NM_001167623.2(CACNA1C):c.3883A>G (p.Ile1295Val)
|
rs114851656
|
0.00169
|
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.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.1359C>T (p.Asp453=)
|
rs200330469
|
0.00063
|
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=)
|
rs375534041
|
0.00062
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=)
|
rs184684058
|
0.00045
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr)
|
rs374425919
|
0.00033
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)
|
rs202194703
|
0.00031
|
NM_000719.7(CACNA1C):c.2460+6G>A
|
rs369246066
|
0.00029
|
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)
|
rs200865354
|
0.00029
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=)
|
rs370576211
|
0.00025
|
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln)
|
rs373335068
|
0.00024
|
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)
|
rs375818733
|
0.00024
|
NM_000719.7(CACNA1C):c.3946-12G>A
|
rs41276706
|
0.00021
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
|
rs201392574
|
0.00018
|
NM_000719.7(CACNA1C):c.4140+4G>A
|
rs111442547
|
0.00018
|
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=)
|
rs541967618
|
0.00017
|
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)
|
rs199694744
|
0.00016
|
NM_000719.7(CACNA1C):c.5444+599C>A
|
rs551355331
|
0.00015
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_000719.7(CACNA1C):c.4075-4C>A
|
rs369044605
|
0.00014
|
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)
|
rs553500083
|
0.00013
|
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly)
|
rs374177870
|
0.00012
|
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys)
|
rs200231105
|
0.00012
|
NM_000719.7(CACNA1C):c.4727-9G>A
|
rs757966245
|
0.00011
|
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)
|
rs370432385
|
0.00011
|
NM_000719.7(CACNA1C):c.1753G>A (p.Val585Met)
|
rs763738559
|
0.00010
|
NM_000719.7(CACNA1C):c.4233-4C>T
|
rs769538757
|
0.00010
|
NM_000719.7(CACNA1C):c.4624-8G>A
|
rs529345041
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile)
|
rs770311259
|
0.00010
|
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)
|
rs377643814
|
0.00009
|
NM_000719.7(CACNA1C):c.1509-12T>G
|
rs200412525
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)
|
rs367638447
|
0.00009
|
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=)
|
rs563090568
|
0.00009
|
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly)
|
rs769297492
|
0.00009
|
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly)
|
rs549476254
|
0.00009
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser)
|
rs145549773
|
0.00007
|
NM_000719.7(CACNA1C):c.2854-4G>A
|
rs113929946
|
0.00007
|
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val)
|
rs750998195
|
0.00007
|
NM_000719.7(CACNA1C):c.5091+3G>A
|
rs372915169
|
0.00007
|
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)
|
rs542914369
|
0.00007
|
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)
|
rs190288386
|
0.00007
|
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)
|
rs374991642
|
0.00007
|
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)
|
rs199473392
|
0.00007
|
NM_000719.7(CACNA1C):c.1669+6C>T
|
rs770007601
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000719.7(CACNA1C):c.2461-3T>C
|
rs918755208
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp)
|
rs113157354
|
0.00006
|
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)
|
rs756492434
|
0.00006
|
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
|
rs745997744
|
0.00006
|
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys)
|
rs952990263
|
0.00006
|
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp)
|
rs200289321
|
0.00006
|
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met)
|
rs377737331
|
0.00006
|
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val)
|
rs551396698
|
0.00005
|
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val)
|
rs755028000
|
0.00005
|
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met)
|
rs572234918
|
0.00005
|
NM_000719.7(CACNA1C):c.3946-51C>T
|
rs202216172
|
0.00005
|
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln)
|
rs376706496
|
0.00005
|
NM_000719.7(CACNA1C):c.5477C>T (p.Ala1826Val)
|
rs750289082
|
0.00005
|
NM_000719.7(CACNA1C):c.5648C>T (p.Pro1883Leu)
|
rs578233776
|
0.00005
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)
|
rs369483452
|
0.00005
|
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)
|
rs376530064
|
0.00004
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
|
rs398123517
|
0.00004
|
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr)
|
rs371702432
|
0.00004
|
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg)
|
rs786205751
|
0.00004
|
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met)
|
rs772235214
|
0.00004
|
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala)
|
rs754495060
|
0.00004
|
NM_000719.7(CACNA1C):c.4727-61G>A
|
rs761831470
|
0.00004
|
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)
|
rs531161884
|
0.00004
|
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr)
|
rs767425352
|
0.00004
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
NM_000719.7(CACNA1C):c.5599C>T (p.Arg1867Trp)
|
rs369421219
|
0.00004
|
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn)
|
rs181502604
|
0.00004
|
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)
|
rs552478740
|
0.00004
|
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr)
|
rs765885227
|
0.00004
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
NM_000719.7(CACNA1C):c.1520G>A (p.Arg507His)
|
rs768830617
|
0.00003
|
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr)
|
rs777945001
|
0.00003
|
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile)
|
rs757507674
|
0.00003
|
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr)
|
rs398123519
|
0.00003
|
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)
|
rs773015884
|
0.00003
|
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr)
|
rs377165829
|
0.00003
|
NM_000719.7(CACNA1C):c.2961-5C>T
|
rs781703710
|
0.00003
|
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn)
|
rs771549676
|
0.00003
|
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met)
|
rs374549078
|
0.00003
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val)
|
rs756734279
|
0.00003
|
NM_000719.7(CACNA1C):c.3946-45C>G
|
rs201551454
|
0.00003
|
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr)
|
rs759934820
|
0.00003
|
NM_000719.7(CACNA1C):c.4727-10C>T
|
rs749903718
|
0.00003
|
NM_000719.7(CACNA1C):c.50-3C>T
|
rs780161540
|
0.00003
|
NM_000719.7(CACNA1C):c.5091+8G>A
|
rs768117202
|
0.00003
|
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser)
|
rs761966966
|
0.00003
|
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)
|
rs533676935
|
0.00003
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr)
|
rs786205769
|
0.00003
|
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln)
|
rs201918158
|
0.00003
|
NM_000719.7(CACNA1C):c.5455C>T (p.Arg1819Trp)
|
rs760812948
|
0.00003
|
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)
|
rs186015395
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000719.7(CACNA1C):c.5987C>T (p.Ala1996Val)
|
rs749674325
|
0.00003
|
NM_000719.7(CACNA1C):c.5993C>A (p.Thr1998Asn)
|
rs771424529
|
0.00003
|
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)
|
rs373503739
|
0.00003
|
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro)
|
rs758974396
|
0.00003
|
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser)
|
rs886049209
|
0.00003
|
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val)
|
rs745731628
|
0.00003
|
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg)
|
rs970305864
|
0.00003
|
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)
|
rs769703001
|
0.00003
|
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile)
|
rs1131653
|
0.00002
|
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn)
|
rs786205746
|
0.00002
|
NM_000719.7(CACNA1C):c.1558G>A (p.Ala520Thr)
|
rs755167125
|
0.00002
|
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu)
|
rs1157777158
|
0.00002
|
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)
|
rs545511851
|
0.00002
|
NM_000719.7(CACNA1C):c.2438G>A (p.Gly813Glu)
|
rs1568590011
|
0.00002
|
NM_000719.7(CACNA1C):c.2550G>C (p.Glu850Asp)
|
rs767204844
|
0.00002
|
NM_000719.7(CACNA1C):c.2664G>A (p.Arg888=)
|
rs754046062
|
0.00002
|
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr)
|
rs786205756
|
0.00002
|
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)
|
rs369884505
|
0.00002
|
NM_000719.7(CACNA1C):c.3156+6G>C
|
rs398123520
|
0.00002
|
NM_000719.7(CACNA1C):c.3367C>T (p.Arg1123Cys)
|
rs1057518445
|
0.00002
|
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu)
|
rs752247655
|
0.00002
|
NM_000719.7(CACNA1C):c.3748G>A (p.Ala1250Thr)
|
rs373930708
|
0.00002
|
NM_000719.7(CACNA1C):c.3752T>C (p.Met1251Thr)
|
rs1431157754
|
0.00002
|
NM_000719.7(CACNA1C):c.3912C>T (p.Asn1304=)
|
rs1221384071
|
0.00002
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
0.00002
|
NM_000719.7(CACNA1C):c.4141-605G>A
|
rs1054703481
|
0.00002
|
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr)
|
rs1064796583
|
0.00002
|
NM_000719.7(CACNA1C):c.4726+3A>G
|
rs982682310
|
0.00002
|
NM_000719.7(CACNA1C):c.4956+5G>C
|
rs758948589
|
0.00002
|
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr)
|
rs368700869
|
0.00002
|
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met)
|
rs199586997
|
0.00002
|
NM_000719.7(CACNA1C):c.5198C>T (p.Ala1733Val)
|
rs201049603
|
0.00002
|
NM_000719.7(CACNA1C):c.5215G>A (p.Asp1739Asn)
|
rs769917254
|
0.00002
|
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys)
|
rs775251529
|
0.00002
|
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser)
|
rs921032597
|
0.00002
|
NM_000719.7(CACNA1C):c.5404A>G (p.Ile1802Val)
|
rs370471203
|
0.00002
|
NM_000719.7(CACNA1C):c.5456G>A (p.Arg1819Gln)
|
rs764212214
|
0.00002
|
NM_000719.7(CACNA1C):c.5460G>C (p.Glu1820Asp)
|
rs776928313
|
0.00002
|
NM_000719.7(CACNA1C):c.5557C>G (p.Leu1853Val)
|
rs879206313
|
0.00002
|
NM_000719.7(CACNA1C):c.5576T>C (p.Leu1859Pro)
|
rs566778414
|
0.00002
|
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)
|
rs753954220
|
0.00002
|
NM_000719.7(CACNA1C):c.5693C>T (p.Ser1898Phe)
|
rs1312835338
|
0.00002
|
NM_000719.7(CACNA1C):c.580G>A (p.Gly194Ser)
|
rs753418562
|
0.00002
|
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala)
|
rs1298514198
|
0.00002
|
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)
|
rs532551057
|
0.00002
|
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)
|
rs527741368
|
0.00002
|
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys)
|
rs773211348
|
0.00002
|
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)
|
rs200941579
|
0.00002
|
NM_000719.7(CACNA1C):c.92A>G (p.Asn31Ser)
|
rs1367895262
|
0.00002
|
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met)
|
rs377345545
|
0.00002
|
NM_000719.7(CACNA1C):c.-233C>T
|
rs886049148
|
0.00001
|
NM_000719.7(CACNA1C):c.-3T>C
|
rs761790520
|
0.00001
|
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)
|
rs752842357
|
0.00001
|
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met)
|
rs1429990170
|
0.00001
|
NM_000719.7(CACNA1C):c.1113+4C>T
|
rs747800763
|
0.00001
|
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=)
|
rs780409021
|
0.00001
|
NM_000719.7(CACNA1C):c.122A>T (p.Glu41Val)
|
rs1451260431
|
0.00001
|
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala)
|
rs1057518456
|
0.00001
|
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys)
|
rs1238581042
|
0.00001
|
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu)
|
rs770830796
|
0.00001
|
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly)
|
rs761430418
|
0.00001
|
NM_000719.7(CACNA1C):c.1397T>C (p.Met466Thr)
|
rs769782016
|
0.00001
|
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys)
|
rs770480382
|
0.00001
|
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile)
|
rs765581751
|
0.00001
|
NM_000719.7(CACNA1C):c.1429G>A (p.Glu477Lys)
|
rs762162937
|
0.00001
|
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met)
|
rs752677964
|
0.00001
|
NM_000719.7(CACNA1C):c.1441G>A (p.Gly481Arg)
|
rs552477608
|
0.00001
|
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys)
|
rs763065970
|
0.00001
|
NM_000719.7(CACNA1C):c.1481C>T (p.Ala494Val)
|
rs762879256
|
0.00001
|
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys)
|
rs370634418
|
0.00001
|
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly)
|
rs975289385
|
0.00001
|
NM_000719.7(CACNA1C):c.1522C>T (p.Arg508Trp)
|
rs776805699
|
0.00001
|
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)
|
rs773528195
|
0.00001
|
NM_000719.7(CACNA1C):c.1703C>T (p.Thr568Met)
|
rs749561588
|
0.00001
|
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=)
|
rs886043677
|
0.00001
|
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys)
|
rs776145143
|
0.00001
|
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met)
|
rs768034509
|
0.00001
|
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile)
|
rs768270021
|
0.00001
|
NM_000719.7(CACNA1C):c.1946G>A (p.Arg649His)
|
rs786205777
|
0.00001
|
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr)
|
rs1429541061
|
0.00001
|
NM_000719.7(CACNA1C):c.2068G>A (p.Asp690Asn)
|
rs369638898
|
0.00001
|
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=)
|
rs794727117
|
0.00001
|
NM_000719.7(CACNA1C):c.209A>G (p.Asn70Ser)
|
rs1265762175
|
0.00001
|
NM_000719.7(CACNA1C):c.230G>T (p.Ser77Ile)
|
rs536377458
|
0.00001
|
NM_000719.7(CACNA1C):c.2314G>A (p.Glu772Lys)
|
rs1361366772
|
0.00001
|
NM_000719.7(CACNA1C):c.2339+6C>T
|
rs1030265969
|
0.00001
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu)
|
rs771393283
|
0.00001
|
NM_000719.7(CACNA1C):c.2390G>C (p.Gly797Ala)
|
rs1200916501
|
0.00001
|
NM_000719.7(CACNA1C):c.2395T>A (p.Ser799Thr)
|
rs749753740
|
0.00001
|
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln)
|
rs779009338
|
0.00001
|
NM_000719.7(CACNA1C):c.2452G>A (p.Ala818Thr)
|
rs765111782
|
0.00001
|
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp)
|
rs886039214
|
0.00001
|
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser)
|
rs1042919299
|
0.00001
|
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)
|
rs774002530
|
0.00001
|
NM_000719.7(CACNA1C):c.2545G>A (p.Glu849Lys)
|
rs370446470
|
0.00001
|
NM_000719.7(CACNA1C):c.2563G>A (p.Val855Ile)
|
rs543555345
|
0.00001
|
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)
|
rs1391136601
|
0.00001
|
NM_000719.7(CACNA1C):c.2572C>T (p.Arg858Cys)
|
rs1409860214
|
0.00001
|
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln)
|
rs730880056
|
0.00001
|
NM_000719.7(CACNA1C):c.257A>G (p.Tyr86Cys)
|
rs768230910
|
0.00001
|
NM_000719.7(CACNA1C):c.2606A>G (p.Glu869Gly)
|
rs755043734
|
0.00001
|
NM_000719.7(CACNA1C):c.275A>C (p.Gln92Pro)
|
rs766650940
|
0.00001
|
NM_000719.7(CACNA1C):c.2792A>G (p.His931Arg)
|
rs1170410162
|
0.00001
|
NM_000719.7(CACNA1C):c.2837T>C (p.Ile946Thr)
|
rs747728381
|
0.00001
|
NM_000719.7(CACNA1C):c.287C>T (p.Thr96Met)
|
rs1177984976
|
0.00001
|
NM_000719.7(CACNA1C):c.2975A>G (p.Asn992Ser)
|
rs1555878870
|
0.00001
|
NM_000719.7(CACNA1C):c.299C>T (p.Pro100Leu)
|
rs1398341239
|
0.00001
|
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)
|
rs761378545
|
0.00001
|
NM_000719.7(CACNA1C):c.3048G>A (p.Lys1016=)
|
rs777948170
|
0.00001
|
NM_000719.7(CACNA1C):c.313C>T (p.Leu105Phe)
|
rs778550818
|
0.00001
|
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg)
|
rs1305965146
|
0.00001
|
NM_000719.7(CACNA1C):c.3210-3C>T
|
rs750874261
|
0.00001
|
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val)
|
rs786205779
|
0.00001
|
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg)
|
rs781440831
|
0.00001
|
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=)
|
rs757290350
|
0.00001
|
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile)
|
rs766023530
|
0.00001
|
NM_000719.7(CACNA1C):c.3357-3C>T
|
rs757159281
|
0.00001
|
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn)
|
rs776318939
|
0.00001
|
NM_000719.7(CACNA1C):c.3416G>A (p.Arg1139His)
|
rs1373685560
|
0.00001
|
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu)
|
rs890686445
|
0.00001
|
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln)
|
rs368861681
|
0.00001
|
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu)
|
rs1048241141
|
0.00001
|
NM_000719.7(CACNA1C):c.3599G>A (p.Arg1200Gln)
|
rs369686855
|
0.00001
|
NM_000719.7(CACNA1C):c.363C>T (p.Val121=)
|
rs886042281
|
0.00001
|
NM_000719.7(CACNA1C):c.3691C>T (p.Leu1231Phe)
|
rs766971426
|
0.00001
|
NM_000719.7(CACNA1C):c.3717+4A>G
|
rs1184709095
|
0.00001
|
NM_000719.7(CACNA1C):c.3718-10C>A
|
rs2078011532
|
0.00001
|
NM_000719.7(CACNA1C):c.3718-3C>T
|
rs1267424726
|
0.00001
|
NM_000719.7(CACNA1C):c.3764A>G (p.Asn1255Ser)
|
rs2078031779
|
0.00001
|
NM_000719.7(CACNA1C):c.3790G>A (p.Val1264Met)
|
rs760543068
|
0.00001
|
NM_000719.7(CACNA1C):c.37G>A (p.Glu13Lys)
|
rs754656999
|
0.00001
|
NM_000719.7(CACNA1C):c.3828+6C>T
|
rs1060503449
|
0.00001
|
NM_000719.7(CACNA1C):c.3874G>T (p.Val1292Leu)
|
rs777138966
|
0.00001
|
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)
|
rs749588699
|
0.00001
|
NM_000719.7(CACNA1C):c.4040G>A (p.Arg1347Gln)
|
rs777058699
|
0.00001
|
NM_000719.7(CACNA1C):c.4074+6C>T
|
rs762974366
|
0.00001
|
NM_000719.7(CACNA1C):c.410A>G (p.Asn137Ser)
|
rs1242329478
|
0.00001
|
NM_000719.7(CACNA1C):c.4117A>G (p.Ile1373Val)
|
rs1272308907
|
0.00001
|
NM_000719.7(CACNA1C):c.4141-4C>T
|
rs745757052
|
0.00001
|
NM_000719.7(CACNA1C):c.4232+4G>A
|
rs550612732
|
0.00001
|
NM_000719.7(CACNA1C):c.4309C>T (p.Pro1437Ser)
|
rs398123522
|
0.00001
|
NM_000719.7(CACNA1C):c.4369A>G (p.Ile1457Val)
|
rs781315664
|
0.00001
|
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val)
|
rs200206894
|
0.00001
|
NM_000719.7(CACNA1C):c.4558C>G (p.Leu1520Val)
|
rs1032623545
|
0.00001
|
NM_000719.7(CACNA1C):c.4577C>T (p.Pro1526Leu)
|
rs2096135811
|
0.00001
|
NM_000719.7(CACNA1C):c.4757G>A (p.Arg1586Gln)
|
rs375656252
|
0.00001
|
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr)
|
rs1356292633
|
0.00001
|
NM_000719.7(CACNA1C):c.4819C>T (p.Pro1607Ser)
|
rs745938574
|
0.00001
|
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln)
|
rs777210376
|
0.00001
|
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile)
|
rs757629968
|
0.00001
|
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met)
|
rs1243482248
|
0.00001
|
NM_000719.7(CACNA1C):c.4901G>A (p.Arg1634His)
|
rs747957522
|
0.00001
|
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser)
|
rs786205764
|
0.00001
|
NM_000719.7(CACNA1C):c.4943C>T (p.Ala1648Val)
|
rs767199033
|
0.00001
|
NM_000719.7(CACNA1C):c.4946T>C (p.Leu1649Pro)
|
rs762182784
|
0.00001
|
NM_000719.7(CACNA1C):c.4997G>A (p.Arg1666Gln)
|
rs2096898935
|
0.00001
|
NM_000719.7(CACNA1C):c.4999C>T (p.Arg1667Trp)
|
rs917884780
|
0.00001
|
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)
|
rs773930851
|
0.00001
|
NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr)
|
rs746554838
|
0.00001
|
NM_000719.7(CACNA1C):c.5047A>G (p.Met1683Val)
|
rs1337057545
|
0.00001
|
NM_000719.7(CACNA1C):c.5110G>A (p.Gly1704Ser)
|
rs758268349
|
0.00001
|
NM_000719.7(CACNA1C):c.5114A>G (p.Asn1705Ser)
|
rs1569219272
|
0.00001
|
NM_000719.7(CACNA1C):c.5126A>G (p.Tyr1709Cys)
|
rs201980843
|
0.00001
|
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn)
|
rs747708938
|
0.00001
|
NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser)
|
rs554737427
|
0.00001
|
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val)
|
rs751493277
|
0.00001
|
NM_000719.7(CACNA1C):c.5188A>G (p.Ile1730Val)
|
rs758654112
|
0.00001
|
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=)
|
rs769124319
|
0.00001
|
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu)
|
rs375571032
|
0.00001
|
NM_000719.7(CACNA1C):c.5255C>T (p.Thr1752Ile)
|
rs752694570
|
0.00001
|
NM_000719.7(CACNA1C):c.5276C>T (p.Ser1759Leu)
|
rs756883184
|
0.00001
|
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His)
|
rs189719120
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His)
|
rs756829999
|
0.00001
|
NM_000719.7(CACNA1C):c.5363T>C (p.Val1788Ala)
|
rs1291945037
|
0.00001
|
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe)
|
rs1216229121
|
0.00001
|
NM_000719.7(CACNA1C):c.5419G>A (p.Val1807Met)
|
rs1474889407
|
0.00001
|
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser)
|
rs780210232
|
0.00001
|
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly)
|
rs1350126839
|
0.00001
|
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)
|
rs375846068
|
0.00001
|
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln)
|
rs535350857
|
0.00001
|
NM_000719.7(CACNA1C):c.5632G>A (p.Asp1878Asn)
|
rs767395651
|
0.00001
|
NM_000719.7(CACNA1C):c.5657G>C (p.Gly1886Ala)
|
rs748198629
|
0.00001
|
NM_000719.7(CACNA1C):c.5666G>A (p.Arg1889His)
|
rs574292274
|
0.00001
|
NM_000719.7(CACNA1C):c.5680+6T>C
|
rs1175926900
|
0.00001
|
NM_000719.7(CACNA1C):c.5714A>G (p.Lys1905Arg)
|
rs375147582
|
0.00001
|
NM_000719.7(CACNA1C):c.574C>T (p.Arg192Cys)
|
rs756042537
|
0.00001
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00001
|
NM_000719.7(CACNA1C):c.5808C>G (p.Ser1936Arg)
|
rs748679771
|
0.00001
|
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr)
|
rs200666365
|
0.00001
|
NM_000719.7(CACNA1C):c.5845C>T (p.Pro1949Ser)
|
rs770192725
|
0.00001
|
NM_000719.7(CACNA1C):c.5894C>T (p.Pro1965Leu)
|
rs958489483
|
0.00001
|
NM_000719.7(CACNA1C):c.5900A>G (p.Gln1967Arg)
|
rs1178438128
|
0.00001
|
NM_000719.7(CACNA1C):c.5905G>A (p.Val1969Ile)
|
rs748408098
|
0.00001
|
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile)
|
rs786205741
|
0.00001
|
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys)
|
rs765320988
|
0.00001
|
NM_000719.7(CACNA1C):c.5939G>A (p.Ser1980Asn)
|
rs749945590
|
0.00001
|
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg)
|
rs886038918
|
0.00001
|
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr)
|
rs750411964
|
0.00001
|
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)
|
rs786205742
|
0.00001
|
NM_000719.7(CACNA1C):c.6052G>A (p.Val2018Met)
|
rs1251544688
|
0.00001
|
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala)
|
rs773185026
|
0.00001
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser)
|
rs1464980383
|
0.00001
|
NM_000719.7(CACNA1C):c.609G>A (p.Val203=)
|
rs1417477759
|
0.00001
|
NM_000719.7(CACNA1C):c.6100A>G (p.Ser2034Gly)
|
rs1454941343
|
0.00001
|
NM_000719.7(CACNA1C):c.6119T>G (p.Val2040Gly)
|
rs1288222488
|
0.00001
|
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn)
|
rs957119379
|
0.00001
|
NM_000719.7(CACNA1C):c.6193G>A (p.Asp2065Asn)
|
rs1060503451
|
0.00001
|
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val)
|
rs1216146146
|
0.00001
|
NM_000719.7(CACNA1C):c.6212T>C (p.Ile2071Thr)
|
rs756403683
|
0.00001
|
NM_000719.7(CACNA1C):c.6235G>A (p.Asp2079Asn)
|
rs759579854
|
0.00001
|
NM_000719.7(CACNA1C):c.6253G>A (p.Gly2085Ser)
|
rs2097780609
|
0.00001
|
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His)
|
rs2097781569
|
0.00001
|
NM_000719.7(CACNA1C):c.6328G>T (p.Gly2110Cys)
|
rs778550803
|
0.00001
|
NM_000719.7(CACNA1C):c.6331G>A (p.Glu2111Lys)
|
rs1237228580
|
0.00001
|
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala)
|
rs972053240
|
0.00001
|
NM_000719.7(CACNA1C):c.662C>G (p.Ala221Gly)
|
rs2099443661
|
0.00001
|
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)
|
rs750459136
|
0.00001
|
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)
|
rs373687005
|
0.00001
|
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu)
|
rs538921079
|
0.00001
|
NM_000719.7(CACNA1C):c.914C>G (p.Ala305Gly)
|
rs948804634
|
0.00001
|
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp)
|
rs531598856
|
0.00001
|
NM_000719.7(CACNA1C):c.941C>T (p.Ser314Phe)
|
rs907730518
|
0.00001
|
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro)
|
rs745856938
|
0.00001
|
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)
|
rs535608443
|
0.00001
|
NM_001167623.2(CACNA1C):c.3871G>A (p.Val1291Ile)
|
rs786205760
|
0.00001
|
NM_001167623.2(CACNA1C):c.3912+1G>A
|
rs786205761
|
0.00001
|
GRCh37/hg19 12p13.33(chr12:2162777-2800066)x1
|
|
|
GRCh37/hg19 12p13.33(chr12:2218209-2554428)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2315926-2674054)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2387098-2740808)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2564298-2674054)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2791716-2791844)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2794031-2844076)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2794331-2851075)x1
|
|
|
GRCh37/hg19 12p13.33(chr12:2796406-2844076)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2796406-2851026)x1
|
|
|
NC_000012.11:g.(?_2162719)_(2229606_?)dup
|
|
|
NC_000012.11:g.(?_2162719)_(2666153_?)dup
|
|
|
NC_000012.11:g.(?_2162729)_(2229616_?)del
|
|
|
NC_000012.11:g.(?_2162729)_(2800365_?)del
|
|
|
NC_000012.11:g.(?_2162729)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2224370)_(2224731_?)dup
|
|
|
NC_000012.11:g.(?_2224380)_(2800375_?)dup
|
|
|
NC_000012.11:g.(?_2558122)_(2566892_?)dup
|
|
|
NC_000012.11:g.(?_2558122)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2558132)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2659099)_(2695080_?)dup
|
|
|
NC_000012.11:g.(?_2690736)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2757621)_(2800385_?)dup
|
|
|
NC_000012.11:g.(?_2794882)_(2795455_?)dup
|
|
|
NC_000012.11:g.(?_2794882)_(2800365_?)del
|
|
|
NC_000012.11:g.(?_2794882)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2794882)_(2800385_?)dup
|
|
|
NC_000012.11:g.(?_2795312)_(2800365_?)dup
|
|
|
NC_000012.11:g.(?_2797593)_(2800385_?)dup
|
|
|
NC_000012.11:g.(?_2800046)_(2800365_?)dup
|
|
|
NC_000012.12:g.(?_2448975)_(2691199_?)dup
|
|
|
NC_000012.12:g.(?_2685726)_(2691209_?)dup
|
|
|
NC_000012.12:g.(?_2686156)_(2691209_?)del
|
|
|
NC_000012.12:g.(?_2690890)_(2691209_?)dup
|
|
|
NM_000719.7(CACNA1C):c.*1652GAATT[1]
|
rs886049224
|
|
NM_000719.7(CACNA1C):c.-2C>T
|
|
|
NM_000719.7(CACNA1C):c.1000C>T (p.Pro334Ser)
|
|
|
NM_000719.7(CACNA1C):c.1010A>T (p.Asp337Val)
|
|
|
NM_000719.7(CACNA1C):c.101C>A (p.Ala34Glu)
|
rs551396698
|
|
NM_000719.7(CACNA1C):c.1024G>A (p.Gly342Ser)
|
rs1597985542
|
|
NM_000719.7(CACNA1C):c.1031C>T (p.Thr344Ile)
|
rs200935321
|
|
NM_000719.7(CACNA1C):c.1052T>A (p.Phe351Tyr)
|
rs1555672376
|
|
NM_000719.7(CACNA1C):c.1057A>G (p.Met353Val)
|
rs2154571844
|
|
NM_000719.7(CACNA1C):c.1064C>T (p.Thr355Met)
|
rs538694667
|
|
NM_000719.7(CACNA1C):c.1084A>G (p.Met362Val)
|
|
|
NM_000719.7(CACNA1C):c.1099G>A (p.Asp367Asn)
|
rs1010239242
|
|
NM_000719.7(CACNA1C):c.1102G>A (p.Val368Met)
|
|
|
NM_000719.7(CACNA1C):c.1113+3A>G
|
|
|
NM_000719.7(CACNA1C):c.1113+4C>G
|
|
|
NM_000719.7(CACNA1C):c.1113+6T>G
|
|
|
NM_000719.7(CACNA1C):c.1118A>G (p.Asn373Ser)
|
|
|
NM_000719.7(CACNA1C):c.112C>A (p.Leu38Met)
|
|
|
NM_000719.7(CACNA1C):c.1130G>C (p.Gly377Ala)
|
rs1555689622
|
|
NM_000719.7(CACNA1C):c.1138T>G (p.Trp380Gly)
|
rs2154577561
|
|
NM_000719.7(CACNA1C):c.1141C>A (p.Pro381Thr)
|
rs786205775
|
|
NM_000719.7(CACNA1C):c.1141C>T (p.Pro381Ser)
|
rs786205775
|
|
NM_000719.7(CACNA1C):c.1151A>C (p.Tyr384Ser)
|
|
|
NM_000719.7(CACNA1C):c.1151A>G (p.Tyr384Cys)
|
|
|
NM_000719.7(CACNA1C):c.1171A>C (p.Ile391Leu)
|
rs1051356
|
|
NM_000719.7(CACNA1C):c.1175G>T (p.Gly392Val)
|
rs760243734
|
|
NM_000719.7(CACNA1C):c.1185dup (p.Val396fs)
|
|
|
NM_000719.7(CACNA1C):c.118C>A (p.Pro40Thr)
|
|
|
NM_000719.7(CACNA1C):c.118C>T (p.Pro40Ser)
|
|
|
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg)
|
rs80315385
|
|
NM_000719.7(CACNA1C):c.1217+5G>A
|
rs2099768300
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys)
|
|
|
NM_000719.7(CACNA1C):c.1229A>G (p.Lys410Arg)
|
rs2154579664
|
|
NM_000719.7(CACNA1C):c.1237G>A (p.Glu413Lys)
|
|
|
NM_000719.7(CACNA1C):c.1244C>T (p.Ala415Val)
|
rs2099787855
|
|
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp)
|
|
|
NM_000719.7(CACNA1C):c.1253G>C (p.Arg418Pro)
|
rs398123516
|
|
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg)
|
rs786205776
|
|
NM_000719.7(CACNA1C):c.125A>G (p.His42Arg)
|
rs2154136915
|
|
NM_000719.7(CACNA1C):c.1274G>A (p.Arg425Gln)
|
rs1430516663
|
|
NM_000719.7(CACNA1C):c.1276G>A (p.Glu426Lys)
|
|
|
NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu)
|
|
|
NM_000719.7(CACNA1C):c.1282C>G (p.Gln428Glu)
|
|
|
NM_000719.7(CACNA1C):c.1291G>C (p.Glu431Gln)
|
|
|
NM_000719.7(CACNA1C):c.12G>C (p.Glu4Asp)
|
|
|
NM_000719.7(CACNA1C):c.1307G>C (p.Gly436Ala)
|
|
|
NM_000719.7(CACNA1C):c.1333G>C (p.Glu445Gln)
|
rs1238581042
|
|
NM_000719.7(CACNA1C):c.1335A>C (p.Glu445Asp)
|
|
|
NM_000719.7(CACNA1C):c.1337A>G (p.Asp446Gly)
|
rs1060503452
|
|
NM_000719.7(CACNA1C):c.1342G>T (p.Asp448Tyr)
|
rs786205746
|
|
NM_000719.7(CACNA1C):c.1342_1343delinsCT (p.Asp448Leu)
|
|
|
NM_000719.7(CACNA1C):c.1343A>C (p.Asp448Ala)
|
rs2099787973
|
|
NM_000719.7(CACNA1C):c.1345_1371dup (p.Pro449_Asp457dup)
|
rs2154579678
|
|
NM_000719.7(CACNA1C):c.1348G>C (p.Glu450Gln)
|
rs369680588
|
|
NM_000719.7(CACNA1C):c.1365C>T (p.Gly455=)
|
|
|
NM_000719.7(CACNA1C):c.1366A>C (p.Met456Leu)
|
rs746887726
|
|
NM_000719.7(CACNA1C):c.1367T>G (p.Met456Arg)
|
rs2099788010
|
|
NM_000719.7(CACNA1C):c.1372G>A (p.Glu458Lys)
|
|
|
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del)
|
|
|
NM_000719.7(CACNA1C):c.1381C>A (p.Pro461Thr)
|
rs776242172
|
|
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala)
|
rs776242172
|
|
NM_000719.7(CACNA1C):c.1381C>T (p.Pro461Ser)
|
|
|
NM_000719.7(CACNA1C):c.1384C>T (p.Arg462Ter)
|
rs761430418
|
|
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln)
|
rs794727961
|
|
NM_000719.7(CACNA1C):c.1390+4A>G
|
|
|
NM_000719.7(CACNA1C):c.1390A>G (p.Met464Val)
|
rs764849976
|
|
NM_000719.7(CACNA1C):c.1391-3C>G
|
|
|
NM_000719.7(CACNA1C):c.1394G>A (p.Ser465Asn)
|
|
|
NM_000719.7(CACNA1C):c.1396A>G (p.Met466Val)
|
rs1599718305
|
|
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His)
|
rs886049150
|
|
NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg)
|
|
|
NM_000719.7(CACNA1C):c.1410G>T (p.Glu470Asp)
|
rs1555774889
|
|
NM_000719.7(CACNA1C):c.1412C>A (p.Thr471Asn)
|
rs1599718556
|
|
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe)
|
rs765581751
|
|
NM_000719.7(CACNA1C):c.142G>C (p.Ala48Pro)
|
|
|
NM_000719.7(CACNA1C):c.142dup (p.Ala48fs)
|
rs2083404928
|
|
NM_000719.7(CACNA1C):c.1456G>A (p.Gly486Arg)
|
|
|
NM_000719.7(CACNA1C):c.1460A>C (p.Glu487Ala)
|
|
|
NM_000719.7(CACNA1C):c.1481+1G>A
|
rs778456186
|
|
NM_000719.7(CACNA1C):c.1481+621C>T
|
rs200329394
|
|
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg)
|
|
|
NM_000719.7(CACNA1C):c.148C>A (p.Leu50Met)
|
|
|
NM_000719.7(CACNA1C):c.1496A>T (p.Lys499Met)
|
|
|
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)
|
rs1555075958
|
|
NM_000719.7(CACNA1C):c.1501A>G (p.Lys501Glu)
|
rs1555785224
|
|
NM_000719.7(CACNA1C):c.1509-1G>A
|
rs2154593325
|
|
NM_000719.7(CACNA1C):c.1519C>T (p.Arg507Cys)
|
|
|
NM_000719.7(CACNA1C):c.1523G>A (p.Arg508Gln)
|
rs762091177
|
|
NM_000719.7(CACNA1C):c.1528A>G (p.Asn510Asp)
|
|
|
NM_000719.7(CACNA1C):c.152C>T (p.Ser51Leu)
|
|
|
NM_000719.7(CACNA1C):c.1531C>T (p.Arg511Trp)
|
|
|
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln)
|
rs786205747
|
|
NM_000719.7(CACNA1C):c.1540A>G (p.Arg514Gly)
|
rs1555797578
|
|
NM_000719.7(CACNA1C):c.1549T>A (p.Cys517Ser)
|
|
|
NM_000719.7(CACNA1C):c.154T>C (p.Trp52Arg)
|
rs786205765
|
|
NM_000719.7(CACNA1C):c.1559C>T (p.Ala520Val)
|
|
|
NM_000719.7(CACNA1C):c.1561G>A (p.Val521Ile)
|
|
|
NM_000719.7(CACNA1C):c.1570A>G (p.Asn524Asp)
|
|
|
NM_000719.7(CACNA1C):c.1571A>G (p.Asn524Ser)
|
|
|
NM_000719.7(CACNA1C):c.1582T>G (p.Trp528Gly)
|
rs755846732
|
|
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs)
|
rs786205782
|
|
NM_000719.7(CACNA1C):c.1604T>C (p.Phe535Ser)
|
|
|
NM_000719.7(CACNA1C):c.1615C>T (p.Leu539Phe)
|
|
|
NM_000719.7(CACNA1C):c.1618A>G (p.Thr540Ala)
|
|
|
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val)
|
rs775019372
|
|
NM_000719.7(CACNA1C):c.1624G>T (p.Ala542Ser)
|
rs2154593339
|
|
NM_000719.7(CACNA1C):c.1630G>A (p.Glu544Lys)
|
|
|
NM_000719.7(CACNA1C):c.163G>A (p.Ala55Thr)
|
rs1238098699
|
|
NM_000719.7(CACNA1C):c.1640A>C (p.Asn547Thr)
|
|
|
NM_000719.7(CACNA1C):c.1640A>G (p.Asn547Ser)
|
|
|
NM_000719.7(CACNA1C):c.164C>A (p.Ala55Asp)
|
rs2154137004
|
|
NM_000719.7(CACNA1C):c.1663G>T (p.Val555Phe)
|
|
|
NM_000719.7(CACNA1C):c.1668A>C (p.Gln556His)
|
|
|
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala)
|
rs2154593415
|
|
NM_000719.7(CACNA1C):c.168C>G (p.Ile56Met)
|
rs763760402
|
|
NM_000719.7(CACNA1C):c.1693G>T (p.Ala565Ser)
|
|
|
NM_000719.7(CACNA1C):c.1694C>T (p.Ala565Val)
|
|
|
NM_000719.7(CACNA1C):c.1697T>C (p.Leu566Pro)
|
|
|
NM_000719.7(CACNA1C):c.1706C>T (p.Ala569Val)
|
|
|
NM_000719.7(CACNA1C):c.1709A>G (p.Glu570Gly)
|
|
|
NM_000719.7(CACNA1C):c.1722G>T (p.Lys574Asn)
|
rs1568469515
|
|
NM_000719.7(CACNA1C):c.1724T>C (p.Met575Thr)
|
|
|
NM_000719.7(CACNA1C):c.1730G>A (p.Ser577Asn)
|
|
|
NM_000719.7(CACNA1C):c.1753G>T (p.Val585Leu)
|
rs763738559
|
|
NM_000719.7(CACNA1C):c.1754T>C (p.Val585Ala)
|
|
|
NM_000719.7(CACNA1C):c.175G>T (p.Ala59Ser)
|
rs786205766
|
|
NM_000719.7(CACNA1C):c.1769G>A (p.Arg590His)
|
rs761586376
|
|
NM_000719.7(CACNA1C):c.179G>C (p.Arg60Pro)
|
rs1460962311
|
|
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg)
|
|
|
NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met)
|
|
|
NM_000719.7(CACNA1C):c.182A>C (p.Gln61Pro)
|
rs2083416747
|
|
NM_000719.7(CACNA1C):c.182A>G (p.Gln61Arg)
|
|
|
NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro)
|
rs1057518994
|
|
NM_000719.7(CACNA1C):c.1841T>G (p.Leu614Arg)
|
rs1057518994
|
|
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met)
|
rs775536781
|
|
NM_000719.7(CACNA1C):c.1865T>G (p.Val622Gly)
|
|
|
NM_000719.7(CACNA1C):c.187A>G (p.Lys63Glu)
|
rs1555192866
|
|
NM_000719.7(CACNA1C):c.1888A>G (p.Ile630Val)
|
rs1555800433
|
|
NM_000719.7(CACNA1C):c.1892C>T (p.Thr631Met)
|
|
|
NM_000719.7(CACNA1C):c.1895+3A>T
|
|
|
NM_000719.7(CACNA1C):c.1896-3C>T
|
|
|
NM_000719.7(CACNA1C):c.1896G>A (p.Arg632=)
|
rs2060521243
|
|
NM_000719.7(CACNA1C):c.1917C>A (p.Asn639Lys)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1931T>G (p.Leu644Trp)
|
rs786205749
|
|
NM_000719.7(CACNA1C):c.1937A>C (p.Asn646Thr)
|
rs1600964368
|
|
NM_000719.7(CACNA1C):c.1951A>G (p.Ile651Val)
|
rs1555825315
|
|
NM_000719.7(CACNA1C):c.1952T>A (p.Ile651Asn)
|
rs1060503443
|
|
NM_000719.7(CACNA1C):c.1987A>G (p.Ile663Val)
|
|
|
NM_000719.7(CACNA1C):c.1990A>G (p.Ile664Val)
|
rs1555825533
|
|
NM_000719.7(CACNA1C):c.1A>C (p.Met1Leu)
|
rs931964122
|
|
NM_000719.7(CACNA1C):c.1A>G (p.Met1Val)
|
rs931964122
|
|
NM_000719.7(CACNA1C):c.200G>A (p.Ser67Asn)
|
rs2083420296
|
|
NM_000719.7(CACNA1C):c.2023G>A (p.Gly675Arg)
|
|
|
NM_000719.7(CACNA1C):c.2024G>A (p.Gly675Glu)
|
rs2153223856
|
|
NM_000719.7(CACNA1C):c.2024G>C (p.Gly675Ala)
|
|
|
NM_000719.7(CACNA1C):c.2035T>C (p.Phe679Leu)
|
|
|
NM_000719.7(CACNA1C):c.203C>T (p.Ala68Val)
|
|
|
NM_000719.7(CACNA1C):c.2047C>G (p.Gln683Glu)
|
|
|
NM_000719.7(CACNA1C):c.2069A>G (p.Asp690Gly)
|
rs2153223882
|
|
NM_000719.7(CACNA1C):c.206G>A (p.Gly69Asp)
|
|
|
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile)
|
rs2060548431
|
|
NM_000719.7(CACNA1C):c.2090T>A (p.Leu697His)
|
|
|
NM_000719.7(CACNA1C):c.2103+5G>A
|
rs2060554007
|
|
NM_000719.7(CACNA1C):c.2104-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2113G>A (p.Gly705Arg)
|
rs786205750
|
|
NM_000719.7(CACNA1C):c.211G>A (p.Ala71Thr)
|
rs1064796234
|
|
NM_000719.7(CACNA1C):c.2124G>A (p.Trp708Ter)
|
rs1555828602
|
|
NM_000719.7(CACNA1C):c.215C>T (p.Thr72Ile)
|
|
|
NM_000719.7(CACNA1C):c.217A>G (p.Ile73Val)
|
rs752877107
|
|
NM_000719.7(CACNA1C):c.2181G>T (p.Met727Ile)
|
|
|
NM_000719.7(CACNA1C):c.2225-11G>T
|
|
|
NM_000719.7(CACNA1C):c.2225-5_2225-2del
|
|
|
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro)
|
rs398123518
|
|
NM_000719.7(CACNA1C):c.2248G>A (p.Ala750Thr)
|
|
|
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val)
|
rs794727167
|
|
NM_000719.7(CACNA1C):c.2254G>A (p.Ala752Thr)
|
|
|
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro)
|
rs560163331
|
|
NM_000719.7(CACNA1C):c.226G>C (p.Val76Leu)
|
|
|
NM_000719.7(CACNA1C):c.2273A>T (p.Asp758Val)
|
|
|
NM_000719.7(CACNA1C):c.2276C>A (p.Ala759Asp)
|
|
|
NM_000719.7(CACNA1C):c.2278G>A (p.Glu760Lys)
|
rs1555832882
|
|
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe)
|
rs2061710859
|
|
NM_000719.7(CACNA1C):c.2286_2288del (p.Thr763del)
|
rs1060503445
|
|
NM_000719.7(CACNA1C):c.2296C>A (p.Gln766Lys)
|
|
|
NM_000719.7(CACNA1C):c.2302G>A (p.Glu768Lys)
|
rs2153229485
|
|
NM_000719.7(CACNA1C):c.2304G>C (p.Glu768Asp)
|
|
|
NM_000719.7(CACNA1C):c.2305_2322del (p.Glu769_Glu774del)
|
|
|
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del)
|
rs786205770
|
|
NM_000719.7(CACNA1C):c.2312AGGAGA[3] (p.Glu774_Arg775insLysGlu)
|
|
|
NM_000719.7(CACNA1C):c.2316G>T (p.Glu772Asp)
|
rs1219744448
|
|
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del)
|
rs786205771
|
|
NM_000719.7(CACNA1C):c.2322G>C (p.Glu774Asp)
|
|
|
NM_000719.7(CACNA1C):c.2328G>T (p.Lys776Asn)
|
|
|
NM_000719.7(CACNA1C):c.232T>A (p.Ser78Thr)
|
rs1555193020
|
|
NM_000719.7(CACNA1C):c.2330A>G (p.Lys777Arg)
|
|
|
NM_000719.7(CACNA1C):c.2333T>C (p.Leu778Pro)
|
rs1060503447
|
|
NM_000719.7(CACNA1C):c.2339+5C>A
|
rs554086967
|
|
NM_000719.7(CACNA1C):c.2339+9C>G
|
rs2153229578
|
|
NM_000719.7(CACNA1C):c.2345C>G (p.Ala782Gly)
|
|
|
NM_000719.7(CACNA1C):c.2348G>A (p.Ser783Asn)
|
|
|
NM_000719.7(CACNA1C):c.2348G>T (p.Ser783Ile)
|
|
|
NM_000719.7(CACNA1C):c.2356A>G (p.Lys786Glu)
|
|
|
NM_000719.7(CACNA1C):c.2363A>C (p.Gln788Pro)
|
|
|
NM_000719.7(CACNA1C):c.2365G>C (p.Glu789Gln)
|
|
|
NM_000719.7(CACNA1C):c.2376G>T (p.Glu792Asp)
|
rs2153231554
|
|
NM_000719.7(CACNA1C):c.2380C>T (p.Pro794Ser)
|
rs2153231566
|
|
NM_000719.7(CACNA1C):c.2384C>T (p.Ala795Val)
|
|
|
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu)
|
|
|
NM_000719.7(CACNA1C):c.2389G>A (p.Gly797Arg)
|
rs2062048841
|
|
NM_000719.7(CACNA1C):c.2392G>A (p.Glu798Lys)
|
rs1175417421
|
|
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr)
|
|
|
NM_000719.7(CACNA1C):c.239_244delinsTTGCAGCTCC (p.Gln80fs)
|
rs2154137096
|
|
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del)
|
rs771014370
|
|
NM_000719.7(CACNA1C):c.2404G>A (p.Glu802Lys)
|
rs1555835003
|
|
NM_000719.7(CACNA1C):c.2405A>G (p.Glu802Gly)
|
|
|
NM_000719.7(CACNA1C):c.2407A>G (p.Lys803Glu)
|
|
|
NM_000719.7(CACNA1C):c.2408A>C (p.Lys803Thr)
|
rs2153231657
|
|
NM_000719.7(CACNA1C):c.2409G>T (p.Lys803Asn)
|
|
|
NM_000719.7(CACNA1C):c.2417T>C (p.Leu806Pro)
|
rs2062057793
|
|
NM_000719.7(CACNA1C):c.241C>T (p.Arg81Trp)
|
rs745759667
|
|
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln)
|
rs786205767
|
|
NM_000719.7(CACNA1C):c.2440G>T (p.Glu814Ter)
|
rs1555835190
|
|
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser)
|
rs1380611135
|
|
NM_000719.7(CACNA1C):c.2455A>C (p.Thr819Pro)
|
|
|
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala)
|
rs1453935757
|
|
NM_000719.7(CACNA1C):c.2460+1G>A
|
rs2153231763
|
|
NM_000719.7(CACNA1C):c.2460+5G>A
|
rs2062073653
|
|
NM_000719.7(CACNA1C):c.2460+5G>C
|
rs2062073653
|
|
NM_000719.7(CACNA1C):c.2464A>T (p.Asn822Tyr)
|
|
|
NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val)
|
rs786205752
|
|
NM_000719.7(CACNA1C):c.2470G>A (p.Asp824Asn)
|
|
|
NM_000719.7(CACNA1C):c.2481G>C (p.Gln827His)
|
|
|
NM_000719.7(CACNA1C):c.2486A>T (p.Asn829Ile)
|
|
|
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln)
|
rs774931483
|
|
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser)
|
|
|
NM_000719.7(CACNA1C):c.2530+1G>A
|
|
|
NM_000719.7(CACNA1C):c.2530+4C>T
|
rs2153232586
|
|
NM_000719.7(CACNA1C):c.2530+5C>T
|
rs1215984072
|
|
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys)
|
rs1295351612
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala)
|
|
|
NM_000719.7(CACNA1C):c.2557A>G (p.Met853Val)
|
rs2066332475
|
|
NM_000719.7(CACNA1C):c.2558T>C (p.Met853Thr)
|
|
|
NM_000719.7(CACNA1C):c.2559G>A (p.Met853Ile)
|
rs2066333241
|
|
NM_000719.7(CACNA1C):c.256T>C (p.Tyr86His)
|
|
|
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)
|
rs750835733
|
|
NM_000719.7(CACNA1C):c.2572C>A (p.Arg858Ser)
|
rs1409860214
|
|
NM_000719.7(CACNA1C):c.2573G>T (p.Arg858Leu)
|
|
|
NM_000719.7(CACNA1C):c.2574_2579del (p.858RP[1])
|
|
|
NM_000719.7(CACNA1C):c.2575C>T (p.Pro859Ser)
|
rs2153339297
|
|
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro)
|
rs730880056
|
|
NM_000719.7(CACNA1C):c.2581C>T (p.Pro861Ser)
|
rs786205754
|
|
NM_000719.7(CACNA1C):c.2582C>A (p.Pro861Gln)
|
|
|
NM_000719.7(CACNA1C):c.2584C>T (p.Leu862Phe)
|
rs2153339402
|
|
NM_000719.7(CACNA1C):c.2585T>C (p.Leu862Pro)
|
|
|
NM_000719.7(CACNA1C):c.2593C>G (p.Leu865Val)
|
rs752104120
|
|
NM_000719.7(CACNA1C):c.2615T>C (p.Val872Ala)
|
|
|
NM_000719.7(CACNA1C):c.2633G>C (p.Ser878Thr)
|
rs1060503446
|
|
NM_000719.7(CACNA1C):c.2633G>T (p.Ser878Ile)
|
rs1060503446
|
|
NM_000719.7(CACNA1C):c.2635G>A (p.Ala879Thr)
|
rs1568641351
|
|
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val)
|
rs1199713333
|
|
NM_000719.7(CACNA1C):c.2644A>G (p.Ile882Val)
|
|
|
NM_000719.7(CACNA1C):c.2650A>C (p.Ser884Arg)
|
rs777391300
|
|
NM_000719.7(CACNA1C):c.265C>G (p.Pro89Ala)
|
|
|
NM_000719.7(CACNA1C):c.2663+18G>A
|
|
|
NM_000719.7(CACNA1C):c.2663+1G>A
|
rs2153339994
|
|
NM_000719.7(CACNA1C):c.2663+3G>A
|
|
|
NM_000719.7(CACNA1C):c.2663+4T>G
|
rs190437147
|
|
NM_000719.7(CACNA1C):c.2664-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser)
|
rs754046062
|
|
NM_000719.7(CACNA1C):c.2664G>T (p.Arg888Ser)
|
|
|
NM_000719.7(CACNA1C):c.266C>T (p.Pro89Leu)
|
|
|
NM_000719.7(CACNA1C):c.2674C>G (p.Gln892Glu)
|
rs1555857966
|
|
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His)
|
rs786205755
|
|
NM_000719.7(CACNA1C):c.268A>C (p.Lys90Gln)
|
rs1555193186
|
|
NM_000719.7(CACNA1C):c.2690T>A (p.Val897Asp)
|
rs2067954202
|
|
NM_000719.7(CACNA1C):c.2693A>G (p.Asn898Ser)
|
rs2067955691
|
|
NM_000719.7(CACNA1C):c.2699C>T (p.Thr900Met)
|
|
|
NM_000719.7(CACNA1C):c.2723T>C (p.Phe908Ser)
|
|
|
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile)
|
rs786205264
|
|
NM_000719.7(CACNA1C):c.2764C>G (p.Pro922Ala)
|
rs1568658701
|
|
NM_000719.7(CACNA1C):c.2771A>G (p.Gln924Arg)
|
|
|
NM_000719.7(CACNA1C):c.2793T>G (p.His931Gln)
|
rs759991679
|
|
NM_000719.7(CACNA1C):c.2794-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2794-5T>C
|
rs1568666242
|
|
NM_000719.7(CACNA1C):c.2797_2798del (p.Leu933fs)
|
rs2153372148
|
|
NM_000719.7(CACNA1C):c.2804del (p.Tyr935fs)
|
rs2068769628
|
|
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys)
|
rs762624889
|
|
NM_000719.7(CACNA1C):c.2825C>G (p.Thr942Ser)
|
|
|
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val)
|
rs786205757
|
|
NM_000719.7(CACNA1C):c.2845G>T (p.Ala949Ser)
|
|
|
NM_000719.7(CACNA1C):c.284C>A (p.Thr95Asn)
|
rs759941975
|
|
NM_000719.7(CACNA1C):c.2853+148A>G
|
rs2068901363
|
|
NM_000719.7(CACNA1C):c.2853+155G>A
|
|
|
NM_000719.7(CACNA1C):c.2853+158A>G
|
rs1477159760
|
|
NM_000719.7(CACNA1C):c.2853+186T>C
|
|
|
NM_000719.7(CACNA1C):c.2853+202C>T
|
|
|
NM_000719.7(CACNA1C):c.2854-11C>G
|
rs2153406175
|
|
NM_000719.7(CACNA1C):c.2885G>A (p.Gly962Asp)
|
rs2153406309
|
|
NM_000719.7(CACNA1C):c.2905T>G (p.Phe969Val)
|
|
|
NM_000719.7(CACNA1C):c.2934C>T (p.Ser978=)
|
|
|
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met)
|
rs1555874590
|
|
NM_000719.7(CACNA1C):c.2947T>A (p.Ser983Thr)
|
rs2153406416
|
|
NM_000719.7(CACNA1C):c.2954G>T (p.Gly985Val)
|
rs2072557832
|
|
NM_000719.7(CACNA1C):c.2960+4A>G
|
|
|
NM_000719.7(CACNA1C):c.2961-19G>C
|
|
|
NM_000719.7(CACNA1C):c.2961-19G>T
|
|
|
NM_000719.7(CACNA1C):c.2961-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2965A>G (p.Ser989Gly)
|
rs1555878849
|
|
NM_000719.7(CACNA1C):c.2968G>C (p.Ala990Pro)
|
|
|
NM_000719.7(CACNA1C):c.2987T>C (p.Ile996Thr)
|
|
|
NM_000719.7(CACNA1C):c.2993G>A (p.Arg998Gln)
|
rs755609118
|
|
NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter)
|
rs1555879031
|
|
NM_000719.7(CACNA1C):c.3002G>A (p.Arg1001Gln)
|
rs1353433133
|
|
NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr)
|
|
|
NM_000719.7(CACNA1C):c.3048+3G>A
|
rs779548719
|
|
NM_000719.7(CACNA1C):c.3048+5G>A
|
|
|
NM_000719.7(CACNA1C):c.304C>T (p.Arg102Ter)
|
|
|
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg)
|
rs2153426949
|
|
NM_000719.7(CACNA1C):c.3061T>C (p.Cys1021Arg)
|
rs1057518301
|
|
NM_000719.7(CACNA1C):c.3061T>G (p.Cys1021Gly)
|
rs1057518301
|
|
NM_000719.7(CACNA1C):c.3073G>A (p.Ala1025Thr)
|
|
|
NM_000719.7(CACNA1C):c.3080G>A (p.Arg1027Gln)
|
rs2153427022
|
|
NM_000719.7(CACNA1C):c.3088G>A (p.Gly1030Arg)
|
rs1427052106
|
|
NM_000719.7(CACNA1C):c.3097G>A (p.Val1033Met)
|
rs2075018681
|
|
NM_000719.7(CACNA1C):c.3106A>G (p.Thr1036Ala)
|
rs2153427070
|
|
NM_000719.7(CACNA1C):c.3107C>G (p.Thr1036Ser)
|
rs2075019291
|
|
NM_000719.7(CACNA1C):c.3110C>G (p.Thr1037Ser)
|
|
|
NM_000719.7(CACNA1C):c.3139G>A (p.Gly1047Arg)
|
rs2075024622
|
|
NM_000719.7(CACNA1C):c.3140G>C (p.Gly1047Ala)
|
rs2153427151
|
|
NM_000719.7(CACNA1C):c.3156+5A>G
|
|
|
NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=)
|
rs764298283
|
|
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly)
|
|
|
NM_000719.7(CACNA1C):c.3202del (p.Glu1068fs)
|
rs1555881808
|
|
NM_000719.7(CACNA1C):c.3206G>A (p.Cys1069Tyr)
|
|
|
NM_000719.7(CACNA1C):c.3216C>A (p.Asn1072Lys)
|
rs1555882391
|
|
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu)
|
rs111606207
|
|
NM_000719.7(CACNA1C):c.3239A>T (p.Glu1080Val)
|
|
|
NM_000719.7(CACNA1C):c.3244G>A (p.Asp1082Asn)
|
|
|
NM_000719.7(CACNA1C):c.3248A>G (p.His1083Arg)
|
|
|
NM_000719.7(CACNA1C):c.3254_3260dup (p.Gln1087fs)
|
|
|
NM_000719.7(CACNA1C):c.3262C>A (p.Pro1088Thr)
|
|
|
NM_000719.7(CACNA1C):c.3262C>G (p.Pro1088Ala)
|
rs1384280348
|
|
NM_000719.7(CACNA1C):c.3263C>A (p.Pro1088His)
|
|
|
NM_000719.7(CACNA1C):c.3265C>T (p.Arg1089Cys)
|
rs2075701336
|
|
NM_000719.7(CACNA1C):c.3274G>A (p.Glu1092Lys)
|
|
|
NM_000719.7(CACNA1C):c.3281G>A (p.Ser1094Asn)
|
rs1165009288
|
|
NM_000719.7(CACNA1C):c.3284A>G (p.Lys1095Arg)
|
|
|
NM_000719.7(CACNA1C):c.3311C>G (p.Ala1104Gly)
|
rs987119986
|
|
NM_000719.7(CACNA1C):c.3311C>T (p.Ala1104Val)
|
rs987119986
|
|
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys)
|
rs199473391
|
|
NM_000719.7(CACNA1C):c.3344A>G (p.Glu1115Gly)
|
rs1555882813
|
|
NM_000719.7(CACNA1C):c.3347G>C (p.Gly1116Ala)
|
rs878854141
|
|
NM_000719.7(CACNA1C):c.3357G>C (p.Glu1119Asp)
|
rs1555884341
|
|
NM_000719.7(CACNA1C):c.3358C>G (p.Leu1120Val)
|
|
|
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His)
|
rs745853358
|
|
NM_000719.7(CACNA1C):c.3370T>A (p.Ser1124Thr)
|
|
|
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val)
|
rs727503834
|
|
NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn)
|
|
|
NM_000719.7(CACNA1C):c.3398G>A (p.Gly1133Asp)
|
rs1555884489
|
|
NM_000719.7(CACNA1C):c.3405C>G (p.Ile1135Met)
|
rs1324768943
|
|
NM_000719.7(CACNA1C):c.3410A>G (p.Asn1137Ser)
|
|
|
NM_000719.7(CACNA1C):c.3420G>A (p.Val1140=)
|
rs1555884613
|
|
NM_000719.7(CACNA1C):c.3434T>C (p.Phe1145Ser)
|
|
|
NM_000719.7(CACNA1C):c.3448ATC[3] (p.Ile1153del)
|
rs1601930701
|
|
NM_000719.7(CACNA1C):c.3454A>T (p.Ile1152Phe)
|
rs767564907
|
|
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val)
|
rs370798052
|
|
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr)
|
rs1601930985
|
|
NM_000719.7(CACNA1C):c.3460G>T (p.Ala1154Ser)
|
rs1601930985
|
|
NM_000719.7(CACNA1C):c.3461C>T (p.Ala1154Val)
|
rs786205758
|
|
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
|
|
|
NM_000719.7(CACNA1C):c.3473T>A (p.Met1158Lys)
|
rs2076323856
|
|
NM_000719.7(CACNA1C):c.3483C>G (p.Phe1161Leu)
|
|
|
NM_000719.7(CACNA1C):c.3484G>A (p.Val1162Met)
|
|
|
NM_000719.7(CACNA1C):c.3484G>C (p.Val1162Leu)
|
rs2076324884
|
|
NM_000719.7(CACNA1C):c.3493G>A (p.Val1165Ile)
|
|
|
NM_000719.7(CACNA1C):c.3499G>A (p.Val1167Ile)
|
rs2076328331
|
|
NM_000719.7(CACNA1C):c.3502A>G (p.Thr1168Ala)
|
|
|
NM_000719.7(CACNA1C):c.352A>G (p.Ile118Val)
|
|
|
NM_000719.7(CACNA1C):c.3534G>T (p.Lys1178Asn)
|
rs868413395
|
|
NM_000719.7(CACNA1C):c.3539G>A (p.Cys1180Tyr)
|
|
|
NM_000719.7(CACNA1C):c.3544C>G (p.Leu1182Val)
|
|
|
NM_000719.7(CACNA1C):c.3552G>T (p.Lys1184Asn)
|
rs2076336777
|
|
NM_000719.7(CACNA1C):c.3558+4G>A
|
|
|
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr)
|
rs1251955384
|
|
NM_000719.7(CACNA1C):c.358A>G (p.Ile120Val)
|
rs2154137217
|
|
NM_000719.7(CACNA1C):c.3598C>T (p.Arg1200Trp)
|
|
|
NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter)
|
rs895560697
|
|
NM_000719.7(CACNA1C):c.3627G>T (p.Gln1209His)
|
|
|
NM_000719.7(CACNA1C):c.3628T>C (p.Tyr1210His)
|
rs2153449886
|
|
NM_000719.7(CACNA1C):c.362T>C (p.Val121Ala)
|
rs2154137228
|
|
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu)
|
rs786205759
|
|
NM_000719.7(CACNA1C):c.3643G>A (p.Val1215Met)
|
rs747533547
|
|
NM_000719.7(CACNA1C):c.3646G>A (p.Val1216Ile)
|
|
|
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys)
|
|
|
NM_000719.7(CACNA1C):c.3663C>G (p.Phe1221Leu)
|
rs369646222
|
|
NM_000719.7(CACNA1C):c.3671del (p.Leu1224fs)
|
rs886043670
|
|
NM_000719.7(CACNA1C):c.3678C>G (p.Phe1226Leu)
|
rs775309900
|
|
NM_000719.7(CACNA1C):c.3701T>A (p.Ile1234Asn)
|
rs786205780
|
|
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val)
|
rs2077233710
|
|
NM_000719.7(CACNA1C):c.3718-14C>G
|
rs1555888662
|
|
NM_000719.7(CACNA1C):c.3718-5T>C
|
|
|
NM_000719.7(CACNA1C):c.3724G>A (p.Gly1242Ser)
|
rs1131691881
|
|
NM_000719.7(CACNA1C):c.3748G>T (p.Ala1250Ser)
|
rs373930708
|
|
NM_000719.7(CACNA1C):c.3749C>T (p.Ala1250Val)
|
|
|
NM_000719.7(CACNA1C):c.3751A>G (p.Met1251Val)
|
|
|
NM_000719.7(CACNA1C):c.3766A>T (p.Met1256Leu)
|
|
|
NM_000719.7(CACNA1C):c.3812T>C (p.Ile1271Thr)
|
rs2078042038
|
|
NM_000719.7(CACNA1C):c.3819C>G (p.Phe1273Leu)
|
|
|
NM_000719.7(CACNA1C):c.3824C>T (p.Pro1275Leu)
|
rs1568791833
|
|
NM_000719.7(CACNA1C):c.3828+5G>A
|
|
|
NM_000719.7(CACNA1C):c.3828+5G>T
|
rs2078046814
|
|
NM_000719.7(CACNA1C):c.3830A>G (p.His1277Arg)
|
|
|
NM_000719.7(CACNA1C):c.3839G>T (p.Cys1280Phe)
|
|
|
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)
|
rs367895193
|
|
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser)
|
|
|
NM_000719.7(CACNA1C):c.3866T>G (p.Leu1289Trp)
|
rs2153572497
|
|
NM_000719.7(CACNA1C):c.3876G>A (p.Val1292=)
|
|
|
NM_000719.7(CACNA1C):c.3886G>A (p.Val1296Ile)
|
|
|
NM_000719.7(CACNA1C):c.3894A>G (p.Ile1298Met)
|
rs2153572525
|
|
NM_000719.7(CACNA1C):c.3898A>G (p.Ile1300Val)
|
rs1603022300
|
|
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys)
|
rs886038890
|
|
NM_000719.7(CACNA1C):c.3906G>C (p.Glu1302Asp)
|
|
|
NM_000719.7(CACNA1C):c.3913-18A>G
|
|
|
NM_000719.7(CACNA1C):c.3913C>A (p.Pro1305Thr)
|
|
|
NM_000719.7(CACNA1C):c.3926C>G (p.Thr1309Ser)
|
rs2094568640
|
|
NM_000719.7(CACNA1C):c.3929A>C (p.Gln1310Pro)
|
|
|
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His)
|
rs369262825
|
|
NM_000719.7(CACNA1C):c.3932G>A (p.Cys1311Tyr)
|
|
|
NM_000719.7(CACNA1C):c.3934T>C (p.Ser1312Pro)
|
rs749298267
|
|
NM_000719.7(CACNA1C):c.3946-10C>G
|
rs370630496
|
|
NM_000719.7(CACNA1C):c.3946-21_3946-19del
|
|
|
NM_000719.7(CACNA1C):c.3946-44C>T
|
rs760982440
|
|
NM_000719.7(CACNA1C):c.3946-59C>G
|
|
|
NM_000719.7(CACNA1C):c.3950C>T (p.Ala1317Val)
|
|
|
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe)
|
rs779278894
|
|
NM_000719.7(CACNA1C):c.3965G>T (p.Arg1322Leu)
|
|
|
NM_000719.7(CACNA1C):c.3976A>G (p.Thr1326Ala)
|
rs1164784884
|
|
NM_000719.7(CACNA1C):c.3977C>T (p.Thr1326Ile)
|
|
|
NM_000719.7(CACNA1C):c.3995G>A (p.Arg1332Gln)
|
rs2153655235
|
|
NM_000719.7(CACNA1C):c.3G>C (p.Met1Ile)
|
|
|
NM_000719.7(CACNA1C):c.3G>T (p.Met1Ile)
|
|
|
NM_000719.7(CACNA1C):c.4004G>C (p.Arg1335Pro)
|
|
|
NM_000719.7(CACNA1C):c.4022G>T (p.Ser1341Ile)
|
|
|
NM_000719.7(CACNA1C):c.4024C>T (p.Arg1342Cys)
|
rs2094999086
|
|
NM_000719.7(CACNA1C):c.4025G>A (p.Arg1342His)
|
rs1365999989
|
|
NM_000719.7(CACNA1C):c.4028G>A (p.Gly1343Glu)
|
|
|
NM_000719.7(CACNA1C):c.4043C>T (p.Thr1348Met)
|
|
|
NM_000719.7(CACNA1C):c.4078C>G (p.Leu1360Val)
|
rs752125137
|
|
NM_000719.7(CACNA1C):c.4100T>C (p.Ile1367Thr)
|
|
|
NM_000719.7(CACNA1C):c.4101C>G (p.Ile1367Met)
|
rs201174821
|
|
NM_000719.7(CACNA1C):c.4102G>A (p.Val1368Met)
|
|
|
NM_000719.7(CACNA1C):c.4102G>T (p.Val1368Leu)
|
rs1234874360
|
|
NM_000719.7(CACNA1C):c.4123G>A (p.Ala1375Thr)
|
|
|
NM_000719.7(CACNA1C):c.4135A>G (p.Met1379Val)
|
rs2095262521
|
|
NM_000719.7(CACNA1C):c.4165G>T (p.Asp1389Tyr)
|
rs768062636
|
|
NM_000719.7(CACNA1C):c.4176G>C (p.Glu1392Asp)
|
rs1603374773
|
|
NM_000719.7(CACNA1C):c.4193A>G (p.Asn1398Ser)
|
|
|
NM_000719.7(CACNA1C):c.4202C>G (p.Thr1401Ser)
|
rs2153668947
|
|
NM_000719.7(CACNA1C):c.4210C>G (p.Gln1404Glu)
|
|
|
NM_000719.7(CACNA1C):c.4213del (p.Ala1405fs)
|
rs2095348902
|
|
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met)
|
rs753204879
|
|
NM_000719.7(CACNA1C):c.423A>T (p.Leu141Phe)
|
|
|
NM_000719.7(CACNA1C):c.4254G>A (p.Trp1418Ter)
|
rs1131692329
|
|
NM_000719.7(CACNA1C):c.425C>T (p.Ala142Val)
|
|
|
NM_000719.7(CACNA1C):c.4279C>G (p.Pro1427Ala)
|
rs2153706726
|
|
NM_000719.7(CACNA1C):c.4290G>C (p.Lys1430Asn)
|
rs767790076
|
|
NM_000719.7(CACNA1C):c.4305dup (p.Glu1436fs)
|
|
|
NM_000719.7(CACNA1C):c.4312A>G (p.Ser1438Gly)
|
|
|
NM_000719.7(CACNA1C):c.4313G>C (p.Ser1438Thr)
|
|
|
NM_000719.7(CACNA1C):c.4317C>A (p.Asn1439Lys)
|
|
|
NM_000719.7(CACNA1C):c.4334C>T (p.Thr1445Ile)
|
rs1555994788
|
|
NM_000719.7(CACNA1C):c.4336C>A (p.Pro1446Thr)
|
rs758143691
|
|
NM_000719.7(CACNA1C):c.4336C>G (p.Pro1446Ala)
|
rs758143691
|
|
NM_000719.7(CACNA1C):c.4343G>A (p.Gly1448Asp)
|
|
|
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn)
|
rs1009822245
|
|
NM_000719.7(CACNA1C):c.4357G>A (p.Val1453Ile)
|
rs1275537466
|
|
NM_000719.7(CACNA1C):c.4369A>T (p.Ile1457Phe)
|
rs781315664
|
|
NM_000719.7(CACNA1C):c.4370T>C (p.Ile1457Thr)
|
|
|
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu)
|
rs886038809
|
|
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu)
|
rs1555997051
|
|
NM_000719.7(CACNA1C):c.4432A>C (p.Asn1478His)
|
rs2096050552
|
|
NM_000719.7(CACNA1C):c.4436T>C (p.Phe1479Ser)
|
rs2096050688
|
|
NM_000719.7(CACNA1C):c.4448C>A (p.Thr1483Lys)
|
|
|
NM_000719.7(CACNA1C):c.4453dup (p.Asp1485fs)
|
|
|
NM_000719.7(CACNA1C):c.4458G>C (p.Trp1486Cys)
|
|
|
NM_000719.7(CACNA1C):c.4477C>G (p.His1493Asp)
|
|
|
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)
|
rs1297869395
|
|
NM_000719.7(CACNA1C):c.4511A>G (p.Tyr1504Cys)
|
rs2153709630
|
|
NM_000719.7(CACNA1C):c.4519G>A (p.Glu1507Lys)
|
|
|
NM_000719.7(CACNA1C):c.4522G>A (p.Ala1508Thr)
|
|
|
NM_000719.7(CACNA1C):c.4526+6T>C
|
|
|
NM_000719.7(CACNA1C):c.4527G>A (p.Lys1509=)
|
|
|
NM_000719.7(CACNA1C):c.4531C>T (p.Arg1511Cys)
|
rs2096134235
|
|
NM_000719.7(CACNA1C):c.4549GTG[1] (p.Val1518del)
|
|
|
NM_000719.7(CACNA1C):c.4558C>A (p.Leu1520Ile)
|
rs1032623545
|
|
NM_000719.7(CACNA1C):c.4565G>A (p.Arg1522Gln)
|
rs1420232852
|
|
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp)
|
|
|
NM_000719.7(CACNA1C):c.4574A>C (p.Gln1525Pro)
|
rs2153713256
|
|
NM_000719.7(CACNA1C):c.4577del (p.Pro1526fs)
|
|
|
NM_000719.7(CACNA1C):c.457A>G (p.Asn153Asp)
|
|
|
NM_000719.7(CACNA1C):c.4597C>G (p.Leu1533Val)
|
|
|
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
|
|
|
NM_000719.7(CACNA1C):c.4623+4A>G
|
|
|
NM_000719.7(CACNA1C):c.4625G>A (p.Arg1542His)
|
rs771053661
|
|
NM_000719.7(CACNA1C):c.4625G>T (p.Arg1542Leu)
|
rs771053661
|
|
NM_000719.7(CACNA1C):c.4637T>C (p.Met1546Thr)
|
rs2096394299
|
|
NM_000719.7(CACNA1C):c.4653C>G (p.Asn1551Lys)
|
rs2096394447
|
|
NM_000719.7(CACNA1C):c.4657G>A (p.Asp1553Asn)
|
rs2153729186
|
|
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs)
|
rs2096394881
|
|
NM_000719.7(CACNA1C):c.467A>G (p.Asn156Ser)
|
|
|
NM_000719.7(CACNA1C):c.4703C>T (p.Thr1568Met)
|
|
|
NM_000719.7(CACNA1C):c.4705G>A (p.Ala1569Thr)
|
rs1603435357
|
|
NM_000719.7(CACNA1C):c.4723G>A (p.Glu1575Lys)
|
|
|
NM_000719.7(CACNA1C):c.4726+6G>T
|
|
|
NM_000719.7(CACNA1C):c.4727-6C>T
|
rs886042224
|
|
NM_000719.7(CACNA1C):c.4753C>G (p.Leu1585Val)
|
|
|
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
|
|
|
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val)
|
rs751224055
|
|
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)
|
rs756364065
|
|
NM_000719.7(CACNA1C):c.477+100598G>A
|
|
|
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn)
|
rs786205763
|
|
NM_000719.7(CACNA1C):c.478-10_478-5del
|
rs2154562849
|
|
NM_000719.7(CACNA1C):c.478-3T>C
|
rs2154562852
|
|
NM_000719.7(CACNA1C):c.4783C>T (p.Arg1595Trp)
|
|
|
NM_000719.7(CACNA1C):c.4784G>A (p.Arg1595Gln)
|
rs1313283709
|
|
NM_000719.7(CACNA1C):c.4786A>C (p.Thr1596Pro)
|
|
|
NM_000719.7(CACNA1C):c.4793T>C (p.Met1598Thr)
|
rs2153756848
|
|
NM_000719.7(CACNA1C):c.4796A>G (p.Lys1599Arg)
|
|
|
NM_000719.7(CACNA1C):c.4804G>A (p.Asp1602Asn)
|
rs2096712046
|
|
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala)
|
rs745938574
|
|
NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter)
|
rs1555599537
|
|
NM_000719.7(CACNA1C):c.4828+1G>A
|
rs2153757423
|
|
NM_000719.7(CACNA1C):c.4830T>G (p.Asp1610Glu)
|
rs2153787228
|
|
NM_000719.7(CACNA1C):c.4837G>T (p.Val1613Phe)
|
rs757629968
|
|
NM_000719.7(CACNA1C):c.4843G>A (p.Val1615Ile)
|
|
|
NM_000719.7(CACNA1C):c.4858G>A (p.Ala1620Thr)
|
rs2096864308
|
|
NM_000719.7(CACNA1C):c.4862C>T (p.Thr1621Met)
|
rs2153787309
|
|
NM_000719.7(CACNA1C):c.4879T>A (p.Tyr1627Asn)
|
rs2096864586
|
|
NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp)
|
|
|
NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln)
|
|
|
NM_000719.7(CACNA1C):c.49+1G>A
|
rs2154502706
|
|
NM_000719.7(CACNA1C):c.49+3A>G
|
|
|
NM_000719.7(CACNA1C):c.49+5G>A
|
|
|
NM_000719.7(CACNA1C):c.49+6G>A
|
|
|
NM_000719.7(CACNA1C):c.4910A>G (p.Gln1637Arg)
|
|
|
NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg)
|
rs786205772
|
|
NM_000719.7(CACNA1C):c.4911G>C (p.Gln1637His)
|
|
|
NM_000719.7(CACNA1C):c.4912G>A (p.Gly1638Ser)
|
|
|
NM_000719.7(CACNA1C):c.4918G>A (p.Val1640Met)
|
rs2096865558
|
|
NM_000719.7(CACNA1C):c.4941C>G (p.Asn1647Lys)
|
rs773832706
|
|
NM_000719.7(CACNA1C):c.4942G>C (p.Ala1648Pro)
|
|
|
NM_000719.7(CACNA1C):c.4949C>G (p.Ser1650Cys)
|
rs2153787618
|
|
NM_000719.7(CACNA1C):c.4957-1G>A
|
|
|
NM_000719.7(CACNA1C):c.4958C>T (p.Ala1653Val)
|
|
|
NM_000719.7(CACNA1C):c.4966C>A (p.Arg1656Ser)
|
rs752021213
|
|
NM_000719.7(CACNA1C):c.4966C>T (p.Arg1656Cys)
|
rs752021213
|
|
NM_000719.7(CACNA1C):c.4967G>A (p.Arg1656His)
|
rs2096898275
|
|
NM_000719.7(CACNA1C):c.4970C>A (p.Thr1657Lys)
|
rs2153791120
|
|
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)
|
rs778011390
|
|
NM_000719.7(CACNA1C):c.4984G>C (p.Gly1662Arg)
|
|
|
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter)
|
|
|
NM_000719.7(CACNA1C):c.50-1G>C
|
|
|
NM_000719.7(CACNA1C):c.5000G>A (p.Arg1667Gln)
|
|
|
NM_000719.7(CACNA1C):c.5026GAG[2] (p.Glu1678del)
|
rs786205773
|
|
NM_000719.7(CACNA1C):c.502A>G (p.Ile168Val)
|
|
|
NM_000719.7(CACNA1C):c.5033A>G (p.Glu1678Gly)
|
rs786205781
|
|
NM_000719.7(CACNA1C):c.5038G>A (p.Asp1680Asn)
|
rs2153791339
|
|
NM_000719.7(CACNA1C):c.5039A>G (p.Asp1680Gly)
|
rs1556050949
|
|
NM_000719.7(CACNA1C):c.5047A>C (p.Met1683Leu)
|
|
|
NM_000719.7(CACNA1C):c.5048T>G (p.Met1683Arg)
|
rs1231959976
|
|
NM_000719.7(CACNA1C):c.5065G>T (p.Ala1689Ser)
|
|
|
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del)
|
rs1569209887
|
|
NM_000719.7(CACNA1C):c.5077G>A (p.Asp1693Asn)
|
rs2096900883
|
|
NM_000719.7(CACNA1C):c.5083A>G (p.Ile1695Val)
|
|
|
NM_000719.7(CACNA1C):c.5084T>C (p.Ile1695Thr)
|
rs1479799949
|
|
NM_000719.7(CACNA1C):c.5091+1G>A
|
rs2153791497
|
|
NM_000719.7(CACNA1C):c.5091+4G>C
|
rs2096901252
|
|
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg)
|
rs761966966
|
|
NM_000719.7(CACNA1C):c.50G>A (p.Gly17Asp)
|
rs747083495
|
|
NM_000719.7(CACNA1C):c.50G>C (p.Gly17Ala)
|
rs747083495
|
|
NM_000719.7(CACNA1C):c.5109C>G (p.Phe1703Leu)
|
rs767569416
|
|
NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp)
|
rs949737894
|
|
NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln)
|
|
|
NM_000719.7(CACNA1C):c.5125T>C (p.Tyr1709His)
|
|
|
NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn)
|
|
|
NM_000719.7(CACNA1C):c.5131C>G (p.Gln1711Glu)
|
|
|
NM_000719.7(CACNA1C):c.5139C>A (p.Asp1713Glu)
|
rs115216455
|
|
NM_000719.7(CACNA1C):c.5141G>T (p.Gly1714Val)
|
|
|
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp)
|
rs373996684
|
|
NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs)
|
rs1556099231
|
|
NM_000719.7(CACNA1C):c.5150C>T (p.Ala1717Val)
|
rs201492706
|
|
NM_000719.7(CACNA1C):c.5158C>G (p.Gln1720Glu)
|
rs1008863902
|
|
NM_000719.7(CACNA1C):c.5162C>T (p.Thr1721Ile)
|
|
|
NM_000719.7(CACNA1C):c.5168C>T (p.Thr1723Ile)
|
|
|
NM_000719.7(CACNA1C):c.5174A>C (p.Gln1725Pro)
|
rs1440200184
|
|
NM_000719.7(CACNA1C):c.5174A>T (p.Gln1725Leu)
|
|
|
NM_000719.7(CACNA1C):c.5176C>T (p.Arg1726Cys)
|
|
|
NM_000719.7(CACNA1C):c.5177G>A (p.Arg1726His)
|
rs377564636
|
|
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu)
|
rs2153803252
|
|
NM_000719.7(CACNA1C):c.5190CAA[1] (p.Asn1731del)
|
|
|
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp)
|
|
|
NM_000719.7(CACNA1C):c.5200G>A (p.Gly1734Ser)
|
|
|
NM_000719.7(CACNA1C):c.5201del (p.Gly1734fs)
|
rs1556105540
|
|
NM_000719.7(CACNA1C):c.520G>C (p.Ala174Pro)
|
rs2154562867
|
|
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)
|
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.521C>G (p.Ala174Gly)
|
|
|
NM_000719.7(CACNA1C):c.521C>T (p.Ala174Val)
|
|
|
NM_000719.7(CACNA1C):c.5245G>A (p.Val1749Met)
|
rs1556109769
|
|
NM_000719.7(CACNA1C):c.5246T>C (p.Val1749Ala)
|
|
|
NM_000719.7(CACNA1C):c.5252C>G (p.Ser1751Cys)
|
rs2153803516
|
|
NM_000719.7(CACNA1C):c.5254A>G (p.Thr1752Ala)
|
rs1603450773
|
|
NM_000719.7(CACNA1C):c.5264C>T (p.Pro1755Leu)
|
rs755513147
|
|
NM_000719.7(CACNA1C):c.5270G>A (p.Ser1757Asn)
|
rs753388569
|
|
NM_000719.7(CACNA1C):c.5284G>A (p.Gly1762Ser)
|
|
|
NM_000719.7(CACNA1C):c.5294C>A (p.Ala1765Asp)
|
rs2097024221
|
|
NM_000719.7(CACNA1C):c.5294C>T (p.Ala1765Val)
|
|
|
NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val)
|
rs2153803721
|
|
NM_000719.7(CACNA1C):c.5300_5314del (p.Ile1767_Asn1771del)
|
rs765818401
|
|
NM_000719.7(CACNA1C):c.5300_5314dup (p.Asn1771_Asn1772insIleAsnAsnAlaAsn)
|
|
|
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr)
|
rs912150219
|
|
NM_000719.7(CACNA1C):c.5315A>C (p.Asn1772Thr)
|
|
|
NM_000719.7(CACNA1C):c.531A>G (p.Lys177=)
|
|
|
NM_000719.7(CACNA1C):c.5320G>T (p.Ala1774Ser)
|
|
|
NM_000719.7(CACNA1C):c.5339G>T (p.Arg1780Leu)
|
rs756829999
|
|
NM_000719.7(CACNA1C):c.5344G>C (p.Ala1782Pro)
|
rs750078053
|
|
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys)
|
rs781633980
|
|
NM_000719.7(CACNA1C):c.5350_5386del (p.Tyr1784fs)
|
rs2153803935
|
|
NM_000719.7(CACNA1C):c.5353C>A (p.Pro1785Thr)
|
|
|
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr)
|
rs1309430190
|
|
NM_000719.7(CACNA1C):c.5371G>A (p.Val1791Met)
|
|
|
NM_000719.7(CACNA1C):c.5380C>T (p.His1794Tyr)
|
rs2153804093
|
|
NM_000719.7(CACNA1C):c.5382C>A (p.His1794Gln)
|
rs377680168
|
|
NM_000719.7(CACNA1C):c.5386C>A (p.Pro1796Thr)
|
rs760430207
|
|
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro)
|
rs201918158
|
|
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu)
|
|
|
NM_000719.7(CACNA1C):c.5413C>G (p.Gln1805Glu)
|
rs2153804286
|
|
NM_000719.7(CACNA1C):c.5416G>A (p.Glu1806Lys)
|
|
|
NM_000719.7(CACNA1C):c.5417A>G (p.Glu1806Gly)
|
rs757371746
|
|
NM_000719.7(CACNA1C):c.541T>C (p.Tyr181His)
|
rs2099328222
|
|
NM_000719.7(CACNA1C):c.542A>G (p.Tyr181Cys)
|
|
|
NM_000719.7(CACNA1C):c.5431C>T (p.Leu1811Phe)
|
|
|
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn)
|
rs1556123007
|
|
NM_000719.7(CACNA1C):c.5444+584T>G
|
rs2153807364
|
|
NM_000719.7(CACNA1C):c.5444+613C>G
|
|
|
NM_000719.7(CACNA1C):c.5444+623G>A
|
rs750528395
|
|
NM_000719.7(CACNA1C):c.5444+680A>G
|
rs2153807931
|
|
NM_000719.7(CACNA1C):c.5445-3T>C
|
|
|
NM_000719.7(CACNA1C):c.5445-496G>A
|
rs2153815776
|
|
NM_000719.7(CACNA1C):c.5468C>G (p.Ala1823Gly)
|
|
|
NM_000719.7(CACNA1C):c.5474T>C (p.Met1825Thr)
|
|
|
NM_000719.7(CACNA1C):c.5476_5490dup (p.Glu1830_Thr1831insAlaGlyGlnGluGlu)
|
|
|
NM_000719.7(CACNA1C):c.5480G>A (p.Gly1827Asp)
|
rs1374608352
|
|
NM_000719.7(CACNA1C):c.5485GAG[1] (p.Glu1830del)
|
rs1603457578
|
|
NM_000719.7(CACNA1C):c.5500G>A (p.Asp1834Asn)
|
|
|
NM_000719.7(CACNA1C):c.5502T>G (p.Asp1834Glu)
|
rs754547434
|
|
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys)
|
rs1060503442
|
|
NM_000719.7(CACNA1C):c.5518A>G (p.Lys1840Glu)
|
|
|
NM_000719.7(CACNA1C):c.5522T>A (p.Met1841Lys)
|
|
|
NM_000719.7(CACNA1C):c.5525A>C (p.Asn1842Thr)
|
rs886049207
|
|
NM_000719.7(CACNA1C):c.5525A>G (p.Asn1842Ser)
|
rs886049207
|
|
NM_000719.7(CACNA1C):c.5528A>G (p.His1843Arg)
|
|
|
NM_000719.7(CACNA1C):c.5529T>G (p.His1843Gln)
|
rs371831239
|
|
NM_000719.7(CACNA1C):c.5534C>T (p.Thr1845Met)
|
rs779315017
|
|
NM_000719.7(CACNA1C):c.5561T>C (p.Leu1854Pro)
|
rs1556205510
|
|
NM_000719.7(CACNA1C):c.5564C>T (p.Ser1855Phe)
|
|
|
NM_000719.7(CACNA1C):c.5567C>G (p.Thr1856Arg)
|
rs976958765
|
|
NM_000719.7(CACNA1C):c.5569G>A (p.Glu1857Lys)
|
rs1330775539
|
|
NM_000719.7(CACNA1C):c.5570A>G (p.Glu1857Gly)
|
|
|
NM_000719.7(CACNA1C):c.5573+5G>C
|
rs786205768
|
|
NM_000719.7(CACNA1C):c.5573+6C>T
|
|
|
NM_000719.7(CACNA1C):c.5574-13C>A
|
rs1265215318
|
|
NM_000719.7(CACNA1C):c.5585A>G (p.Gln1862Arg)
|
|
|
NM_000719.7(CACNA1C):c.5590G>A (p.Asp1864Asn)
|
|
|
NM_000719.7(CACNA1C):c.5609C>A (p.Thr1870Lys)
|
rs201777030
|
|
NM_000719.7(CACNA1C):c.5612T>G (p.Leu1871Arg)
|
rs2153834664
|
|
NM_000719.7(CACNA1C):c.5619G>C (p.Glu1873Asp)
|
|
|
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)
|
rs757172314
|
|
NM_000719.7(CACNA1C):c.5620G>A (p.Glu1874Lys)
|
|
|
NM_000719.7(CACNA1C):c.5623G>C (p.Asp1875His)
|
|
|
NM_000719.7(CACNA1C):c.5626A>G (p.Lys1876Glu)
|
rs869025368
|
|
NM_000719.7(CACNA1C):c.5636T>C (p.Ile1879Thr)
|
|
|
NM_000719.7(CACNA1C):c.5636T>G (p.Ile1879Ser)
|
rs2097428184
|
|
NM_000719.7(CACNA1C):c.563A>G (p.Asn188Ser)
|
|
|
NM_000719.7(CACNA1C):c.5654G>C (p.Arg1885Thr)
|
|
|
NM_000719.7(CACNA1C):c.5665C>A (p.Arg1889Ser)
|
|
|
NM_000719.7(CACNA1C):c.5668T>C (p.Ser1890Pro)
|
|
|
NM_000719.7(CACNA1C):c.5680G>A (p.Gly1894Ser)
|
rs2097429400
|
|
NM_000719.7(CACNA1C):c.5681G>A (p.Gly1894Asp)
|
rs370682334
|
|
NM_000719.7(CACNA1C):c.5687G>A (p.Arg1896Lys)
|
rs2153836170
|
|
NM_000719.7(CACNA1C):c.5692T>C (p.Ser1898Pro)
|
rs2097473904
|
|
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=)
|
rs537002656
|
|
NM_000719.7(CACNA1C):c.5711_5712del (p.Leu1904fs)
|
|
|
NM_000719.7(CACNA1C):c.5716C>T (p.Arg1906Ter)
|
rs78593627
|
|
NM_000719.7(CACNA1C):c.5717G>T (p.Arg1906Leu)
|
|
|
NM_000719.7(CACNA1C):c.5728C>G (p.Arg1910Gly)
|
rs1556291640
|
|
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter)
|
rs1556291640
|
|
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg)
|
rs374528680
|
|
NM_000719.7(CACNA1C):c.5735G>A (p.Gly1912Glu)
|
rs2097476034
|
|
NM_000719.7(CACNA1C):c.5739C>A (p.Asp1913Glu)
|
rs1391330801
|
|
NM_000719.7(CACNA1C):c.5741T>A (p.Ile1914Asn)
|
|
|
NM_000719.7(CACNA1C):c.5741T>G (p.Ile1914Ser)
|
rs1603462676
|
|
NM_000719.7(CACNA1C):c.575G>A (p.Arg192His)
|
|
|
NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser)
|
rs1603462691
|
|
NM_000719.7(CACNA1C):c.5771T>C (p.Leu1924Pro)
|
rs2097477596
|
|
NM_000719.7(CACNA1C):c.5773G>T (p.Val1925Phe)
|
|
|
NM_000719.7(CACNA1C):c.5779C>A (p.His1927Asn)
|
rs750568562
|
|
NM_000719.7(CACNA1C):c.5779C>G (p.His1927Asp)
|
rs750568562
|
|
NM_000719.7(CACNA1C):c.5784+4G>T
|
rs2097478141
|
|
NM_000719.7(CACNA1C):c.5789T>C (p.Leu1930Ser)
|
|
|
NM_000719.7(CACNA1C):c.5798C>G (p.Ala1933Gly)
|
|
|
NM_000719.7(CACNA1C):c.5813TCC[1] (p.Leu1939del)
|
rs758451142
|
|
NM_000719.7(CACNA1C):c.5817C>T (p.Leu1939=)
|
|
|
NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His)
|
|
|
NM_000719.7(CACNA1C):c.5839T>C (p.Ser1947Pro)
|
|
|
NM_000719.7(CACNA1C):c.583T>A (p.Trp195Arg)
|
rs2154562876
|
|
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg)
|
rs2154562876
|
|
NM_000719.7(CACNA1C):c.5851C>G (p.Pro1951Ala)
|
|
|
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)
|
rs762896810
|
|
NM_000719.7(CACNA1C):c.5858C>T (p.Ala1953Val)
|
rs759733868
|
|
NM_000719.7(CACNA1C):c.585G>A (p.Trp195Ter)
|
|
|
NM_000719.7(CACNA1C):c.5867C>A (p.Pro1956Gln)
|
|
|
NM_000719.7(CACNA1C):c.5869G>C (p.Ala1957Pro)
|
rs1603466869
|
|
NM_000719.7(CACNA1C):c.5870C>A (p.Ala1957Asp)
|
rs1323011590
|
|
NM_000719.7(CACNA1C):c.5872del (p.Thr1958fs)
|
|
|
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile)
|
rs377173230
|
|
NM_000719.7(CACNA1C):c.5889C>T (p.Gly1963=)
|
rs2153865176
|
|
NM_000719.7(CACNA1C):c.5890T>A (p.Trp1964Arg)
|
|
|
NM_000719.7(CACNA1C):c.5893C>T (p.Pro1965Ser)
|
rs745417641
|
|
NM_000719.7(CACNA1C):c.5899C>G (p.Gln1967Glu)
|
|
|
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His)
|
rs2153865329
|
|
NM_000719.7(CACNA1C):c.5909C>T (p.Pro1970Leu)
|
|
|
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp)
|
rs774402582
|
|
NM_000719.7(CACNA1C):c.5924A>C (p.Glu1975Ala)
|
rs1556308664
|
|
NM_000719.7(CACNA1C):c.5927G>A (p.Gly1976Glu)
|
rs2097648681
|
|
NM_000719.7(CACNA1C):c.5929G>C (p.Val1977Leu)
|
rs786205741
|
|
NM_000719.7(CACNA1C):c.5933A>G (p.Glu1978Gly)
|
rs2097648970
|
|
NM_000719.7(CACNA1C):c.5938A>G (p.Ser1980Gly)
|
|
|
NM_000719.7(CACNA1C):c.5947C>G (p.Leu1983Val)
|
|
|
NM_000719.7(CACNA1C):c.5956A>G (p.Ser1986Gly)
|
rs2153866077
|
|
NM_000719.7(CACNA1C):c.5977G>A (p.Gly1993Ser)
|
|
|
NM_000719.7(CACNA1C):c.5978_5992del (p.Gly1993_Thr1998delinsAla)
|
rs2153866305
|
|
NM_000719.7(CACNA1C):c.5989G>T (p.Glu1997Ter)
|
rs1556309883
|
|
NM_000719.7(CACNA1C):c.5992A>G (p.Thr1998Ala)
|
rs1338604193
|
|
NM_000719.7(CACNA1C):c.5998_6006del (p.Pro2000_Gly2002del)
|
|
|
NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys)
|
|
|
NM_000719.7(CACNA1C):c.6013A>G (p.Ser2005Gly)
|
rs2153866835
|
|
NM_000719.7(CACNA1C):c.6018C>A (p.Ser2006Arg)
|
rs368817423
|
|
NM_000719.7(CACNA1C):c.6019GCC[3] (p.Ala2008_Arg2009insAla)
|
|
|
NM_000719.7(CACNA1C):c.6022G>C (p.Ala2008Pro)
|
|
|
NM_000719.7(CACNA1C):c.6025C>T (p.Arg2009Trp)
|
rs1358638533
|
|
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)
|
|
|
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile)
|
rs193922615
|
|
NM_000719.7(CACNA1C):c.6040G>T (p.Val2014Phe)
|
rs199473660
|
|
NM_000719.7(CACNA1C):c.6041T>C (p.Val2014Ala)
|
|
|
NM_000719.7(CACNA1C):c.6049A>C (p.Met2017Leu)
|
|
|
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del)
|
rs1569288182
|
|
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu)
|
rs377312264
|
|
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His)
|
rs767141738
|
|
NM_000719.7(CACNA1C):c.6087C>G (p.Phe2029Leu)
|
rs779215492
|
|
NM_000719.7(CACNA1C):c.6097G>A (p.Ala2033Thr)
|
|
|
NM_000719.7(CACNA1C):c.6100A>T (p.Ser2034Cys)
|
rs1454941343
|
|
NM_000719.7(CACNA1C):c.6102C>A (p.Ser2034Arg)
|
rs2153867804
|
|
NM_000719.7(CACNA1C):c.6104G>A (p.Ser2035Asn)
|
rs2097653623
|
|
NM_000719.7(CACNA1C):c.6114A>C (p.Glu2038Asp)
|
|
|
NM_000719.7(CACNA1C):c.6117+3A>G
|
|
|
NM_000719.7(CACNA1C):c.6117+5G>C
|
rs1603467251
|
|
NM_000719.7(CACNA1C):c.6117G>A (p.Ala2039=)
|
|
|
NM_000719.7(CACNA1C):c.6118-104_6118-10delinsC
|
|
|
NM_000719.7(CACNA1C):c.6118G>A (p.Val2040Ile)
|
|
|
NM_000719.7(CACNA1C):c.6122dup (p.Leu2041fs)
|
rs2153890970
|
|
NM_000719.7(CACNA1C):c.6123G>C (p.Leu2041Phe)
|
rs998497258
|
|
NM_000719.7(CACNA1C):c.6140G>A (p.Gly2047Glu)
|
rs1166663389
|
|
NM_000719.7(CACNA1C):c.6142C>G (p.Gln2048Glu)
|
|
|
NM_000719.7(CACNA1C):c.6154G>C (p.Asp2052His)
|
|
|
NM_000719.7(CACNA1C):c.6156T>G (p.Asp2052Glu)
|
|
|
NM_000719.7(CACNA1C):c.6158C>T (p.Pro2053Leu)
|
rs2097778560
|
|
NM_000719.7(CACNA1C):c.6161A>C (p.Lys2054Thr)
|
|
|
NM_000719.7(CACNA1C):c.617+1G>A
|
rs2154562886
|
|
NM_000719.7(CACNA1C):c.617+4A>C
|
|
|
NM_000719.7(CACNA1C):c.6172G>A (p.Val2058Ile)
|
|
|
NM_000719.7(CACNA1C):c.6172G>C (p.Val2058Leu)
|
|
|
NM_000719.7(CACNA1C):c.6185A>T (p.Glu2062Val)
|
rs2097779002
|
|
NM_000719.7(CACNA1C):c.619C>A (p.Leu207Ile)
|
|
|
NM_000719.7(CACNA1C):c.6200G>A (p.Cys2067Tyr)
|
|
|
NM_000719.7(CACNA1C):c.6202G>A (p.Asp2068Asn)
|
|
|
NM_000719.7(CACNA1C):c.6209C>T (p.Thr2070Ile)
|
rs1292503025
|
|
NM_000719.7(CACNA1C):c.620T>G (p.Leu207Arg)
|
rs2154564925
|
|
NM_000719.7(CACNA1C):c.6210del (p.Thr2070_Ile2071insTer)
|
|
|
NM_000719.7(CACNA1C):c.6213A>G (p.Ile2071Met)
|
|
|
NM_000719.7(CACNA1C):c.6219G>C (p.Glu2073Asp)
|
|
|
NM_000719.7(CACNA1C):c.6235_6237del (p.Asp2079del)
|
rs886049208
|
|
NM_000719.7(CACNA1C):c.6236A>G (p.Asp2079Gly)
|
|
|
NM_000719.7(CACNA1C):c.6243C>G (p.Ile2081Met)
|
|
|
NM_000719.7(CACNA1C):c.6244C>T (p.Leu2082Phe)
|
|
|
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg)
|
rs1060503444
|
|
NM_000719.7(CACNA1C):c.6251G>A (p.Gly2084Glu)
|
rs1381771539
|
|
NM_000719.7(CACNA1C):c.6256G>A (p.Ala2086Thr)
|
rs763324710
|
|
NM_000719.7(CACNA1C):c.6257C>G (p.Ala2086Gly)
|
|
|
NM_000719.7(CACNA1C):c.6260_6280del (p.Pro2087_Ala2093del)
|
rs1556333500
|
|
NM_000719.7(CACNA1C):c.6260dup (p.Gln2088fs)
|
|
|
NM_000719.7(CACNA1C):c.6262C>G (p.Gln2088Glu)
|
|
|
NM_000719.7(CACNA1C):c.6269C>A (p.Pro2090His)
|
|
|
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp)
|
rs1603473411
|
|
NM_000719.7(CACNA1C):c.6273T>G (p.Asn2091Lys)
|
|
|
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala)
|
rs755430543
|
|
NM_000719.7(CACNA1C):c.6278C>G (p.Ala2093Gly)
|
rs2097781354
|
|
NM_000719.7(CACNA1C):c.6280C>T (p.Leu2094Phe)
|
|
|
NM_000719.7(CACNA1C):c.6280del (p.Leu2094fs)
|
|
|
NM_000719.7(CACNA1C):c.62G>C (p.Gly21Ala)
|
rs868443106
|
|
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys)
|
rs2153891904
|
|
NM_000719.7(CACNA1C):c.6303G>T (p.Arg2101Ser)
|
|
|
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)
|
rs193922616
|
|
NM_000719.7(CACNA1C):c.6308C>T (p.Ala2103Val)
|
rs1402303798
|
|
NM_000719.7(CACNA1C):c.6312_6344del (p.Gln2105_Gly2115del)
|
rs2153891914
|
|
NM_000719.7(CACNA1C):c.6319C>T (p.Arg2107Ter)
|
|
|
NM_000719.7(CACNA1C):c.6320G>A (p.Arg2107Gln)
|
|
|
NM_000719.7(CACNA1C):c.6320G>T (p.Arg2107Leu)
|
rs552013761
|
|
NM_000719.7(CACNA1C):c.6323C>T (p.Ala2108Val)
|
rs1453140106
|
|
NM_000719.7(CACNA1C):c.6323_6337dup (p.Glu2112_Asp2113insAlaGlyGlyGluGlu)
|
|
|
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg)
|
|
|
NM_000719.7(CACNA1C):c.6326G>A (p.Gly2109Glu)
|
|
|
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser)
|
|
|
NM_000719.7(CACNA1C):c.6329G>C (p.Gly2110Ala)
|
|
|
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)
|
rs771708175
|
|
NM_000719.7(CACNA1C):c.6332_6333del (p.Glu2111fs)
|
rs2153892110
|
|
NM_000719.7(CACNA1C):c.6334G>C (p.Glu2112Gln)
|
rs1279028766
|
|
NM_000719.7(CACNA1C):c.6336G>C (p.Glu2112Asp)
|
rs1188477095
|
|
NM_000719.7(CACNA1C):c.6337G>A (p.Asp2113Asn)
|
|
|
NM_000719.7(CACNA1C):c.6338A>T (p.Asp2113Val)
|
|
|
NM_000719.7(CACNA1C):c.6341C>A (p.Ala2114Glu)
|
|
|
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp)
|
rs199694744
|
|
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His)
|
|
|
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr)
|
rs1470889027
|
|
NM_000719.7(CACNA1C):c.6356C>A (p.Ala2119Glu)
|
rs1174127261
|
|
NM_000719.7(CACNA1C):c.6356C>T (p.Ala2119Val)
|
|
|
NM_000719.7(CACNA1C):c.6359G>C (p.Arg2120Pro)
|
|
|
NM_000719.7(CACNA1C):c.6359G>T (p.Arg2120Leu)
|
|
|
NM_000719.7(CACNA1C):c.6361G>A (p.Gly2121Ser)
|
rs2097783379
|
|
NM_000719.7(CACNA1C):c.6364_6372del (p.Arg2122_Ser2124del)
|
rs760320817
|
|
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn)
|
rs886049210
|
|
NM_000719.7(CACNA1C):c.6373G>A (p.Glu2125Lys)
|
|
|
NM_000719.7(CACNA1C):c.6373G>C (p.Glu2125Gln)
|
|
|
NM_000719.7(CACNA1C):c.6382C>A (p.Leu2128Ile)
|
rs2097784040
|
|
NM_000719.7(CACNA1C):c.6382C>T (p.Leu2128Phe)
|
|
|
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly)
|
rs766262489
|
|
NM_000719.7(CACNA1C):c.6397G>T (p.Val2133Phe)
|
rs2097784466
|
|
NM_000719.7(CACNA1C):c.6403G>A (p.Val2135Ile)
|
rs758199539
|
|
NM_000719.7(CACNA1C):c.6403G>T (p.Val2135Phe)
|
rs758199539
|
|
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp)
|
|
|
NM_000719.7(CACNA1C):c.6407G>A (p.Ser2136Asn)
|
rs1556337119
|
|
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)
|
|
|
NM_000719.7(CACNA1C):c.661G>A (p.Ala221Thr)
|
|
|
NM_000719.7(CACNA1C):c.664A>G (p.Asn222Asp)
|
rs373085638
|
|
NM_000719.7(CACNA1C):c.664A>T (p.Asn222Tyr)
|
|
|
NM_000719.7(CACNA1C):c.673G>A (p.Gly225Arg)
|
|
|
NM_000719.7(CACNA1C):c.688G>A (p.Gly230Arg)
|
|
|
NM_000719.7(CACNA1C):c.694G>C (p.Asp232His)
|
rs376872233
|
|
NM_000719.7(CACNA1C):c.699del (p.Lys234fs)
|
rs2099444197
|
|
NM_000719.7(CACNA1C):c.713C>G (p.Ala238Gly)
|
|
|
NM_000719.7(CACNA1C):c.728G>A (p.Arg243His)
|
|
|
NM_000719.7(CACNA1C):c.728G>T (p.Arg243Leu)
|
|
|
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
|
|
|
NM_000719.7(CACNA1C):c.758-6C>T
|
|
|
NM_000719.7(CACNA1C):c.77C>T (p.Ala26Val)
|
rs1555192348
|
|
NM_000719.7(CACNA1C):c.7_9del (p.Asn3del)
|
|
|
NM_000719.7(CACNA1C):c.823G>C (p.Val275Leu)
|
|
|
NM_000719.7(CACNA1C):c.835A>G (p.Ile279Val)
|
rs1447529441
|
|
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr)
|
|
|
NM_000719.7(CACNA1C):c.847G>T (p.Ala283Ser)
|
|
|
NM_000719.7(CACNA1C):c.856G>A (p.Gly286Ser)
|
|
|
NM_000719.7(CACNA1C):c.857G>C (p.Gly286Ala)
|
|
|
NM_000719.7(CACNA1C):c.88A>G (p.Met30Val)
|
rs1367916633
|
|
NM_000719.7(CACNA1C):c.910A>G (p.Ile304Val)
|
rs1597763675
|
|
NM_000719.7(CACNA1C):c.917-1G>A
|
|
|
NM_000719.7(CACNA1C):c.919G>A (p.Val307Ile)
|
|
|
NM_000719.7(CACNA1C):c.922C>T (p.Pro308Ser)
|
|
|
NM_000719.7(CACNA1C):c.944C>T (p.Pro315Leu)
|
rs2154571830
|
|
NM_000719.7(CACNA1C):c.950C>A (p.Ala317Glu)
|
|
|
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val)
|
rs533892755
|
|
NM_000719.7(CACNA1C):c.95C>G (p.Ala32Gly)
|
|
|
NM_000719.7(CACNA1C):c.95C>T (p.Ala32Val)
|
|
|
NM_000719.7(CACNA1C):c.962G>A (p.Gly321Asp)
|
|
|
NM_000719.7(CACNA1C):c.970C>T (p.Arg324Trp)
|
rs2154571835
|
|
NM_000719.7(CACNA1C):c.971G>A (p.Arg324Gln)
|
rs2099740070
|
|
NM_000719.7(CACNA1C):c.973C>A (p.Gln325Lys)
|
rs1597984777
|
|
NM_000719.7(CACNA1C):c.975del (p.Gln325fs)
|
|
|
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)
|
rs786205744
|
|
NM_000719.7(CACNA1C):c.98A>C (p.Asn33Thr)
|
|
|
NM_000719.7(CACNA1C):c.991G>A (p.Val331Met)
|
rs2154571838
|
|
NM_001167623.2(CACNA1C):c.1136A>C (p.Glu379Ala)
|
|
|
NM_001167623.2(CACNA1C):c.1147G>T (p.Val383Leu)
|
|
|
NM_001167623.2(CACNA1C):c.1160G>C (p.Ser387Thr)
|
rs2154577329
|
|
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile)
|
rs202180580
|
|