CACNA1C variants in ExAC

CACNA1C gene summary
CACNA1C variants in

The table below lists the CACNA1C variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 2794993 c.5665C>T p.R1889C missense 0.00748783●●●●●●
2. 2224449 c.109G>A p.G37R missense 0.00738486●●●●●●
3. 2788901 c.5383G>A p.G1795R missense 0.00573953●●●●●●
4. 2797746 c.5918G>A p.R1973Q missense 0.00359430●●●●●●
5. 2694651 c.2449C>T p.P817S missense 0.00353414●●●●●●
6. 2675758 c.1669+10G>A splice site 0.00203341●●●●●●
7. 2788878 c.5360C>T p.T1787M missense 0.00117476●●●●●●
8. 2714835 c.3049-10C>T splice site 0.00117427●●●●●●
9. 2760808 c.3948C>T p.N1316N splice site 0.00087760●●●●●●
10. 2659186 c.1468G>A p.G490R missense 0.00080929●●●●●●
11. 2788668 c.5150C>G p.A1717G missense 0.00080425●●●●●●
12. 2800220 c.6272A>G p.N2091S missense 0.00079443●●●●●●
13. 2788637 c.5119G>A p.V1707I missense 0.00067811●●●●●●
14. 2786253 c.4829-7G>A splice site 0.00063315●●●●●●
15. 2702390 c.2542_2544delGAG p.Glu848del inframe 0.00052557●●●●●●
16. 2595423 c.911T>C p.I304T missense 0.00050343●●●●●●
17. 2794967 c.5639G>A p.R1880Q missense 0.00048958●●●●●●
18. 2778090 c.4624-9C>T splice site 0.00047221●●●●●●
19. 2797868 c.6040G>A p.V2014I missense 0.00041418●●●●●●
20. 2676738 c.1673C>T p.T558M missense 0.00036630●●●●●●
21. 2788616 c.5098G>A p.G1700S missense 0.00029593●●●●●●
22. 2162763 c.35A>T p.E12V missense 0.00027975●●●●●●
23. 2788926 c.5408G>C p.R1803P missense 0.00027345●●●●●●
24. 2676848 c.1783G>A p.V595I missense 0.00025450●●●●●●
25. 2224416 c.76G>A p.A26T missense 0.00022264●●●●●●
26. 2743496 c.3862G>A p.A1288T missense 0.00021819●●●●●●
27. 2788962 c.5444G>C p.R1815T missense 0.00021017●●●●●●
28. 2694668 c.2460+6G>A splice site 0.00019161●●●●●●
29. 2788658 c.5140G>A p.G1714S missense 0.00018958●●●●●●
30. 2800109 c.6161A>G p.K2054R missense 0.00018806●●●●●●
31. 2786965 c.5023G>A p.A1675T missense 0.00018302●●●●●●
32. 2715820 c.3200C>T p.A1067V missense 0.00018221●●●●●●
33. 2773987 c.4233-4C>T splice site 0.00018162●●●●●●
34. 2613998 c.1114-10G>A splice site 0.00017024●●●●●●
35. 2224542 c.202G>A p.A68T missense 0.00015440●●●●●●
36. 2788667 c.5149G>A p.A1717T missense 0.00015339●●●●●●
37. 2788811 c.5293G>A p.A1765T missense 0.00015330●●●●●●
38. 2794972 c.5644T>C p.S1882P missense 0.00014938●●●●●●
39. 2795398 c.5747A>G p.Q1916R missense 0.00014905●●●●●●
40. 2622161 c.1390+11G>A splice site 0.00013772●●●●●●
41. 2791763 c.5492C>T p.T1831M missense 0.00013612●●●●●●
42. 2224552 c.212C>T p.A71V missense 0.00013370●●●●●●
43. 2797713 c.5885G>A p.R1962Q missense 0.00013334●●●●●●
44. 2602559 c.1113+7A>G splice site 0.00013240●●●●●●
45. 2705034 c.2664-6G>A splice site 0.00012480●●●●●●
46. 2787036 c.5091+3G>A splice site 0.00011627●●●●●●
47. 2800223 c.6275G>A p.G2092D missense 0.00011416●●●●●●
48. 2797839 c.6011G>T p.G2004V missense 0.00011329●●●●●●
49. 2676758 c.1693G>A p.A565T missense 0.00010781●●●●●●
50. 2675754 c.1669+6C>T splice site 0.00010756●●●●●●
51. 2800183 c.6235G>A p.D2079N missense 0.00010659●●●●●●
52. 2800292 c.6344G>C p.G2115A missense 0.00010163●●●●●●
53. 2797803 c.5975G>T p.C1992F missense 0.00010046●●●●●●
54. 2224441 c.101C>T p.A34V missense 0.00009465●●●●●●
55. 2788802 c.5284G>C p.G1762R missense 0.00009362●●●●●●
56. 2763070 c.4140+4G>A splice site 0.00009270●●●●●●
57. 2800336 c.6388G>A p.D2130N missense 0.00009205●●●●●●
58. 2675599 c.1520G>A p.R507H missense 0.00009061●●●●●●
59. 2797944 c.6116C>G p.A2039G missense 0.00008846●●●●●●
60. 2786374 c.4943C>T p.A1648V missense 0.00008687●●●●●●
61. 2786373 c.4942G>A p.A1648T missense 0.00008678●●●●●●
62. 2797883 c.6055C>G p.P2019A missense 0.00008463●●●●●●
63. 2795380 c.5729G>A p.R1910Q missense 0.00008280●●●●●●
64. 2795382 c.5731G>C p.G1911R missense 0.00008280●●●●●●
65. 2788628 c.5110G>A p.G1704S missense 0.00008274●●●●●●
66. 2788638 c.5120T>C p.V1707A missense 0.00008252●●●●●●
67. 2797887 c.6059G>A p.S2020N missense 0.00007629●●●●●●
68. 2786252 c.4829-8C>T splice site 0.00007466●●●●●●
69. 2795388 c.5737G>A p.D1913N missense 0.00007452●●●●●●
70. 2694564 c.2362C>G p.Q788E missense 0.00007086●●●●●●
71. 2717688 c.3368G>A p.R1123H missense 0.00006748●●●●●●
72. 2659195 c.1477C>A p.L493M missense 0.00006549●●●●●●
73. 2675756 c.1669+8G>A splice site 0.00006525●●●●●●
74. 2788605 c.5092-5T>C splice site 0.00006496●●●●●●
75. 2788847 c.5329C>T p.R1777C missense 0.00006183●●●●●●
76. 2676818 c.1753G>A p.V585M missense 0.00006104●●●●●●
77. 2224411 c.71G>A p.R24H missense 0.00006014●●●●●●
78. 2788925 c.5407C>T p.R1803W missense 0.00005982●●●●●●
79. 2797829 c.6001G>A p.G2001S missense 0.00005969●●●●●●
80. 2795015 c.5680+7G>A splice site 0.00005927●●●●●●
81. 2675634 c.1555G>A p.A519T missense 0.00005916●●●●●●
82. 2659138 c.1420G>T p.V474F missense 0.00005897●●●●●●
83. 2794927 c.5599C>T p.R1867W missense 0.00005814●●●●●●
84. 2721141 c.3790G>A p.V1264M missense 0.00005796●●●●●●
85. 2711016 c.2854-4G>A splice site 0.00005794●●●●●●
86. 2788922 c.5404A>G p.I1802V missense 0.00005737●●●●●●
87. 2797912 c.6084G>T p.Q2028H missense 0.00005523●●●●●●
88. 2788862 c.5344G>A p.A1782T missense 0.00005469●●●●●●
89. 2788856 c.5338C>T p.R1780C missense 0.00005386●●●●●●
90. 2788680 c.5162C>G p.T1721S missense 0.00005235●●●●●●
91. 2800055 c.6118-11C>T splice site 0.00005177●●●●●●
92. 2224421 c.81T>G p.H27Q missense 0.00005105●●●●●●
93. 2224422 c.82G>A p.A28T missense 0.00005082●●●●●●
94. 2716147 c.3210-3C>T splice site 0.00004995●●●●●●
95. 2666122 c.1487G>A p.R496Q missense 0.00004970●●●●●●
96. 2224431 c.91A>G p.N31D missense 0.00004760●●●●●●
97. 2791726 c.5455C>T p.R1819W missense 0.00004707●●●●●●
98. 2788905 c.5387C>T p.P1796L missense 0.00004700●●●●●●
99. 2791748 c.5477C>T p.A1826V missense 0.00004602●●●●●●
100. 2675602 c.1523G>A p.R508Q missense 0.00004459●●●●●●
101. 2788929 c.5411T>C p.V1804A missense 0.00004405●●●●●●
102. 2558244 c.580G>A p.G194S missense 0.00004365●●●●●●
103. 2675755 c.1669+7G>A splice site 0.00004337●●●●●●
104. 2788656 c.5138A>G p.D1713G missense 0.00004319●●●●●●
105. 2659153 c.1435G>A p.V479M missense 0.00004285●●●●●●
106. 2794999 c.5671G>C p.A1891P missense 0.00004177●●●●●●
107. 2595410 c.898A>G p.N300D missense 0.00004169●●●●●●
108. 2705033 c.2664-7C>T splice site 0.00004162●●●●●●
109. 2666121 c.1486C>T p.R496W missense 0.00004142●●●●●●
110. 2666120 c.1485C>A p.H495Q missense 0.00004142●●●●●●
111. 2795335 c.5684G>A p.R1895Q missense 0.00004140●●●●●●
112. 2162730 c.2T>C p.Met1? missense 0.00004127●●●●●●
113. 2788959 c.5441A>G p.N1814S missense 0.00004013●●●●●●
114. 2558206 c.542A>G p.Y181C missense 0.00003992●●●●●●
115. 2694601 c.2399_2401delAGG p.Glu801del inframe 0.00003983●●●●●●
116. 2694552 c.2350C>T p.P784S missense 0.00003971●●●●●●
117. 2783799 c.4819C>T p.P1607S missense 0.00003925●●●●●●
118. 2558146 c.482G>A p.R161Q missense 0.00003909●●●●●●
119. 2224390 c.50G>A p.G17D missense 0.00003854●●●●●●
120. 2675728 c.1649A>G p.N550S missense 0.00003790●●●●●●
121. 2162765 c.37G>A p.E13K missense 0.00003745●●●●●●
122. 2788716 c.5198C>T p.A1733V missense 0.00003722●●●●●●
123. 2783740 c.4760C>T p.A1587V missense 0.00003698●●●●●●
124. 2558285 c.617+4A>C splice site 0.00003660●●●●●●
125. 2800177 c.6229G>A p.A2077T missense 0.00003659●●●●●●
126. 2783759 c.4779G>A p.W1593X nonsense 0.00003548●●●●●●
127. 2614020 c.1126G>A p.V376I missense 0.00003529●●●●●●
128. 2558279 c.615G>T splice site 0.00003528●●●●●●
129. 2224400 c.60T>G p.Y20X nonsense 0.00003485●●●●●●
130. 2788773 c.5255C>T p.T1752I missense 0.00003437●●●●●●
131. 2797824 c.5996C>T p.T1999I missense 0.00003393●●●●●●
132. 2762997 c.4075-4C>A splice site 0.00003390●●●●●●
133. 2659115 c.1397T>C p.M466T missense 0.00003384●●●●●●
134. 2705040 c.2664G>A splice site 0.00003323●●●●●●
135. 2787007 c.5065G>A p.A1689T missense 0.00003318●●●●●●
136. 2602398 c.959C>T p.T320M missense 0.00003315●●●●●●
137. 2595377 c.865C>A p.L289I missense 0.00003315●●●●●●
138. 2795368 c.5717G>A p.R1906Q missense 0.00003312●●●●●●
139. 2224405 c.65G>T p.S22I missense 0.00003309●●●●●●
140. 2717674 c.3357-3C>T splice site 0.00003305●●●●●●
141. 2717706 c.3386C>T p.T1129M missense 0.00003285●●●●●●
142. 2692072 c.2188T>A p.C730S missense 0.00003269●●●●●●
143. 2659124 c.1406G>A p.S469N missense 0.00003190●●●●●●
144. 2695076 c.2530+6A>G splice site 0.00003139●●●●●●
145. 2743472 c.3838T>C p.C1280R missense 0.00003121●●●●●●
146. 2224410 c.70C>T p.R24C missense 0.00003075●●●●●●
147. 2694639 c.2437G>A p.G813R missense 0.00003074●●●●●●
148. 2558176 c.512C>T p.T171M missense 0.00003069●●●●●●
149. 2595265 c.758-5C>T splice site 0.00002997●●●●●●
150. 2800215 c.6267C>A p.S2089R missense 0.00002990●●●●●●
151. 2659138 c.1420G>A p.V474I missense 0.00002949●●●●●●
152. 2224576 c.236C>T p.T79M missense 0.00002879●●●●●●
153. 2676736 c.1671C>T splice site 0.00002871●●●●●●
154. 2791727 c.5456G>A p.R1819Q missense 0.00002814●●●●●●
155. 2800341 c.6393C>A p.S2131R missense 0.00002785●●●●●●
156. 2676929 c.1864G>A p.V622I missense 0.00002776●●●●●●
157. 2690799 c.1939T>G p.S647A missense 0.00002756●●●●●●
158. 2743496 c.3862G>T p.A1288S missense 0.00002727●●●●●●
159. 2800097 c.6149C>T p.A2050V missense 0.00002663●●●●●●
160. 2788838 c.5320G>A p.A1774T missense 0.00002607●●●●●●
161. 2800099 c.6151C>A p.Q2051K missense 0.00002602●●●●●●
162. 2786926 c.4984G>A p.G1662R missense 0.00002602●●●●●●
163. 2702398 c.2550G>C p.E850D missense 0.00002580●●●●●●
164. 2694598 c.2396C>A p.S799Y missense 0.00002554●●●●●●
165. 2797821 c.5993C>A p.T1998N missense 0.00002534●●●●●●
166. 2797815 c.5987C>T p.A1996V missense 0.00002522●●●●●●
167. 2797639 c.5811_5813delCCT p.Leu1939del inframe 0.00002521●●●●●●
168. 2788662 c.5144G>A p.R1715Q missense 0.00002513●●●●●●
169. 2595413 c.901C>G p.Q301E missense 0.00002504●●●●●●
170. 2794928 c.5600G>A p.R1867Q missense 0.00002491●●●●●●
171. 2716164 c.3224C>T p.T1075M missense 0.00002491●●●●●●
172. 2794976 c.5648C>T p.P1883L missense 0.00002491●●●●●●
173. 2786995 c.5053G>A p.E1685K missense 0.00002489●●●●●●
174. 2788935 c.5417A>T p.E1806V missense 0.00002488●●●●●●
175. 2705071 c.2695G>A p.D899N missense 0.00002486●●●●●●
176. 2602428 c.989C>T p.T330M missense 0.00002482●●●●●●
177. 2719827 c.3679G>A p.V1227I missense 0.00002479●●●●●●
178. 2675590 c.1511G>A p.R504H missense 0.00002419●●●●●●
179. 2224429 c.89T>C p.M30T missense 0.00002408●●●●●●
180. 2224447 c.107C>T p.A36V missense 0.00002330●●●●●●
181. 2788668 c.5150C>T p.A1717V missense 0.00002298●●●●●●
182. 2800117 c.6169G>A p.E2057K missense 0.00002251●●●●●●
183. 2675601 c.1522C>T p.R508W missense 0.00002244●●●●●●
184. 2224509 c.169G>A p.D57N missense 0.00002071●●●●●●
185. 2224477 c.137C>T p.P46L missense 0.00002058●●●●●●
186. 2224474 c.134C>G p.T45S missense 0.00002057●●●●●●
187. 2797862 c.6034C>T p.R2012W missense 0.00001990●●●●●●
188. 2595266 c.758-4G>A splice site 0.00001984●●●●●●
189. 2694536 c.2340-6G>C splice site 0.00001966●●●●●●
190. 2675637 c.1558G>A p.A520T missense 0.00001964●●●●●●
191. 2800272 c.6324_6325insG p.Glu2111ArgfsTer15 frameshift 0.00001956●●●●●●
192. 2791706 c.5445-10G>A splice site 0.00001954●●●●●●
193. 2675661 c.1582T>C p.W528R missense 0.00001953●●●●●●
194. 2162785 c.49+8T>C splice site 0.00001946●●●●●●
195. 2800151 c.6203A>C p.D2068A missense 0.00001935●●●●●●
196. 2162782 c.49+5G>A splice site 0.00001925●●●●●●
197. 2162779 c.49+2_49+3insA splice site 0.00001912●●●●●●
198. 2675729 c.1650C>A p.N550K missense 0.00001895●●●●●●
199. 2797857 c.6029G>T p.R2010I missense 0.00001888●●●●●●
200. 2558238 c.574C>T p.R192C missense 0.00001887●●●●●●
201. 2676768 c.1703C>T p.T568M missense 0.00001887●●●●●●
202. 2162748 c.20G>A p.R7K missense 0.00001883●●●●●●
203. 2800160 c.6212T>C p.I2071T missense 0.00001881●●●●●●
204. 2675719 c.1640A>G p.N547S missense 0.00001876●●●●●●
205. 2797854 c.6026G>A p.R2009Q missense 0.00001869●●●●●●
206. 2224581 c.241C>T p.R81W missense 0.00001868●●●●●●
207. 2614109 c.1215C>T splice site 0.00001864●●●●●●
208. 2791731 c.5460G>C p.E1820D missense 0.00001857●●●●●●
209. 2800172 c.6224A>C p.E2075A missense 0.00001845●●●●●●
210. 2797912 c.6084G>C p.Q2028H missense 0.00001841●●●●●●
211. 2800176 c.6228C>A p.S2076R missense 0.00001839●●●●●●
212. 2764309 c.4141-4C>T splice site 0.00001839●●●●●●
213. 2690971 c.2103+8C>T splice site 0.00001822●●●●●●
214. 2788857 c.5339G>A p.R1780H missense 0.00001804●●●●●●
215. 2788644 c.5126A>G p.Y1709C missense 0.00001802●●●●●●
216. 2760941 c.4074+7G>A splice site 0.00001801●●●●●●
217. 2786392 c.4956+5G>C splice site 0.00001768●●●●●●
218. 2788917 c.5399C>T p.P1800L missense 0.00001763●●●●●●
219. 2676888 c.1823C>A p.T608N missense 0.00001747●●●●●●
220. 2676893 c.1828A>G p.I610V missense 0.00001747●●●●●●
221. 2788754 c.5236G>A p.E1746K missense 0.00001745●●●●●●
222. 2715769 c.3157-8C>A splice site 0.00001744●●●●●●
223. 2614074 c.1180T>C p.F394L missense 0.00001735●●●●●●
224. 2715770 c.3157-7C>T splice site 0.00001724●●●●●●
225. 2702414 c.2566G>A p.G856S missense 0.00001713●●●●●●
226. 2702427 c.2579G>A p.R860Q missense 0.00001710●●●●●●
227. 2659200 c.1481+1G>A essential splice site 0.00001701●●●●●●
228. 2716235 c.3295G>A p.D1099N missense 0.00001694●●●●●●
229. 2797609 c.5785-4G>A splice site 0.00001680●●●●●●
230. 2797643 c.5815C>G p.L1939V missense 0.00001679●●●●●●
231. 2794904 c.5576T>C p.L1859P missense 0.00001668●●●●●●
232. 2797767 c.5939G>A p.S1980N missense 0.00001665●●●●●●
233. 2693752 c.2308G>A p.E770K missense 0.00001663●●●●●●
234. 2794915 c.5587G>A p.D1863N missense 0.00001663●●●●●●
235. 2714242 c.2961-5C>T splice site 0.00001661●●●●●●
236. 2721099 c.3748G>A p.A1250T missense 0.00001660●●●●●●
237. 2716175 c.3235G>A p.G1079R missense 0.00001660●●●●●●
238. 2794960 c.5632G>A p.D1878N missense 0.00001659●●●●●●
239. 2706426 c.2824A>G p.T942A missense 0.00001658●●●●●●
240. 2706415 c.2813T>C p.I938T missense 0.00001658●●●●●●
241. 2719762 c.3614A>G p.K1205R missense 0.00001657●●●●●●
242. 2778091 c.4624-8G>A splice site 0.00001657●●●●●●
243. 2229582 c.463A>G p.T155A missense 0.00001656●●●●●●
244. 2229538 c.419C>T p.A140V missense 0.00001656●●●●●●
245. 2760809 c.3949G>A p.A1317T missense 0.00001656●●●●●●
246. 2714875 c.3079C>T p.R1027W missense 0.00001648●●●●●●
247. 2800202 c.6254G>A p.G2085D missense 0.00001647●●●●●●
248. 2788907 c.5389C>G p.P1797A missense 0.00001589●●●●●●
249. 2694617 c.2415G>T p.E805D missense 0.00001570●●●●●●
250. 2788904 c.5386C>A p.P1796T missense 0.00001568●●●●●●
251. 2659132 c.1414G>A p.E472K missense 0.00001530●●●●●●
252. 2558223 c.559C>T p.P187S missense 0.00001530●●●●●●
253. 2659178 c.1460A>C p.E487A missense 0.00001493●●●●●●
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509. 2714869 c.3073G>A p.A1025T missense 0.00000824●●●●●●
510. 2714923 c.3127T>C p.F1043L missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.