(CACNA1E):c.5680-14C>T
|
|
|
NM_001205293.3(CACNA1E):c.5680-24_5680-15del
|
|
|
NM_001205293.3(CACNA1E):c.5680-46C>A
|
rs473200
|
|
NM_001205293.3(CACNA1E):c.5680-46C>T
|
rs473200
|
|
NM_001205293.3(CACNA1E):c.5680-5C>T
|
|
|
NM_001205293.3(CACNA1E):c.5680-6A>G
|
|
|
NM_001205293.3(CACNA1E):c.5686G>A (p.Ala1896Thr)
|
rs958002940
|
|
NM_001205293.3(CACNA1E):c.5687C>T (p.Ala1896Val)
|
rs1490799586
|
|
NM_001205293.3(CACNA1E):c.5689C>T (p.Pro1897Ser)
|
|
|
NM_001205293.3(CACNA1E):c.568C>T (p.Arg190Trp)
|
|
|
NM_001205293.3(CACNA1E):c.5693T>G (p.Met1898Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5694G>A (p.Met1898Ile)
|
|
|
NM_001205293.3(CACNA1E):c.56C>G (p.Ser19Trp)
|
rs758128368
|
|
NM_001205293.3(CACNA1E):c.5702G>A (p.Arg1901His)
|
|
|
NM_001205293.3(CACNA1E):c.5706G>A (p.Met1902Ile)
|
rs1339929154
|
|
NM_001205293.3(CACNA1E):c.5715A>C (p.Ser1905=)
|
|
|
NM_001205293.3(CACNA1E):c.5726A>G (p.Gln1909Arg)
|
rs1406883950
|
|
NM_001205293.3(CACNA1E):c.5727G>C (p.Gln1909His)
|
|
|
NM_001205293.3(CACNA1E):c.572_580del (p.Ala191_Arg193del)
|
|
|
NM_001205293.3(CACNA1E):c.5730G>A (p.Glu1910=)
|
|
|
NM_001205293.3(CACNA1E):c.5732T>C (p.Ile1911Thr)
|
rs2102847407
|
|
NM_001205293.3(CACNA1E):c.5735T>C (p.Ile1912Thr)
|
|
|
NM_001205293.3(CACNA1E):c.5738C>G (p.Ala1913Gly)
|
|
|
NM_001205293.3(CACNA1E):c.5739T>C (p.Ala1913=)
|
|
|
NM_001205293.3(CACNA1E):c.5747A>T (p.Lys1916Ile)
|
|
|
NM_001205293.3(CACNA1E):c.5750C>G (p.Ala1917Gly)
|
rs1395524417
|
|
NM_001205293.3(CACNA1E):c.5753T>A (p.Leu1918Gln)
|
rs2102847505
|
|
NM_001205293.3(CACNA1E):c.5754G>C (p.Leu1918=)
|
|
|
NM_001205293.3(CACNA1E):c.5760C>G (p.Tyr1920Ter)
|
|
|
NM_001205293.3(CACNA1E):c.5761C>G (p.Leu1921Val)
|
|
|
NM_001205293.3(CACNA1E):c.5762T>C (p.Leu1921Pro)
|
|
|
NM_001205293.3(CACNA1E):c.5762T>G (p.Leu1921Arg)
|
rs770750685
|
|
NM_001205293.3(CACNA1E):c.5764C>T (p.Gln1922Ter)
|
rs1558390377
|
|
NM_001205293.3(CACNA1E):c.5772C>G (p.Asp1924Glu)
|
|
|
NM_001205293.3(CACNA1E):c.577C>T (p.Arg193Cys)
|
|
|
NM_001205293.3(CACNA1E):c.5783G>A (p.Gly1928Asp)
|
|
|
NM_001205293.3(CACNA1E):c.5785C>T (p.Leu1929=)
|
|
|
NM_001205293.3(CACNA1E):c.5786+17C>T
|
|
|
NM_001205293.3(CACNA1E):c.5786+7A>G
|
|
|
NM_001205293.3(CACNA1E):c.5787-11T>C
|
|
|
NM_001205293.3(CACNA1E):c.5787-12A>G
|
|
|
NM_001205293.3(CACNA1E):c.5787-136dup
|
rs1553358120
|
|
NM_001205293.3(CACNA1E):c.5787-138_5787-137insTA
|
rs34600959
|
|
NM_001205293.3(CACNA1E):c.5787-138_5787-137insTTA
|
rs34600959
|
|
NM_001205293.3(CACNA1E):c.5787-138_5787-137insTTTA
|
rs34600959
|
|
NM_001205293.3(CACNA1E):c.5787-138del
|
rs33973972
|
|
NM_001205293.3(CACNA1E):c.5787-138dup
|
rs33973972
|
|
NM_001205293.3(CACNA1E):c.5791G>A (p.Gly1931Ser)
|
|
|
NM_001205293.3(CACNA1E):c.5795G>A (p.Arg1932Gln)
|
|
|
NM_001205293.3(CACNA1E):c.5802A>C (p.Gly1934=)
|
|
|
NM_001205293.3(CACNA1E):c.5803T>C (p.Tyr1935His)
|
|
|
NM_001205293.3(CACNA1E):c.5806C>A (p.Pro1936Thr)
|
|
|
NM_001205293.3(CACNA1E):c.5810C>G (p.Ser1937Trp)
|
|
|
NM_001205293.3(CACNA1E):c.5810C>T (p.Ser1937Leu)
|
|
|
NM_001205293.3(CACNA1E):c.5811G>A (p.Ser1937=)
|
|
|
NM_001205293.3(CACNA1E):c.5813T>G (p.Met1938Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=)
|
rs35611740
|
|
NM_001205293.3(CACNA1E):c.5820A>T (p.Pro1940=)
|
|
|
NM_001205293.3(CACNA1E):c.5823C>G (p.Leu1941=)
|
|
|
NM_001205293.3(CACNA1E):c.5824T>C (p.Ser1942Pro)
|
|
|
NM_001205293.3(CACNA1E):c.5826T>C (p.Ser1942=)
|
|
|
NM_001205293.3(CACNA1E):c.5828C>G (p.Pro1943Arg)
|
|
|
NM_001205293.3(CACNA1E):c.582C>A (p.Val194=)
|
|
|
NM_001205293.3(CACNA1E):c.5830C>T (p.Gln1944Ter)
|
|
|
NM_001205293.3(CACNA1E):c.5832G>A (p.Gln1944=)
|
|
|
NM_001205293.3(CACNA1E):c.5836A>G (p.Ile1946Val)
|
rs567484183
|
|
NM_001205293.3(CACNA1E):c.5837T>C (p.Ile1946Thr)
|
|
|
NM_001205293.3(CACNA1E):c.5841C>A (p.Phe1947Leu)
|
|
|
NM_001205293.3(CACNA1E):c.5861C>T (p.Pro1954Leu)
|
|
|
NM_001205293.3(CACNA1E):c.5862C>T (p.Pro1954=)
|
|
|
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp)
|
rs1651121815
|
|
NM_001205293.3(CACNA1E):c.5876A>G (p.Gln1959Arg)
|
|
|
NM_001205293.3(CACNA1E):c.5877G>T (p.Gln1959His)
|
|
|
NM_001205293.3(CACNA1E):c.587G>A (p.Arg196Gln)
|
|
|
NM_001205293.3(CACNA1E):c.5893T>G (p.Ser1965Ala)
|
|
|
NM_001205293.3(CACNA1E):c.5898+17T>C
|
|
|
NM_001205293.3(CACNA1E):c.5898+17T>G
|
rs377584745
|
|
NM_001205293.3(CACNA1E):c.5898+20G>A
|
rs1558396270
|
|
NM_001205293.3(CACNA1E):c.5898+259_5898+263dup
|
rs75022721
|
|
NM_001205293.3(CACNA1E):c.5898+6T>G
|
rs1661213734
|
|
NM_001205293.3(CACNA1E):c.5898G>C (p.Leu1966=)
|
|
|
NM_001205293.3(CACNA1E):c.591T>G (p.Pro197=)
|
rs2102968512
|
|
NM_001205293.3(CACNA1E):c.594G>A (p.Leu198=)
|
|
|
NM_001205293.3(CACNA1E):c.5961G>T (p.Ser1987=)
|
rs375614463
|
|
NM_001205293.3(CACNA1E):c.597G>A (p.Lys199=)
|
|
|
NM_001205293.3(CACNA1E):c.5990G>T (p.Arg1997Met)
|
rs544113218
|
|
NM_001205293.3(CACNA1E):c.600C>G (p.Leu200=)
|
rs532557819
|
|
NM_001205293.3(CACNA1E):c.600C>T (p.Leu200=)
|
rs532557819
|
|
NM_001205293.3(CACNA1E):c.6028-19T>C
|
|
|
NM_001205293.3(CACNA1E):c.6028-22_6028-19del
|
|
|
NM_001205293.3(CACNA1E):c.6028-36C>A
|
rs758155486
|
|
NM_001205293.3(CACNA1E):c.6028-44C>T
|
rs372366948
|
|
NM_001205293.3(CACNA1E):c.6028-8A>G
|
|
|
NM_001205293.3(CACNA1E):c.6028G>A (p.Val2010Met)
|
rs1553360130
|
|
NM_001205293.3(CACNA1E):c.6033G>A (p.Val2011=)
|
|
|
NM_001205293.3(CACNA1E):c.6040_6043dup (p.Ser2015delinsThrTer)
|
rs2102892468
|
|
NM_001205293.3(CACNA1E):c.6055C>T (p.Arg2019Cys)
|
|
|
NM_001205293.3(CACNA1E):c.6070A>G (p.Ile2024Val)
|
|
|
NM_001205293.3(CACNA1E):c.6073C>T (p.Arg2025Trp)
|
|
|
NM_001205293.3(CACNA1E):c.6074G>A (p.Arg2025Gln)
|
|
|
NM_001205293.3(CACNA1E):c.6078T>C (p.Asp2026=)
|
rs751416597
|
|
NM_001205293.3(CACNA1E):c.6081G>A (p.Lys2027=)
|
|
|
NM_001205293.3(CACNA1E):c.6082C>T (p.Arg2028Cys)
|
|
|
NM_001205293.3(CACNA1E):c.6095C>T (p.Ser2032Leu)
|
|
|
NM_001205293.3(CACNA1E):c.6099G>T (p.Trp2033Cys)
|
|
|
NM_001205293.3(CACNA1E):c.609G>A (p.Gly203=)
|
|
|
NM_001205293.3(CACNA1E):c.60C>A (p.Asp20Glu)
|
|
|
NM_001205293.3(CACNA1E):c.6100T>C (p.Leu2034=)
|
|
|
NM_001205293.3(CACNA1E):c.6101T>C (p.Leu2034Ser)
|
|
|
NM_001205293.3(CACNA1E):c.6108A>T (p.Glu2036Asp)
|
|
|
NM_001205293.3(CACNA1E):c.611T>C (p.Ile204Thr)
|
|
|
NM_001205293.3(CACNA1E):c.6140A>T (p.Tyr2047Phe)
|
|
|
NM_001205293.3(CACNA1E):c.6148C>T (p.Arg2050Cys)
|
|
|
NM_001205293.3(CACNA1E):c.6149G>A (p.Arg2050His)
|
|
|
NM_001205293.3(CACNA1E):c.6154C>T (p.Arg2052Trp)
|
|
|
NM_001205293.3(CACNA1E):c.615T>C (p.Pro205=)
|
|
|
NM_001205293.3(CACNA1E):c.6169T>C (p.Ser2057Pro)
|
rs2102893427
|
|
NM_001205293.3(CACNA1E):c.617-10T>G
|
|
|
NM_001205293.3(CACNA1E):c.617-14G>A
|
|
|
NM_001205293.3(CACNA1E):c.617-16_617-15del
|
|
|
NM_001205293.3(CACNA1E):c.617-18C>G
|
rs2102974209
|
|
NM_001205293.3(CACNA1E):c.617-3T>C
|
|
|
NM_001205293.3(CACNA1E):c.617-4C>G
|
|
|
NM_001205293.3(CACNA1E):c.617-7_617-4del
|
|
|
NM_001205293.3(CACNA1E):c.6176G>A (p.Arg2059Gln)
|
|
|
NM_001205293.3(CACNA1E):c.6184G>C (p.Ala2062Pro)
|
|
|
NM_001205293.3(CACNA1E):c.6187C>T (p.His2063Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.6190C>T (p.Arg2064Cys)
|
|
|
NM_001205293.3(CACNA1E):c.6208+19T>C
|
rs2102893805
|
|
NM_001205293.3(CACNA1E):c.6208+3G>A
|
|
|
NM_001205293.3(CACNA1E):c.6208+7_6208+8del
|
|
|
NM_001205293.3(CACNA1E):c.6208+7_6208+9del
|
|
|
NM_001205293.3(CACNA1E):c.6209-12C>T
|
|
|
NM_001205293.3(CACNA1E):c.6209-135G>T
|
rs75602639
|
|
NM_001205293.3(CACNA1E):c.6209-5C>T
|
|
|
NM_001205293.3(CACNA1E):c.6212A>G (p.His2071Arg)
|
|
|
NM_001205293.3(CACNA1E):c.6220G>A (p.Asp2074Asn)
|
|
|
NM_001205293.3(CACNA1E):c.6221A>C (p.Asp2074Ala)
|
|
|
NM_001205293.3(CACNA1E):c.6223A>G (p.Thr2075Ala)
|
|
|
NM_001205293.3(CACNA1E):c.6226C>T (p.His2076Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.6227A>T (p.His2076Leu)
|
|
|
NM_001205293.3(CACNA1E):c.6229C>T (p.Arg2077Cys)
|
rs370905391
|
|
NM_001205293.3(CACNA1E):c.6230G>A (p.Arg2077His)
|
rs759720068
|
|
NM_001205293.3(CACNA1E):c.6230G>T (p.Arg2077Leu)
|
|
|
NM_001205293.3(CACNA1E):c.6235G>A (p.Gly2079Arg)
|
|
|
NM_001205293.3(CACNA1E):c.6238G>C (p.Gly2080Arg)
|
|
|
NM_001205293.3(CACNA1E):c.6239G>A (p.Gly2080Asp)
|
rs752801592
|
|
NM_001205293.3(CACNA1E):c.6243G>T (p.Arg2081Ser)
|
rs759011987
|
|
NM_001205293.3(CACNA1E):c.6246G>A (p.Glu2082=)
|
|
|
NM_001205293.3(CACNA1E):c.624G>C (p.Gln208His)
|
|
|
NM_001205293.3(CACNA1E):c.6253C>T (p.Arg2085Ter)
|
|
|
NM_001205293.3(CACNA1E):c.6258A>G (p.Ser2086=)
|
|
|
NM_001205293.3(CACNA1E):c.6266G>A (p.Arg2089Gln)
|
|
|
NM_001205293.3(CACNA1E):c.6270G>A (p.Lys2090=)
|
|
|
NM_001205293.3(CACNA1E):c.6272A>G (p.His2091Arg)
|
rs1553361072
|
|
NM_001205293.3(CACNA1E):c.627T>A (p.Ile209=)
|
rs985328341
|
|
NM_001205293.3(CACNA1E):c.6282T>A (p.Ser2094=)
|
rs778437904
|
|
NM_001205293.3(CACNA1E):c.6289G>A (p.Val2097Ile)
|
|
|
NM_001205293.3(CACNA1E):c.6298T>G (p.Cys2100Gly)
|
|
|
NM_001205293.3(CACNA1E):c.6306A>G (p.Ser2102=)
|
|
|
NM_001205293.3(CACNA1E):c.630G>A (p.Val210=)
|
|
|
NM_001205293.3(CACNA1E):c.6313C>T (p.Arg2105Ter)
|
|
|
NM_001205293.3(CACNA1E):c.6315A>T (p.Arg2105=)
|
|
|
NM_001205293.3(CACNA1E):c.631T>C (p.Leu211=)
|
|
|
NM_001205293.3(CACNA1E):c.6331T>C (p.Trp2111Arg)
|
|
|
NM_001205293.3(CACNA1E):c.6336G>A (p.Glu2112=)
|
rs1661845960
|
|
NM_001205293.3(CACNA1E):c.6341C>T (p.Pro2114Leu)
|
rs759886074
|
|
NM_001205293.3(CACNA1E):c.6349C>T (p.Arg2117Cys)
|
|
|
NM_001205293.3(CACNA1E):c.6350G>T (p.Arg2117Leu)
|
rs376695821
|
|
NM_001205293.3(CACNA1E):c.6358A>G (p.Arg2120Gly)
|
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NM_001205293.3(CACNA1E):c.6358A>T (p.Arg2120Trp)
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NM_001205293.3(CACNA1E):c.6360G>A (p.Arg2120=)
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NM_001205293.3(CACNA1E):c.636G>A (p.Lys212=)
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NM_001205293.3(CACNA1E):c.6372G>A (p.Glu2124=)
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NM_001205293.3(CACNA1E):c.6378G>A (p.Arg2126=)
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NM_001205293.3(CACNA1E):c.6382C>A (p.Gln2128Lys)
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NM_001205293.3(CACNA1E):c.6386C>T (p.Thr2129Met)
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NM_001205293.3(CACNA1E):c.638C>G (p.Ser213Cys)
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NM_001205293.3(CACNA1E):c.6390C>T (p.Pro2130=)
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rs2102903446
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NM_001205293.3(CACNA1E):c.6394del (p.Arg2132fs)
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NM_001205293.3(CACNA1E):c.6398A>C (p.Gln2133Pro)
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NM_001205293.3(CACNA1E):c.6399+17A>C
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NM_001205293.3(CACNA1E):c.6399+6C>A
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rs368933098
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NM_001205293.3(CACNA1E):c.6399+6C>G
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NM_001205293.3(CACNA1E):c.6399+6C>T
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rs368933098
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NM_001205293.3(CACNA1E):c.6400-16C>G
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NM_001205293.3(CACNA1E):c.6400-16C>T
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NM_001205293.3(CACNA1E):c.6400-19T>C
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NM_001205293.3(CACNA1E):c.6400-20A>G
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rs1329854366
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NM_001205293.3(CACNA1E):c.6400-22C>T
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rs373653538
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NM_001205293.3(CACNA1E):c.6406G>A (p.Gly2136Ser)
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NM_001205293.3(CACNA1E):c.6407G>A (p.Gly2136Asp)
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NM_001205293.3(CACNA1E):c.6410C>A (p.Ser2137Tyr)
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NM_001205293.3(CACNA1E):c.6420G>T (p.Glu2140Asp)
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NM_001205293.3(CACNA1E):c.6428T>A (p.Ile2143Asn)
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NM_001205293.3(CACNA1E):c.6428T>C (p.Ile2143Thr)
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rs369522939
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NM_001205293.3(CACNA1E):c.6429C>T (p.Ile2143=)
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NM_001205293.3(CACNA1E):c.6431C>G (p.Pro2144Arg)
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NM_001205293.3(CACNA1E):c.6431C>T (p.Pro2144Leu)
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NM_001205293.3(CACNA1E):c.6433T>C (p.Ser2145Pro)
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NM_001205293.3(CACNA1E):c.6440C>G (p.Ser2147Cys)
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NM_001205293.3(CACNA1E):c.6452C>T (p.Thr2151Ile)
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NM_001205293.3(CACNA1E):c.6454C>T (p.Pro2152Ser)
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NM_001205293.3(CACNA1E):c.6455C>G (p.Pro2152Arg)
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rs2102910062
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NM_001205293.3(CACNA1E):c.6456A>G (p.Pro2152=)
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NM_001205293.3(CACNA1E):c.6456AAG[2] (p.Arg2154del)
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rs775896761
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NM_001205293.3(CACNA1E):c.6458G>A (p.Arg2153Lys)
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NM_001205293.3(CACNA1E):c.6462A>T (p.Arg2154Ser)
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NM_001205293.3(CACNA1E):c.6463A>C (p.Ser2155Arg)
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NM_001205293.3(CACNA1E):c.6465TCG[1] (p.Arg2157del)
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rs1302637573
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NM_001205293.3(CACNA1E):c.6466C>A (p.Arg2156Ser)
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NM_001205293.3(CACNA1E):c.6466C>T (p.Arg2156Cys)
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NM_001205293.3(CACNA1E):c.6469C>G (p.Arg2157Gly)
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NM_001205293.3(CACNA1E):c.6469C>T (p.Arg2157Trp)
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NM_001205293.3(CACNA1E):c.6469dup (p.Arg2157fs)
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NM_001205293.3(CACNA1E):c.6472C>T (p.Gln2158Ter)
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NM_001205293.3(CACNA1E):c.6486C>A (p.Val2162=)
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NM_001205293.3(CACNA1E):c.6486C>G (p.Val2162=)
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NM_001205293.3(CACNA1E):c.6489G>A (p.Pro2163=)
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rs377180948
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NM_001205293.3(CACNA1E):c.6496C>T (p.Pro2166Ser)
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NM_001205293.3(CACNA1E):c.6499C>A (p.Arg2167=)
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NM_001205293.3(CACNA1E):c.6499C>T (p.Arg2167Trp)
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rs763796830
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NM_001205293.3(CACNA1E):c.6500G>T (p.Arg2167Leu)
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NM_001205293.3(CACNA1E):c.6502C>A (p.Pro2168Thr)
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rs1251726954
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NM_001205293.3(CACNA1E):c.6502C>T (p.Pro2168Ser)
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NM_001205293.3(CACNA1E):c.6512C>G (p.Ser2171Cys)
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NM_001205293.3(CACNA1E):c.6514T>A (p.Tyr2172Asn)
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NM_001205293.3(CACNA1E):c.6516C>G (p.Tyr2172Ter)
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rs756099099
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NM_001205293.3(CACNA1E):c.6519C>T (p.Ser2173=)
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NM_001205293.3(CACNA1E):c.6521C>T (p.Ser2174Phe)
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rs2102910660
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NM_001205293.3(CACNA1E):c.6523dup (p.Leu2175fs)
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NM_001205293.3(CACNA1E):c.6527T>G (p.Ile2176Ser)
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NM_001205293.3(CACNA1E):c.6534C>T (p.His2178=)
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NM_001205293.3(CACNA1E):c.6535G>C (p.Ala2179Pro)
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NM_001205293.3(CACNA1E):c.6535G>T (p.Ala2179Ser)
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NM_001205293.3(CACNA1E):c.6537G>T (p.Ala2179=)
|
rs375338599
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NM_001205293.3(CACNA1E):c.6541A>T (p.Ser2181Cys)
|
rs2102910879
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NM_001205293.3(CACNA1E):c.6543C>A (p.Ser2181Arg)
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NM_001205293.3(CACNA1E):c.6546C>T (p.Ile2182=)
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NM_001205293.3(CACNA1E):c.6558T>G (p.Ala2186=)
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NM_001205293.3(CACNA1E):c.6559G>A (p.Asp2187Asn)
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NM_001205293.3(CACNA1E):c.6559G>C (p.Asp2187His)
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NM_001205293.3(CACNA1E):c.6568G>A (p.Glu2190Lys)
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NM_001205293.3(CACNA1E):c.6569AGG[1] (p.Glu2191del)
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NM_001205293.3(CACNA1E):c.6571G>A (p.Glu2191Lys)
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NM_001205293.3(CACNA1E):c.6571dup (p.Glu2191fs)
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rs2102911073
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NM_001205293.3(CACNA1E):c.6572A>G (p.Glu2191Gly)
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NM_001205293.3(CACNA1E):c.6574G>C (p.Gly2192Arg)
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rs2102911119
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NM_001205293.3(CACNA1E):c.6578C>T (p.Ser2193Phe)
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NM_001205293.3(CACNA1E):c.6579C>T (p.Ser2193=)
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NM_001205293.3(CACNA1E):c.6580C>T (p.Pro2194Ser)
|
rs1451686399
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NM_001205293.3(CACNA1E):c.6581C>T (p.Pro2194Leu)
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|
NM_001205293.3(CACNA1E):c.6582G>A (p.Pro2194=)
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NM_001205293.3(CACNA1E):c.6582G>T (p.Pro2194=)
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NM_001205293.3(CACNA1E):c.6588C>G (p.Thr2196=)
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NM_001205293.3(CACNA1E):c.6596C>T (p.Ala2199Val)
|
rs2102911282
|
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NM_001205293.3(CACNA1E):c.659C>A (p.Pro220His)
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NM_001205293.3(CACNA1E):c.6603G>A (p.Glu2201=)
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NM_001205293.3(CACNA1E):c.6603G>T (p.Glu2201Asp)
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NM_001205293.3(CACNA1E):c.6604A>G (p.Ser2202Gly)
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NM_001205293.3(CACNA1E):c.6605G>A (p.Ser2202Asn)
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rs1662014050
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NM_001205293.3(CACNA1E):c.6606C>T (p.Ser2202=)
|
rs2102911353
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NM_001205293.3(CACNA1E):c.6610A>G (p.Asn2204Asp)
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NM_001205293.3(CACNA1E):c.6612T>C (p.Asn2204=)
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NM_001205293.3(CACNA1E):c.6613_6627del (p.Ala2205_Glu2209del)
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NM_001205293.3(CACNA1E):c.661C>G (p.Leu221Val)
|
rs1553286278
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NM_001205293.3(CACNA1E):c.662T>C (p.Leu221Pro)
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NM_001205293.3(CACNA1E):c.6632C>T (p.Ser2211Phe)
|
rs2102911581
|
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NM_001205293.3(CACNA1E):c.6639T>A (p.Ser2213=)
|
rs2102911632
|
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NM_001205293.3(CACNA1E):c.6643C>A (p.His2215Asn)
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NM_001205293.3(CACNA1E):c.6643C>T (p.His2215Tyr)
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NM_001205293.3(CACNA1E):c.6645C>A (p.His2215Gln)
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NM_001205293.3(CACNA1E):c.6649C>T (p.Gln2217Ter)
|
rs766235230
|
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NM_001205293.3(CACNA1E):c.6660A>G (p.Gln2220=)
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|
NM_001205293.3(CACNA1E):c.6664G>A (p.Ala2222Thr)
|
rs369634310
|
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NM_001205293.3(CACNA1E):c.6664G>C (p.Ala2222Pro)
|
rs369634310
|
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NM_001205293.3(CACNA1E):c.6664G>T (p.Ala2222Ser)
|
rs369634310
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NM_001205293.3(CACNA1E):c.6668C>T (p.Ser2223Phe)
|
rs2102911916
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NM_001205293.3(CACNA1E):c.6670C>T (p.Pro2224Ser)
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NM_001205293.3(CACNA1E):c.6680A>G (p.Tyr2227Cys)
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NM_001205293.3(CACNA1E):c.6682A>C (p.Ile2228Leu)
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rs747103027
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NM_001205293.3(CACNA1E):c.6687C>T (p.Ser2229=)
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|
NM_001205293.3(CACNA1E):c.6688G>A (p.Glu2230Lys)
|
rs1005165258
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NM_001205293.3(CACNA1E):c.6688G>C (p.Glu2230Gln)
|
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|
NM_001205293.3(CACNA1E):c.6707A>G (p.His2236Arg)
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NM_001205293.3(CACNA1E):c.6708C>T (p.His2236=)
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NM_001205293.3(CACNA1E):c.6709G>A (p.Glu2237Lys)
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|
NM_001205293.3(CACNA1E):c.6713A>T (p.Asp2238Val)
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|
NM_001205293.3(CACNA1E):c.6717C>A (p.Ser2239=)
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NM_001205293.3(CACNA1E):c.6718C>A (p.His2240Asn)
|
rs2102912209
|
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NM_001205293.3(CACNA1E):c.6720C>A (p.His2240Gln)
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NM_001205293.3(CACNA1E):c.6720C>T (p.His2240=)
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NM_001205293.3(CACNA1E):c.6722C>T (p.Ala2241Val)
|
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|
NM_001205293.3(CACNA1E):c.6723C>T (p.Ala2241=)
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|
NM_001205293.3(CACNA1E):c.6727G>A (p.Asp2243Asn)
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|
NM_001205293.3(CACNA1E):c.6732T>C (p.Cys2244=)
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|
NM_001205293.3(CACNA1E):c.6734G>A (p.Gly2245Asp)
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|
NM_001205293.3(CACNA1E):c.6734G>T (p.Gly2245Val)
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|
NM_001205293.3(CACNA1E):c.6736GAG[2] (p.Glu2248del)
|
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|
NM_001205293.3(CACNA1E):c.6738G>A (p.Glu2246=)
|
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|
NM_001205293.3(CACNA1E):c.6739G>A (p.Glu2247Lys)
|
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|
NM_001205293.3(CACNA1E):c.6741G>A (p.Glu2247=)
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|
NM_001205293.3(CACNA1E):c.6747G>A (p.Thr2249=)
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|
NM_001205293.3(CACNA1E):c.674G>A (p.Gly225Asp)
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|
NM_001205293.3(CACNA1E):c.6757G>A (p.Glu2253Lys)
|
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|
NM_001205293.3(CACNA1E):c.6765C>T (p.Ala2255=)
|
|
|
NM_001205293.3(CACNA1E):c.6767T>C (p.Val2256Ala)
|
rs2102912609
|
|
NM_001205293.3(CACNA1E):c.6784C>T (p.Arg2262Cys)
|
|
|
NM_001205293.3(CACNA1E):c.6794C>T (p.Thr2265Ile)
|
|
|
NM_001205293.3(CACNA1E):c.6799G>A (p.Gly2267Ser)
|
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|
NM_001205293.3(CACNA1E):c.6803C>T (p.Ser2268Leu)
|
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|
NM_001205293.3(CACNA1E):c.6806C>A (p.Ala2269Asp)
|
|
|
NM_001205293.3(CACNA1E):c.6807C>T (p.Ala2269=)
|
|
|
NM_001205293.3(CACNA1E):c.6817C>T (p.Arg2273Trp)
|
|
|
NM_001205293.3(CACNA1E):c.6818G>A (p.Arg2273Gln)
|
rs866037100
|
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NM_001205293.3(CACNA1E):c.6820C>T (p.His2274Tyr)
|
rs2102912952
|
|
NM_001205293.3(CACNA1E):c.6827G>A (p.Trp2276Ter)
|
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|
NM_001205293.3(CACNA1E):c.6827G>C (p.Trp2276Ser)
|
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|
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro)
|
rs1553286282
|
|
NM_001205293.3(CACNA1E):c.6840C>A (p.Asn2280Lys)
|
|
|
NM_001205293.3(CACNA1E):c.6840C>T (p.Asn2280=)
|
rs536386497
|
|
NM_001205293.3(CACNA1E):c.6843G>T (p.Gly2281=)
|
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|
NM_001205293.3(CACNA1E):c.6850C>G (p.Arg2284Gly)
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|
NM_001205293.3(CACNA1E):c.6850C>T (p.Arg2284Trp)
|
rs770456006
|
|
NM_001205293.3(CACNA1E):c.6851G>A (p.Arg2284Gln)
|
|
|
NM_001205293.3(CACNA1E):c.6853C>T (p.Arg2285Trp)
|
|
|
NM_001205293.3(CACNA1E):c.6854G>A (p.Arg2285Gln)
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|
NM_001205293.3(CACNA1E):c.6862C>T (p.Arg2288Cys)
|
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|
NM_001205293.3(CACNA1E):c.6863G>A (p.Arg2288His)
|
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|
NM_001205293.3(CACNA1E):c.6867G>A (p.Gly2289=)
|
rs2102913352
|
|
NM_001205293.3(CACNA1E):c.6870G>C (p.Gly2290=)
|
|
|
NM_001205293.3(CACNA1E):c.6870G>T (p.Gly2290=)
|
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|
NM_001205293.3(CACNA1E):c.6875G>A (p.Gly2292Glu)
|
rs2102913409
|
|
NM_001205293.3(CACNA1E):c.6876G>T (p.Gly2292=)
|
|
|
NM_001205293.3(CACNA1E):c.6882C>A (p.Gly2294=)
|
|
|
NM_001205293.3(CACNA1E):c.6883A>C (p.Met2295Leu)
|
rs377536482
|
|
NM_001205293.3(CACNA1E):c.6883A>G (p.Met2295Val)
|
|
|
NM_001205293.3(CACNA1E):c.6883A>T (p.Met2295Leu)
|
rs377536482
|
|
NM_001205293.3(CACNA1E):c.6885G>A (p.Met2295Ile)
|
|
|
NM_001205293.3(CACNA1E):c.6888G>A (p.Met2296Ile)
|
|
|
NM_001205293.3(CACNA1E):c.6893G>A (p.Gly2298Glu)
|
|
|
NM_001205293.3(CACNA1E):c.6905A>G (p.Asn2302Ser)
|
rs1662051174
|
|
NM_001205293.3(CACNA1E):c.6906C>A (p.Asn2302Lys)
|
|
|
NM_001205293.3(CACNA1E):c.6913A>G (p.Ser2305Gly)
|
|
|
NM_001205293.3(CACNA1E):c.6914G>A (p.Ser2305Asn)
|
|
|
NM_001205293.3(CACNA1E):c.6920C>A (p.Thr2307Lys)
|
|
|
NM_001205293.3(CACNA1E):c.6921G>A (p.Thr2307=)
|
|
|
NM_001205293.3(CACNA1E):c.6922G>C (p.Glu2308Gln)
|
|
|
NM_001205293.3(CACNA1E):c.6930T>C (p.Asp2310=)
|
|
|
NM_001205293.3(CACNA1E):c.6930T>G (p.Asp2310Glu)
|
|
|
NM_001205293.3(CACNA1E):c.6934A>G (p.Lys2312Glu)
|
|
|
NM_001205293.3(CACNA1E):c.6937T>C (p.Cys2313Arg)
|
rs2102913828
|
|
NM_001205293.3(CACNA1E):c.6938G>A (p.Cys2313Tyr)
|
|
|
NM_001205293.3(CACNA1E):c.693C>T (p.Ala231=)
|
rs2102974463
|
|
NM_001205293.3(CACNA1E):c.695T>G (p.Ile232Ser)
|
|
|
NM_001205293.3(CACNA1E):c.704T>C (p.Phe235Ser)
|
|
|
NM_001205293.3(CACNA1E):c.712A>G (p.Ile238Val)
|
|
|
NM_001205293.3(CACNA1E):c.726C>A (p.Phe242Leu)
|
|
|
NM_001205293.3(CACNA1E):c.731G>C (p.Ser244Thr)
|
|
|
NM_001205293.3(CACNA1E):c.735C>A (p.Gly245=)
|
|
|
NM_001205293.3(CACNA1E):c.746G>A (p.Arg249Gln)
|
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|
NM_001205293.3(CACNA1E):c.758T>G (p.Met253Arg)
|
|
|
NM_001205293.3(CACNA1E):c.763A>C (p.Asn255His)
|
|
|
NM_001205293.3(CACNA1E):c.769+18T>A
|
|
|
NM_001205293.3(CACNA1E):c.769+19G>A
|
rs769497204
|
|
NM_001205293.3(CACNA1E):c.769+19G>C
|
|
|
NM_001205293.3(CACNA1E):c.769+1G>A
|
|
|
NM_001205293.3(CACNA1E):c.769+20T>C
|
rs1357153514
|
|
NM_001205293.3(CACNA1E):c.769+4G>T
|
rs1258496167
|
|
NM_001205293.3(CACNA1E):c.769+7T>C
|
|
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NM_001205293.3(CACNA1E):c.769+8C>T
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NM_001205293.3(CACNA1E):c.770-100G>C
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rs74130055
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NM_001205293.3(CACNA1E):c.770-14A>G
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NM_001205293.3(CACNA1E):c.770-18C>T
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NM_001205293.3(CACNA1E):c.770-19C>T
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NM_001205293.3(CACNA1E):c.770-22_770-15del
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rs2102980424
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NM_001205293.3(CACNA1E):c.770-5T>C
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NM_001205293.3(CACNA1E):c.782G>C (p.Gly261Ala)
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NM_001205293.3(CACNA1E):c.794dup (p.His266fs)
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NM_001205293.3(CACNA1E):c.798C>T (p.His266=)
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NM_001205293.3(CACNA1E):c.7C>T (p.Arg3Cys)
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NM_001205293.3(CACNA1E):c.816C>T (p.Gly272=)
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NM_001205293.3(CACNA1E):c.827G>A (p.Gly276Asp)
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rs2102980705
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NM_001205293.3(CACNA1E):c.830A>T (p.Tyr277Phe)
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rs893862692
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NM_001205293.3(CACNA1E):c.83C>T (p.Thr28Ile)
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NM_001205293.3(CACNA1E):c.848T>C (p.Ile283Thr)
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NM_001205293.3(CACNA1E):c.852C>A (p.Gly284=)
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NM_001205293.3(CACNA1E):c.857A>G (p.Asn286Ser)
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NM_001205293.3(CACNA1E):c.87C>T (p.Pro29=)
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NM_001205293.3(CACNA1E):c.87del (p.Val30fs)
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NM_001205293.3(CACNA1E):c.885C>T (p.Ile295=)
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NM_001205293.3(CACNA1E):c.88G>T (p.Val30Leu)
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NM_001205293.3(CACNA1E):c.902C>G (p.Thr301Ser)
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rs2102980905
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NM_001205293.3(CACNA1E):c.903T>G (p.Thr301=)
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rs1016463568
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NM_001205293.3(CACNA1E):c.906C>A (p.Val302=)
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NM_001205293.3(CACNA1E):c.909C>T (p.Phe303=)
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NM_001205293.3(CACNA1E):c.921C>T (p.Thr307=)
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rs2102980971
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NM_001205293.3(CACNA1E):c.925G>A (p.Glu309Lys)
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NM_001205293.3(CACNA1E):c.93G>A (p.Pro31=)
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NM_001205293.3(CACNA1E):c.951+17G>C
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NM_001205293.3(CACNA1E):c.951+18G>A
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NM_001205293.3(CACNA1E):c.951+19G>A
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NM_001205293.3(CACNA1E):c.951+3G>A
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NM_001205293.3(CACNA1E):c.951+8G>A
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NM_001205293.3(CACNA1E):c.952-1G>C
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rs2102062751
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NM_001205293.3(CACNA1E):c.952A>G (p.Thr318Ala)
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NM_001205293.3(CACNA1E):c.975C>G (p.Thr325=)
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NM_001205293.3(CACNA1E):c.98C>T (p.Ser33Leu)
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NM_001205293.3(CACNA1E):c.996C>A (p.Ile332=)
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