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.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.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.4322C>T (p.Thr1441Met)
|
rs727503835
|
0.00014
|
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.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.3200C>T (p.Ala1067Val)
|
rs750998195
|
0.00007
|
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro)
|
rs542914369
|
0.00007
|
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)
|
rs199473392
|
0.00007
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile)
|
rs373124557
|
0.00006
|
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
|
rs745997744
|
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.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.4727-61G>A
|
rs761831470
|
0.00004
|
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)
|
rs531161884
|
0.00004
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
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.2813T>C (p.Ile938Thr)
|
rs377165829
|
0.00003
|
NM_000719.7(CACNA1C):c.3295G>A (p.Asp1099Asn)
|
rs771549676
|
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.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.5492C>T (p.Thr1831Met)
|
rs186015395
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)
|
rs373503739
|
0.00003
|
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser)
|
rs886049209
|
0.00003
|
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn)
|
rs786205746
|
0.00002
|
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)
|
rs545511851
|
0.00002
|
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr)
|
rs786205756
|
0.00002
|
NM_000719.7(CACNA1C):c.3156+6G>C
|
rs398123520
|
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.460G>A (p.Ala154Thr)
|
rs1064796583
|
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.5329C>T (p.Arg1777Cys)
|
rs775251529
|
0.00002
|
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser)
|
rs921032597
|
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.989C>T (p.Thr330Met)
|
rs377345545
|
0.00002
|
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.130C>G (p.Pro44Ala)
|
rs1057518456
|
0.00001
|
NM_000719.7(CACNA1C):c.1384C>G (p.Arg462Gly)
|
rs761430418
|
0.00001
|
NM_000719.7(CACNA1C):c.1435G>A (p.Val479Met)
|
rs752677964
|
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.1516T>G (p.Trp506Gly)
|
rs975289385
|
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.1864G>A (p.Val622Ile)
|
rs768270021
|
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.230G>T (p.Ser77Ile)
|
rs536377458
|
0.00001
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
NM_000719.7(CACNA1C):c.2390G>C (p.Gly797Ala)
|
rs1200916501
|
0.00001
|
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)
|
rs774002530
|
0.00001
|
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala)
|
rs1391136601
|
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.2975A>G (p.Asn992Ser)
|
rs1555878870
|
0.00001
|
NM_000719.7(CACNA1C):c.2T>C (p.Met1Thr)
|
rs761378545
|
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.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln)
|
rs368861681
|
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.3790G>A (p.Val1264Met)
|
rs760543068
|
0.00001
|
NM_000719.7(CACNA1C):c.37G>A (p.Glu13Lys)
|
rs754656999
|
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.4309C>T (p.Pro1437Ser)
|
rs398123522
|
0.00001
|
NM_000719.7(CACNA1C):c.4790G>C (p.Ser1597Thr)
|
rs1356292633
|
0.00001
|
NM_000719.7(CACNA1C):c.4927C>T (p.Pro1643Ser)
|
rs786205764
|
0.00001
|
NM_000719.7(CACNA1C):c.5044G>A (p.Ala1682Thr)
|
rs746554838
|
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.5202C>T (p.Gly1734=)
|
rs769124319
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_000719.7(CACNA1C):c.53C>T (p.Ser18Phe)
|
rs1216229121
|
0.00001
|
NM_000719.7(CACNA1C):c.5549A>C (p.Glu1850Ala)
|
rs375846068
|
0.00001
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00001
|
NM_000719.7(CACNA1C):c.6050T>C (p.Met2017Thr)
|
rs786205742
|
0.00001
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
NM_000719.7(CACNA1C):c.609G>A (p.Val203=)
|
rs1417477759
|
0.00001
|
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val)
|
rs1216146146
|
0.00001
|
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala)
|
rs972053240
|
0.00001
|
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)
|
rs750459136
|
0.00001
|
NM_000719.7(CACNA1C):c.91A>G (p.Asn31Asp)
|
rs531598856
|
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(chr12:2791716-2791844)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2794031-2844076)x3
|
|
|
GRCh37/hg19 12p13.33(chr12:2794331-2851075)x1
|
|
|
NM_000719.7(CACNA1C):c.-2C>T
|
|
|
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.1064C>T (p.Thr355Met)
|
rs538694667
|
|
NM_000719.7(CACNA1C):c.1102G>A (p.Val368Met)
|
|
|
NM_000719.7(CACNA1C):c.1118A>G (p.Asn373Ser)
|
|
|
NM_000719.7(CACNA1C):c.1138T>G (p.Trp380Gly)
|
rs2154577561
|
|
NM_000719.7(CACNA1C):c.1141C>T (p.Pro381Ser)
|
rs786205775
|
|
NM_000719.7(CACNA1C):c.1204G>C (p.Gly402Arg)
|
rs80315385
|
|
NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
|
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.1366A>C (p.Met456Leu)
|
rs746887726
|
|
NM_000719.7(CACNA1C):c.1372G>A (p.Glu458Lys)
|
|
|
NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala)
|
rs776242172
|
|
NM_000719.7(CACNA1C):c.1385G>A (p.Arg462Gln)
|
rs794727961
|
|
NM_000719.7(CACNA1C):c.1407T>G (p.Ser469Arg)
|
|
|
NM_000719.7(CACNA1C):c.1420G>T (p.Val474Phe)
|
rs765581751
|
|
NM_000719.7(CACNA1C):c.1481+621C>T
|
rs200329394
|
|
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser)
|
rs1555075958
|
|
NM_000719.7(CACNA1C):c.1532G>A (p.Arg511Gln)
|
rs786205747
|
|
NM_000719.7(CACNA1C):c.1630G>A (p.Glu544Lys)
|
|
|
NM_000719.7(CACNA1C):c.1672A>G (p.Thr558Ala)
|
rs2154593415
|
|
NM_000719.7(CACNA1C):c.1697T>C (p.Leu566Pro)
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|
|
NM_000719.7(CACNA1C):c.1753G>T (p.Val585Leu)
|
rs763738559
|
|
NM_000719.7(CACNA1C):c.175G>T (p.Ala59Ser)
|
rs786205766
|
|
NM_000719.7(CACNA1C):c.1841T>G (p.Leu614Arg)
|
rs1057518994
|
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NM_000719.7(CACNA1C):c.1917C>G (p.Asn639Lys)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1931T>G (p.Leu644Trp)
|
rs786205749
|
|
NM_000719.7(CACNA1C):c.1A>G (p.Met1Val)
|
rs931964122
|
|
NM_000719.7(CACNA1C):c.2024G>A (p.Gly675Glu)
|
rs2153223856
|
|
NM_000719.7(CACNA1C):c.2024G>C (p.Gly675Ala)
|
|
|
NM_000719.7(CACNA1C):c.2074T>A (p.Phe692Ile)
|
rs2060548431
|
|
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.2234T>C (p.Leu745Pro)
|
rs398123518
|
|
NM_000719.7(CACNA1C):c.2251A>G (p.Ile751Val)
|
rs794727167
|
|
NM_000719.7(CACNA1C):c.2269G>C (p.Ala757Pro)
|
rs560163331
|
|
NM_000719.7(CACNA1C):c.2296C>A (p.Gln766Lys)
|
|
|
NM_000719.7(CACNA1C):c.2302G>A (p.Glu768Lys)
|
rs2153229485
|
|
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del)
|
rs786205770
|
|
NM_000719.7(CACNA1C):c.239_244delinsTTGCAGCTCC (p.Gln80fs)
|
rs2154137096
|
|
NM_000719.7(CACNA1C):c.2404G>A (p.Glu802Lys)
|
rs1555835003
|
|
NM_000719.7(CACNA1C):c.242G>A (p.Arg81Gln)
|
rs786205767
|
|
NM_000719.7(CACNA1C):c.2467A>G (p.Met823Val)
|
rs786205752
|
|
NM_000719.7(CACNA1C):c.2530+1G>A
|
|
|
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.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.2584C>T (p.Leu862Phe)
|
rs2153339402
|
|
NM_000719.7(CACNA1C):c.2636C>T (p.Ala879Val)
|
rs1199713333
|
|
NM_000719.7(CACNA1C):c.2650A>C (p.Ser884Arg)
|
rs777391300
|
|
NM_000719.7(CACNA1C):c.2663+1G>A
|
rs2153339994
|
|
NM_000719.7(CACNA1C):c.2684G>A (p.Arg895His)
|
rs786205755
|
|
NM_000719.7(CACNA1C):c.2734C>A (p.Leu912Ile)
|
rs786205264
|
|
NM_000719.7(CACNA1C):c.2794-3C>T
|
|
|
NM_000719.7(CACNA1C):c.2825C>G (p.Thr942Ser)
|
|
|
NM_000719.7(CACNA1C):c.2827A>G (p.Ile943Val)
|
rs786205757
|
|
NM_000719.7(CACNA1C):c.2853+155G>A
|
|
|
NM_000719.7(CACNA1C):c.2854-11C>G
|
rs2153406175
|
|
NM_000719.7(CACNA1C):c.2935G>A (p.Val979Met)
|
rs1555874590
|
|
NM_000719.7(CACNA1C):c.3001C>T (p.Arg1001Ter)
|
rs1555879031
|
|
NM_000719.7(CACNA1C):c.3020G>C (p.Arg1007Thr)
|
|
|
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.3073G>A (p.Ala1025Thr)
|
|
|
NM_000719.7(CACNA1C):c.3106A>G (p.Thr1036Ala)
|
rs2153427070
|
|
NM_000719.7(CACNA1C):c.3265C>T (p.Arg1089Cys)
|
rs2075701336
|
|
NM_000719.7(CACNA1C):c.3357G>C (p.Glu1119Asp)
|
rs1555884341
|
|
NM_000719.7(CACNA1C):c.3373A>G (p.Ile1125Val)
|
rs727503834
|
|
NM_000719.7(CACNA1C):c.3376G>A (p.Asp1126Asn)
|
|
|
NM_000719.7(CACNA1C):c.3461C>T (p.Ala1154Val)
|
rs786205758
|
|
NM_000719.7(CACNA1C):c.3462C>A (p.Ala1154=)
|
|
|
NM_000719.7(CACNA1C):c.3483C>G (p.Phe1161Leu)
|
|
|
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.3577G>A (p.Ala1193Thr)
|
rs1251955384
|
|
NM_000719.7(CACNA1C):c.3606C>G (p.Tyr1202Ter)
|
rs895560697
|
|
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.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.3724G>A (p.Gly1242Ser)
|
rs1131691881
|
|
NM_000719.7(CACNA1C):c.3748G>T (p.Ala1250Ser)
|
rs373930708
|
|
NM_000719.7(CACNA1C):c.3751A>G (p.Met1251Val)
|
|
|
NM_000719.7(CACNA1C):c.3830A>G (p.His1277Arg)
|
|
|
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)
|
rs367895193
|
|
NM_000719.7(CACNA1C):c.3894A>G (p.Ile1298Met)
|
rs2153572525
|
|
NM_000719.7(CACNA1C):c.3929A>C (p.Gln1310Pro)
|
|
|
NM_000719.7(CACNA1C):c.3930A>T (p.Gln1310His)
|
rs369262825
|
|
NM_000719.7(CACNA1C):c.3946-21_3946-19del
|
|
|
NM_000719.7(CACNA1C):c.3946-44C>T
|
rs760982440
|
|
NM_000719.7(CACNA1C):c.3962C>T (p.Ser1321Phe)
|
rs779278894
|
|
NM_000719.7(CACNA1C):c.3977C>T (p.Thr1326Ile)
|
|
|
NM_000719.7(CACNA1C):c.3G>C (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.4025G>A (p.Arg1342His)
|
rs1365999989
|
|
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>T (p.Val1368Leu)
|
rs1234874360
|
|
NM_000719.7(CACNA1C):c.4216G>A (p.Val1406Met)
|
rs753204879
|
|
NM_000719.7(CACNA1C):c.4279C>G (p.Pro1427Ala)
|
rs2153706726
|
|
NM_000719.7(CACNA1C):c.4567C>T (p.Arg1523Trp)
|
|
|
NM_000719.7(CACNA1C):c.4657G>A (p.Asp1553Asn)
|
rs2153729186
|
|
NM_000719.7(CACNA1C):c.4727-6C>T
|
rs886042224
|
|
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
|
|
|
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val)
|
rs751224055
|
|
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn)
|
rs786205763
|
|
NM_000719.7(CACNA1C):c.481C>T (p.Arg161Ter)
|
rs1555599537
|
|
NM_000719.7(CACNA1C):c.4828+1G>A
|
rs2153757423
|
|
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.49+1G>A
|
rs2154502706
|
|
NM_000719.7(CACNA1C):c.4910_4912del (p.Gln1637_Gly1638delinsArg)
|
rs786205772
|
|
NM_000719.7(CACNA1C):c.4957-1G>A
|
|
|
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg)
|
rs778011390
|
|
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.5091+1G>A
|
rs2153791497
|
|
NM_000719.7(CACNA1C):c.5098G>C (p.Gly1700Arg)
|
rs761966966
|
|
NM_000719.7(CACNA1C):c.5116C>G (p.His1706Asp)
|
rs949737894
|
|
NM_000719.7(CACNA1C):c.5118C>G (p.His1706Gln)
|
|
|
NM_000719.7(CACNA1C):c.5128T>A (p.Tyr1710Asn)
|
|
|
NM_000719.7(CACNA1C):c.5147_5186dup (p.His1729fs)
|
rs1556099231
|
|
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.5201del (p.Gly1734fs)
|
rs1556105540
|
|
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=)
|
rs199538058
|
|
NM_000719.7(CACNA1C):c.5294C>T (p.Ala1765Val)
|
|
|
NM_000719.7(CACNA1C):c.5299A>G (p.Ile1767Val)
|
rs2153803721
|
|
NM_000719.7(CACNA1C):c.5350_5386del (p.Tyr1784fs)
|
rs2153803935
|
|
NM_000719.7(CACNA1C):c.536T>C (p.Ile179Thr)
|
rs1309430190
|
|
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro)
|
rs201918158
|
|
NM_000719.7(CACNA1C):c.5435G>A (p.Ser1812Asn)
|
rs1556123007
|
|
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.5476_5490dup (p.Glu1830_Thr1831insAlaGlyGlnGluGlu)
|
|
|
NM_000719.7(CACNA1C):c.5573+5G>C
|
rs786205768
|
|
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del)
|
rs757172314
|
|
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=)
|
rs537002656
|
|
NM_000719.7(CACNA1C):c.5728C>T (p.Arg1910Ter)
|
rs1556291640
|
|
NM_000719.7(CACNA1C):c.5938A>G (p.Ser1980Gly)
|
|
|
NM_000719.7(CACNA1C):c.5956A>G (p.Ser1986Gly)
|
rs2153866077
|
|
NM_000719.7(CACNA1C):c.6122dup (p.Leu2041fs)
|
rs2153890970
|
|
NM_000719.7(CACNA1C):c.617+1G>A
|
rs2154562886
|
|
NM_000719.7(CACNA1C):c.620T>G (p.Leu207Arg)
|
rs2154564925
|
|
NM_000719.7(CACNA1C):c.6271A>G (p.Asn2091Asp)
|
rs1603473411
|
|
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys)
|
rs2153891904
|
|
NM_000719.7(CACNA1C):c.6325G>A (p.Gly2109Arg)
|
|
|
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs)
|
rs771708175
|
|
NM_000719.7(CACNA1C):c.6359G>T (p.Arg2120Leu)
|
|
|
NM_000719.7(CACNA1C):c.688G>A (p.Gly230Arg)
|
|
|
NM_000719.7(CACNA1C):c.713C>G (p.Ala238Gly)
|
|
|
NM_000719.7(CACNA1C):c.728G>A (p.Arg243His)
|
|
|
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.944C>T (p.Pro315Leu)
|
rs2154571830
|
|
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val)
|
rs533892755
|
|
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser)
|
rs786205744
|
|
NM_001167623.2(CACNA1C):c.1160G>C (p.Ser387Thr)
|
rs2154577329
|
|
NM_001167623.2(CACNA1C):c.1165G>A (p.Val389Ile)
|
rs202180580
|
|