NM_000719.7(CACNA1C):c.1895+304A>G
|
rs1548732
|
0.98983
|
NM_000719.7(CACNA1C):c.2853+265G>C
|
rs215983
|
0.94615
|
NM_000719.7(CACNA1C):c.6117+206G>A
|
rs7956107
|
0.91563
|
NM_000719.7(CACNA1C):c.1508+317C>T
|
rs2370598
|
0.88631
|
NM_000719.7(CACNA1C):c.1508+316G>A
|
rs2370597
|
0.88628
|
NM_000719.7(CACNA1C):c.*284C>T
|
rs11062319
|
0.83650
|
NM_000719.7(CACNA1C):c.1670-52C>T
|
rs2370602
|
0.82155
|
NM_000719.7(CACNA1C):c.5681-77C>T
|
rs2270373
|
0.79539
|
NM_000719.7(CACNA1C):c.4727-231T>C
|
rs7136355
|
0.76028
|
NM_000719.7(CACNA1C):c.3945+83T>C
|
rs2239127
|
0.70394
|
NM_000719.7(CACNA1C):c.4828+164T>C
|
rs2302729
|
0.70353
|
NM_000719.7(CACNA1C):c.3945+96T>C
|
rs2239128
|
0.70345
|
NM_000719.7(CACNA1C):c.3945+109C>T
|
rs2239129
|
0.68534
|
NM_000719.7(CACNA1C):c.3946-98G>A
|
rs216045
|
0.66649
|
NM_000719.7(CACNA1C):c.1508+205A>G
|
rs2370596
|
0.65274
|
NM_000719.7(CACNA1C):c.4624-331A>G
|
rs6489375
|
0.64324
|
NM_000719.7(CACNA1C):c.4399-79C>A
|
rs2302728
|
0.61634
|
NM_000719.7(CACNA1C):c.1896-54G>A
|
rs11832738
|
0.60150
|
NM_000719.7(CACNA1C):c.4074+36G>A
|
rs1990322
|
0.56695
|
NM_000719.7(CACNA1C):c.4233-136G>A
|
rs7315556
|
0.55808
|
NM_000719.7(CACNA1C):c.1114-487A>G
|
rs1008832
|
0.50604
|
NM_000719.7(CACNA1C):c.617+286T>C
|
rs4765682
|
0.41807
|
NM_000719.7(CACNA1C):c.917-177G>A
|
rs1541452
|
0.38280
|
NM_000719.7(CACNA1C):c.3946-298G>A
|
rs216044
|
0.34322
|
NM_000719.7(CACNA1C):c.1114-679A>G
|
rs11608740
|
0.33415
|
NM_000719.7(CACNA1C):c.3913-270A>C
|
rs216036
|
0.28066
|
NM_000719.7(CACNA1C):c.617+17G>A
|
rs1544515
|
0.27035
|
NM_000719.7(CACNA1C):c.2793+187A>G
|
rs215981
|
0.26946
|
NM_000719.7(CACNA1C):c.1390+243T>C
|
rs2239100
|
0.26025
|
NM_000719.7(CACNA1C):c.3718-333T>C
|
rs216006
|
0.20988
|
NM_000719.7(CACNA1C):c.3718-81T>C
|
rs216007
|
0.20791
|
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=)
|
rs216008
|
0.20673
|
NM_000719.7(CACNA1C):c.3210-132C>T
|
rs123263
|
0.20429
|
NM_000719.7(CACNA1C):c.3357-172G>T
|
rs215995
|
0.19502
|
NM_000719.7(CACNA1C):c.3356+180C>T
|
rs215993
|
0.18727
|
NM_000719.7(CACNA1C):c.-360G>A
|
rs11062091
|
0.17877
|
NM_000719.7(CACNA1C):c.2853+457C>T
|
rs215984
|
0.17782
|
NM_000719.7(CACNA1C):c.5444+259A>G
|
rs3794288
|
0.16837
|
NM_000719.7(CACNA1C):c.1508+264T>A
|
rs4765959
|
0.16775
|
NM_000719.7(CACNA1C):c.5574-111T>G
|
rs11062315
|
0.16775
|
NM_000719.7(CACNA1C):c.5444+439_5444+440insA
|
rs35692616
|
0.16027
|
NM_000719.7(CACNA1C):c.5444+825A>G
|
rs12299577
|
0.15913
|
NM_000719.7(CACNA1C):c.5444+827C>G
|
rs12319450
|
0.15913
|
NM_000719.7(CACNA1C):c.4233-121A>G
|
rs45555233
|
0.12174
|
NM_000719.7(CACNA1C):c.3209+129T>C
|
rs215992
|
0.10242
|
NM_000719.7(CACNA1C):c.6118-79C>T
|
rs55830098
|
0.10145
|
NM_000719.7(CACNA1C):c.478-137C>T
|
rs7303824
|
0.09932
|
NM_000719.7(CACNA1C):c.917-49C>G
|
rs56412831
|
0.09242
|
NM_000719.7(CACNA1C):c.5574-174T>C
|
rs2909053
|
0.08815
|
NM_000719.7(CACNA1C):c.4233-129T>G
|
rs4765702
|
0.07532
|
NM_000719.7(CACNA1C):c.3157-90A>G
|
rs758560
|
0.07002
|
NM_000719.7(CACNA1C):c.3717+69C>T
|
rs55641425
|
0.06936
|
NM_000719.7(CACNA1C):c.4399-146C>A
|
rs2302727
|
0.06866
|
NM_000719.7(CACNA1C):c.1114-577G>A
|
rs72653436
|
0.06587
|
NM_000719.7(CACNA1C):c.1896-126G>A
|
rs77955861
|
0.06491
|
NM_000719.7(CACNA1C):c.5445-262A>G
|
rs35176240
|
0.05988
|
NM_000719.7(CACNA1C):c.4829-145C>G
|
rs12818148
|
0.05983
|
NM_000719.7(CACNA1C):c.5091+25C>T
|
rs2302731
|
0.05880
|
NM_000719.7(CACNA1C):c.2339+104C>G
|
rs74053838
|
0.05532
|
NM_000719.7(CACNA1C):c.4828+196G>T
|
rs113957250
|
0.05280
|
NM_000719.7(CACNA1C):c.4726+258T>G
|
rs57084902
|
0.05273
|
NM_000719.7(CACNA1C):c.2530+247T>C
|
rs1107389
|
0.05009
|
NM_000719.7(CACNA1C):c.2531-169G>A
|
rs58411337
|
0.04696
|
NM_000719.7(CACNA1C):c.2460+160T>G
|
rs74053839
|
0.04668
|
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=)
|
rs72552065
|
0.04512
|
NM_000719.7(CACNA1C):c.2854-337A>G
|
rs74053877
|
0.04266
|
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=)
|
rs41276710
|
0.04216
|
NM_000719.7(CACNA1C):c.1481+191G>A
|
rs74053813
|
0.04192
|
NM_000719.7(CACNA1C):c.1113+100C>G
|
rs116184062
|
0.03886
|
NM_000719.7(CACNA1C):c.2340-72G>A
|
rs11062281
|
0.03879
|
NM_000719.7(CACNA1C):c.477+336C>T
|
rs11832195
|
0.03679
|
NM_000719.7(CACNA1C):c.2104-311T>C
|
rs11831766
|
0.03668
|
NM_000719.7(CACNA1C):c.5574-176C>T
|
rs141720874
|
0.03610
|
NM_000719.7(CACNA1C):c.4957-207C>T
|
rs111800411
|
0.03372
|
NM_000719.7(CACNA1C):c.372-15G>A
|
rs55792866
|
0.02977
|
NM_000719.7(CACNA1C):c.2853+440G>A
|
rs113064994
|
0.02504
|
NM_000719.7(CACNA1C):c.1481+189C>T
|
rs74053812
|
0.02456
|
NM_000719.7(CACNA1C):c.3829-525A>G
|
rs216022
|
0.02342
|
NM_000719.7(CACNA1C):c.1390+188A>G
|
rs74053493
|
0.02322
|
NM_000719.7(CACNA1C):c.916+207G>A
|
rs61909400
|
0.02309
|
NM_000719.7(CACNA1C):c.5784+149G>A
|
rs113077320
|
0.02145
|
NM_000719.7(CACNA1C):c.4829-298A>G
|
rs73247435
|
0.02137
|
NM_000719.7(CACNA1C):c.758-190G>T
|
rs115760348
|
0.02135
|
NM_000719.7(CACNA1C):c.5091+189A>C
|
rs61593551
|
0.02134
|
NM_000719.7(CACNA1C):c.1218-210C>T
|
rs60005265
|
0.02105
|
NM_000719.7(CACNA1C):c.1113+186C>T
|
rs115098369
|
0.02063
|
NM_000719.7(CACNA1C):c.5445-170A>G
|
rs112910593
|
0.01972
|
NM_000719.7(CACNA1C):c.917-185A>G
|
rs7961759
|
0.01896
|
NM_000719.7(CACNA1C):c.1113+26A>C
|
rs149699136
|
0.01872
|
NM_000719.7(CACNA1C):c.3946-137A>C
|
rs170021
|
0.01819
|
NM_000719.7(CACNA1C):c.5680+15C>T
|
rs114036394
|
0.01782
|
NM_000719.7(CACNA1C):c.4398+249A>G
|
rs115860457
|
0.01739
|
NM_000719.7(CACNA1C):c.2530+66C>T
|
rs56291949
|
0.01731
|
NM_000719.7(CACNA1C):c.3049-92G>A
|
rs41276704
|
0.01731
|
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=)
|
rs56270948
|
0.01676
|
NM_000719.7(CACNA1C):c.757+305T>G
|
rs116415152
|
0.01653
|
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg)
|
rs111298509
|
0.01614
|
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=)
|
rs34419050
|
0.01584
|
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=)
|
rs113869350
|
0.01399
|
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=)
|
rs11062316
|
0.00963
|
NM_000719.7(CACNA1C):c.771C>T (p.Val257=)
|
rs112315742
|
0.00908
|
NM_000719.7(CACNA1C):c.371+17G>A
|
rs78645318
|
0.00797
|
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=)
|
rs113595214
|
0.00709
|
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=)
|
rs114139824
|
0.00585
|
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=)
|
rs115216455
|
0.00556
|
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=)
|
rs188224114
|
0.00525
|
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=)
|
rs139872789
|
0.00449
|
NM_000719.7(CACNA1C):c.5091+18G>A
|
rs143343491
|
0.00423
|
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met)
|
rs192749597
|
0.00353
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
|
rs112532048
|
0.00279
|
NM_000719.7(CACNA1C):c.4623+13G>A
|
rs111734850
|
0.00241
|
NM_000719.7(CACNA1C):c.-181G>A
|
rs112412740
|
0.00212
|
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=)
|
rs1051360
|
0.00209
|
NM_000719.7(CACNA1C):c.4829-7G>A
|
rs137904817
|
0.00194
|
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys)
|
rs185788586
|
0.00182
|
NM_000719.7(CACNA1C):c.1669+10G>A
|
rs576194052
|
0.00175
|
NM_000719.7(CACNA1C):c.4624-9C>T
|
rs377568567
|
0.00163
|
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln)
|
rs112414325
|
0.00140
|
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=)
|
rs201258230
|
0.00131
|
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=)
|
rs200800133
|
0.00120
|
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=)
|
rs139842134
|
0.00113
|
NM_000719.7(CACNA1C):c.-224T>C
|
rs531589437
|
0.00104
|
NM_000719.7(CACNA1C):c.4956+17G>A
|
rs200706151
|
0.00103
|
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met)
|
rs201777030
|
0.00102
|
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=)
|
rs56394008
|
0.00096
|
NM_000719.7(CACNA1C):c.3049-10C>T
|
rs186741807
|
0.00093
|
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=)
|
rs372702466
|
0.00088
|
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=)
|
rs111606207
|
0.00083
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)
|
rs113239186
|
0.00063
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=)
|
rs376124689
|
0.00058
|
NM_000719.7(CACNA1C):c.3156+17G>A
|
rs201709484
|
0.00052
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=)
|
rs369673473
|
0.00048
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
NM_000719.7(CACNA1C):c.966C>T (p.His322=)
|
rs112539787
|
0.00042
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=)
|
rs374050127
|
0.00029
|
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)
|
rs200847105
|
0.00027
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=)
|
rs200283756
|
0.00023
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00018
|
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=)
|
rs112002520
|
0.00014
|
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105
|
0.00012
|
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=)
|
rs762656408
|
0.00010
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
NM_000719.7(CACNA1C):c.2854-4G>A
|
rs113929946
|
0.00007
|
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=)
|
rs765091519
|
0.00007
|
NM_000719.7(CACNA1C):c.5091+3G>A
|
rs372915169
|
0.00007
|
NM_000719.7(CACNA1C):c.1669+6C>T
|
rs770007601
|
0.00006
|
NM_000719.7(CACNA1C):c.5445-591C>T
|
rs759718401
|
0.00006
|
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=)
|
rs757236915
|
0.00005
|
NM_000719.7(CACNA1C):c.1114-10G>A
|
rs371725005
|
0.00004
|
NM_000719.7(CACNA1C):c.3717+11G>A
|
rs763622598
|
0.00004
|
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=)
|
rs780871697
|
0.00004
|
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=)
|
rs371931644
|
0.00004
|
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=)
|
rs540934161
|
0.00004
|
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=)
|
rs752809686
|
0.00004
|
NM_000719.7(CACNA1C):c.3157-7C>T
|
rs759274364
|
0.00003
|
NM_000719.7(CACNA1C):c.3946-81C>A
|
rs747140717
|
0.00003
|
NM_000719.7(CACNA1C):c.3946-84G>A
|
rs369414971
|
0.00003
|
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)
|
rs533676935
|
0.00003
|
NM_000719.7(CACNA1C):c.1968T>A (p.Leu656=)
|
rs375950982
|
0.00002
|
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=)
|
rs776884902
|
0.00002
|
NM_000719.7(CACNA1C):c.372-9C>G
|
rs367763190
|
0.00002
|
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=)
|
rs376555924
|
0.00002
|
NM_000719.7(CACNA1C):c.108G>A (p.Ala36=)
|
rs781395450
|
0.00001
|
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=)
|
rs751902029
|
0.00001
|
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=)
|
rs750843602
|
0.00001
|
NM_000719.7(CACNA1C):c.1670-14C>T
|
rs1184132854
|
0.00001
|
NM_000719.7(CACNA1C):c.2430G>A (p.Thr810=)
|
rs775571017
|
0.00001
|
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=)
|
rs375813950
|
0.00001
|
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=)
|
rs753892795
|
0.00001
|
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=)
|
rs763666740
|
0.00001
|
GRCh37/hg19 12p13.33(chr12:2198588-2255327)x1
|
|
|
GRCh37/hg19 12p13.33(chr12:2198827-2216588)x1
|
|
|
GRCh37/hg19 12p13.33(chr12:2245636-2269588)x1
|
|
|
NM_000719.7(CACNA1C):c.*33dup
|
rs2153892870
|
|
NM_000719.7(CACNA1C):c.-77del
|
rs138130246
|
|
NM_000719.7(CACNA1C):c.1114-410C>A
|
rs1843666783
|
|
NM_000719.7(CACNA1C):c.1114-422T>C
|
rs780604576
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
NM_000719.7(CACNA1C):c.1390+236G>A
|
rs2239099
|
|
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=)
|
rs186720824
|
|
NM_000719.7(CACNA1C):c.2103+12T>C
|
rs2153223930
|
|
NM_000719.7(CACNA1C):c.2107C>T (p.Leu703=)
|
rs2153225440
|
|
NM_000719.7(CACNA1C):c.2224+78T>G
|
rs3751254
|
|
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=)
|
rs374468402
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.2853+212T>G
|
rs188733100
|
|
NM_000719.7(CACNA1C):c.2853+216A>T
|
rs2153374222
|
|
NM_000719.7(CACNA1C):c.372-3C>T
|
rs2154146507
|
|
NM_000719.7(CACNA1C):c.3829-683C>T
|
rs2153568051
|
|
NM_000719.7(CACNA1C):c.3829-86del
|
rs10713529
|
|
NM_000719.7(CACNA1C):c.3829-86dup
|
rs10713529
|
|
NM_000719.7(CACNA1C):c.3829-87_3829-86del
|
rs10713529
|
|
NM_000719.7(CACNA1C):c.3912+116del
|
rs59658684
|
|
NM_000719.7(CACNA1C):c.3912+116dup
|
rs59658684
|
|
NM_000719.7(CACNA1C):c.3912+189del
|
rs57723819
|
|
NM_000719.7(CACNA1C):c.3912+189dup
|
rs57723819
|
|
NM_000719.7(CACNA1C):c.3945+14T>C
|
rs2153638161
|
|
NM_000719.7(CACNA1C):c.3946-46C>G
|
rs112919597
|
|
NM_000719.7(CACNA1C):c.4074+33del
|
rs34428885
|
|
NM_000719.7(CACNA1C):c.4624-38C>G
|
rs58893912
|
|
NM_000719.7(CACNA1C):c.4726+313dup
|
rs11424036
|
|
NM_000719.7(CACNA1C):c.4726+73dup
|
rs3834937
|
|
NM_000719.7(CACNA1C):c.477+227TG[19]
|
rs112680750
|
|
NM_000719.7(CACNA1C):c.477+227TG[21]
|
rs112680750
|
|
NM_000719.7(CACNA1C):c.477+227TG[22]
|
rs112680750
|
|
NM_000719.7(CACNA1C):c.477+227TG[23]
|
rs112680750
|
|
NM_000719.7(CACNA1C):c.478-202del
|
rs34361820
|
|
NM_000719.7(CACNA1C):c.478-202dup
|
rs34361820
|
|
NM_000719.7(CACNA1C):c.4829-24CT[3]
|
rs746112363
|
|
NM_000719.7(CACNA1C):c.49+255G>A
|
rs11062092
|
|
NM_000719.7(CACNA1C):c.4956+147_4956+149dup
|
rs140729419
|
|
NM_000719.7(CACNA1C):c.4957-222G>C
|
rs2302730
|
|
NM_000719.7(CACNA1C):c.495C>A (p.Leu165=)
|
rs2154562858
|
|
NM_000719.7(CACNA1C):c.5091+14T>C
|
rs2153791607
|
|
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=)
|
rs369254461
|
|
NM_000719.7(CACNA1C):c.5445-256dup
|
rs34318156
|
|
NM_000719.7(CACNA1C):c.5445-586_5445-584delinsTGG
|
rs71441836
|
|
NM_000719.7(CACNA1C):c.5445-842GA[4]
|
rs148748662
|
|
NM_000719.7(CACNA1C):c.5573+202CA[6]
|
rs71951718
|
|
NM_000719.7(CACNA1C):c.5680+115dup
|
rs577376387
|
|
NM_000719.7(CACNA1C):c.5680+11C>T
|
rs66611965
|
|
NM_000719.7(CACNA1C):c.6118-14C>T
|
rs2153890795
|
|
NM_000719.7(CACNA1C):c.617+194G>A
|
rs4765933
|
|
NM_000719.7(CACNA1C):c.758-259A>C
|
rs887001
|
|
NM_001167623.2(CACNA1C):c.1125T>C (p.Ala375=)
|
rs776632764
|
|