CACNA2D1 variants in ExAC

CACNA2D1 gene summary
CACNA2D1 variants in

The table below lists the CACNA2D1 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. 81695846 c.659-6_659-3delTTTTinsTTT splice site 0.32911007●●●●●●
2. 0 c.178-12dupT splice site 0.20891829●●●●●●
3. 81765998 c.355-6_355-5insT splice site 0.14931279●●●●●●
4. 81603872 c.1956-4[3]T splice site 0.10626034●●●●●●
5. 81579833 c.3160-9dupT splice site 0.09444557●●●●●●
6. 81695846 c.659-6_659-5delTT splice site 0.07461777●●●●●●
7. 81695847 c.659-7_659-6insT splice site 0.04142048●●●●●●
8. 81765997 c.355-5delT splice site 0.03126302●●●●●●
9. 81695846 c.659-6_659-4delTTT splice site 0.01166474●●●●●●
10. 81765998 c.355-6_355-5insTT splice site 0.00937110●●●●●●
11. 81603872 c.1956-4dupT splice site 0.00399686●●●●●●
12. 81695847 c.659-7_659-6insTT splice site 0.00319790●●●●●●
13. 81588616 c.3134A>C p.D1045A missense 0.00280536●●●●●●
14. 81601108 c.2126G>A p.S709N missense 0.00268951●●●●●●
15. 81695846 c.659-6_659-3delTTTT splice site 0.00149236●●●●●●
16. 81603872 c.1956-4[4]T splice site 0.00133229●●●●●●
17. 81603872 c.1956-4delT splice site 0.00123412●●●●●●
18. 81596485 c.2502C>T p.D834D splice site 0.00115996●●●●●●
19. 81599241 c.2264G>C p.S755T missense 0.00077414●●●●●●
20. 81591346 c.2837-7A>G splice site 0.00057980●●●●●●
21. 81746495 c.397-6A>G splice site 0.00040525●●●●●●
22. 82072762 c.14G>C p.C5S missense 0.00039095●●●●●●
23. 81593515 c.2727+8delA splice site 0.00038083●●●●●●
24. 81601175 c.2059G>A p.A687T missense 0.00034802●●●●●●
25. 81598298 c.2309-9T>A splice site 0.00033507●●●●●●
26. 81714151 c.592G>A p.E198K missense 0.00027203●●●●●●
27. 82072719 c.57C>G p.I19M missense 0.00026402●●●●●●
28. 81593384 c.2768C>G p.T923S missense 0.00021182●●●●●●
29. 81596978 c.2397T>A p.V799V splice site 0.00020779●●●●●●
30. 81620570 c.1735-8delC splice site 0.00019091●●●●●●
31. 81637030 c.1405A>G p.I469V missense 0.00018725●●●●●●
32. 81765996 c.355-4G>T splice site 0.00018222●●●●●●
33. 81620568 c.1735-6T>C splice site 0.00017431●●●●●●
34. 81643713 c.1222+4A>T splice site 0.00014531●●●●●●
35. 81579719 c.3265C>T p.R1089C missense 0.00014043●●●●●●
36. 81593401 c.2751A>T p.Q917H missense 0.00012617●●●●●●
37. 81635161 c.1441-6T>C splice site 0.00012390●●●●●●
38. 81689851 c.780-8A>G splice site 0.00011683●●●●●●
39. 81593422 c.2730A>T p.P910P splice site 0.00008379●●●●●●
40. 81714215 c.528A>C p.S176S splice site 0.00008354●●●●●●
41. 81662210 c.1046T>C p.V349A missense 0.00007541●●●●●●
42. 81662190 c.1066A>G p.K356E missense 0.00007507●●●●●●
43. 81601174 c.2060C>T p.A687V missense 0.00007456●●●●●●
44. 81598265 c.2333C>T p.S778L missense 0.00005826●●●●●●
45. 81579766 c.3218T>C p.I1073T missense 0.00005811●●●●●●
46. 81591315 c.2861C>T p.T954M missense 0.00005791●●●●●●
47. 81635088 c.1508G>A p.R503H missense 0.00005785●●●●●●
48. 81746451 c.435A>G p.I145M missense 0.00005780●●●●●●
49. 82072708 c.68C>T p.S23L missense 0.00005369●●●●●●
50. 81603848 c.1976A>C p.K659T missense 0.00005337●●●●●●
51. 81662120 c.1136A>C p.D379A missense 0.00005281●●●●●●
52. 81695822 c.677A>G p.N226S missense 0.00005041●●●●●●
53. 81964567 c.178A>G p.I60V missense 0.00004958●●●●●●
54. 81635089 c.1507C>T p.R503C missense 0.00004958●●●●●●
55. 81662115 c.1141A>G p.K381E missense 0.00004574●●●●●●
56. 81589052 c.3060A>G p.I1020M missense 0.00004250●●●●●●
57. 81589096 c.3016G>A p.V1006I missense 0.00004184●●●●●●
58. 81591349 c.2837-10G>A splice site 0.00004144●●●●●●
59. 81593514 c.2727+9T>C splice site 0.00004139●●●●●●
60. 81611940 c.1898C>T p.S633L missense 0.00004131●●●●●●
61. 81964518 c.227G>A p.R76H missense 0.00004120●●●●●●
62. 81695839 c.660T>C splice site 0.00004112●●●●●●
63. 82072714 c.62C>T p.P21L missense 0.00003544●●●●●●
64. 81593684 c.2575-9C>G splice site 0.00003478●●●●●●
65. 81589047 c.3065C>T p.A1022V missense 0.00003431●●●●●●
66. 81579785 c.3199C>G p.P1067A missense 0.00003353●●●●●●
67. 81598274 c.2324C>A p.A775D missense 0.00003334●●●●●●
68. 81624233 c.1685G>C p.G562A missense 0.00003334●●●●●●
69. 81714211 c.532A>G p.I178V missense 0.00003331●●●●●●
70. 81591258 c.2918A>T p.N973I missense 0.00003312●●●●●●
71. 81593567 c.2683G>A p.G895S missense 0.00003308●●●●●●
72. 81579730 c.3254G>A p.G1085D missense 0.00003306●●●●●●
73. 81600036 c.2159G>A p.R720Q missense 0.00003306●●●●●●
74. 81579718 c.3266G>A p.R1089H missense 0.00003305●●●●●●
75. 81667534 c.897G>C p.Q299H missense 0.00003301●●●●●●
76. 81714153 c.590G>A p.R197H missense 0.00003298●●●●●●
77. 81667384 c.1038+9C>T splice site 0.00003298●●●●●●
78. 81714113 c.630T>G p.S210R missense 0.00003296●●●●●●
79. 81603833 c.1991A>G p.N664S missense 0.00003118●●●●●●
80. 81613993 c.1831T>C p.Y611H missense 0.00003032●●●●●●
81. 81613990 c.1834A>G p.I612V missense 0.00003010●●●●●●
82. 81613969 c.1855A>T p.T619S missense 0.00002973●●●●●●
83. 81613970 c.1854G>T p.E618D missense 0.00002967●●●●●●
84. 81591807 c.2785A>G p.I929V missense 0.00002875●●●●●●
85. 82072687 c.89C>T p.A30V missense 0.00002814●●●●●●
86. 81603872 c.1956-4[5]T splice site 0.00002805●●●●●●
87. 81589148 c.2967-3C>A splice site 0.00002782●●●●●●
88. 81591801 c.2791C>G p.Q931E missense 0.00002678●●●●●●
89. 81589062 c.3050G>A p.R1017Q missense 0.00002528●●●●●●
90. 81601086 c.2141+7A>G splice site 0.00002515●●●●●●
91. 81596527 c.2464-4T>G splice site 0.00002512●●●●●●
92. 81599230 c.2275G>A p.D759N missense 0.00002501●●●●●●
93. 81620493 c.1796+8A>C splice site 0.00002490●●●●●●
94. 81591262 c.2914G>A p.D972N missense 0.00002484●●●●●●
95. 81579746 c.3238C>T p.L1080F missense 0.00002482●●●●●●
96. 81594907 c.2574+3A>C splice site 0.00002481●●●●●●
97. 81591310 c.2866T>C p.S956P missense 0.00002481●●●●●●
98. 81593564 c.2686G>A p.A896T missense 0.00002480●●●●●●
99. 81641532 c.1300A>G p.M434V missense 0.00002474●●●●●●
100. 81978969 c.96-4G>A splice site 0.00002473●●●●●●
101. 81714154 c.589C>T p.R197C missense 0.00002473●●●●●●
102. 81626509 c.1648G>T p.D550Y missense 0.00002471●●●●●●
103. 81634816 c.1516-3C>A splice site 0.00002351●●●●●●
104. 81603831 c.1993A>G p.T665A missense 0.00002070●●●●●●
105. 81603807 c.2017G>A p.E673K missense 0.00002051●●●●●●
106. 81634732 c.1590+7A>G splice site 0.00002033●●●●●●
107. 81591821 c.2781-10A>T splice site 0.00001945●●●●●●
108. 81596925 c.2450C>T p.S817L missense 0.00001835●●●●●●
109. 81603872 c.1956-4T>C splice site 0.00001801●●●●●●
110. 82072725 c.51G>C p.L17F missense 0.00001749●●●●●●
111. 81765990 c.357C>A p.S119R missense 0.00001742●●●●●●
112. 81765986 c.361G>T p.Glu121Ter nonsense 0.00001722●●●●●●
113. 81765988 c.359A>G p.N120S missense 0.00001709●●●●●●
114. 81637060 c.1375G>C p.V459L missense 0.00001694●●●●●●
115. 81714222 c.527-6dupT splice site 0.00001684●●●●●●
116. 81601086 c.2141+7A>T splice site 0.00001677●●●●●●
117. 81695807 c.692A>G p.N231S missense 0.00001674●●●●●●
118. 81579774 c.3210G>T p.W1070C missense 0.00001666●●●●●●
119. 81599283 c.2222A>C p.Q741P missense 0.00001665●●●●●●
120. 81599250 c.2255A>G p.Y752C missense 0.00001664●●●●●●
121. 81765980 c.367G>A p.V123I missense 0.00001662●●●●●●
122. 81588583 c.3159+8C>A splice site 0.00001660●●●●●●
123. 81620562 c.1735A>C splice site 0.00001657●●●●●●
124. 81601157 c.2077G>A p.V693I missense 0.00001656●●●●●●
125. 81635074 c.1515+7T>C splice site 0.00001656●●●●●●
126. 81591319 c.2857T>C p.F953L missense 0.00001655●●●●●●
127. 81591289 c.2887A>G p.I963V missense 0.00001655●●●●●●
128. 81591325 c.2851G>A p.D951N missense 0.00001655●●●●●●
129. 81600053 c.2142C>G p.I714M missense 0.00001653●●●●●●
130. 81593540 c.2710C>T p.H904Y missense 0.00001653●●●●●●
131. 81635091 c.1505C>T p.P502L missense 0.00001652●●●●●●
132. 81579710 c.3274T>C p.Ter1092ArgextTer25 nonsense 0.00001652●●●●●●
133. 81611893 c.1945A>G p.I649V missense 0.00001651●●●●●●
134. 81611914 c.1924G>C p.E642Q missense 0.00001651●●●●●●
135. 81964524 c.221A>C p.N74T missense 0.00001648●●●●●●
136. 81714096 c.647G>A p.R216Q missense 0.00001648●●●●●●
137. 81964527 c.218A>G p.N73S missense 0.00001648●●●●●●
138. 81667454 c.977C>T p.T326I missense 0.00001648●●●●●●
139. 81626492 c.1662+3G>A splice site 0.00001648●●●●●●
140. 81626499 c.1658T>A p.V553E missense 0.00001648●●●●●●
141. 81978888 c.173T>C p.V58A missense 0.00001648●●●●●●
142. 81626508 c.1649A>T p.D550V missense 0.00001648●●●●●●
143. 81634804 c.1525A>C p.N509H missense 0.00001504●●●●●●
144. 81634800 c.1529G>A p.G510E missense 0.00001477●●●●●●
145. 81591804 c.2788C>A p.L930I missense 0.00001445●●●●●●
146. 81591806 c.2786T>C p.I929T missense 0.00001435●●●●●●
147. 81591792 c.2800C>T p.L934F missense 0.00001257●●●●●●
148. 81591757 c.2835A>G splice site 0.00001154●●●●●●
149. 81603857 c.1967A>G p.N656S missense 0.00001097●●●●●●
150. 81603842 c.1982C>A p.S661X nonsense 0.00001058●●●●●●
151. 81603834 c.1990A>G p.N664D missense 0.00001048●●●●●●
152. 81603831 c.1993A>C p.T665P missense 0.00001035●●●●●●
153. 81579831 c.3160-7dupA splice site 0.00001020●●●●●●
154. 81637002 c.1433A>G p.N478S missense 0.00001018●●●●●●
155. 82072685 c.91G>A p.V31I missense 0.00000947●●●●●●
156. 81598292 c.2309-3T>C splice site 0.00000944●●●●●●
157. 81612656 c.1874-6T>C splice site 0.00000918●●●●●●
158. 81589144 c.2968A>G p.I990V missense 0.00000914●●●●●●
159. 81612631 c.1893G>C p.K631N missense 0.00000894●●●●●●
160. 82072760 c.16C>G p.L6V missense 0.00000885●●●●●●
161. 82072718 c.58G>A p.G20S missense 0.00000881●●●●●●
162. 82072733 c.43C>T p.Q15X nonsense 0.00000872●●●●●●
163. 81662123 c.1133A>C p.K378T missense 0.00000866●●●●●●
164. 81695830 c.669G>T p.W223C missense 0.00000863●●●●●●
165. 81596475 c.2502+10C>A splice site 0.00000858●●●●●●
166. 81589047 c.3065C>A p.A1022E missense 0.00000858●●●●●●
167. 81695828 c.671T>A p.V224D missense 0.00000856●●●●●●
168. 81593375 c.2777C>T p.A926V missense 0.00000855●●●●●●
169. 81593376 c.2776G>A p.A926T missense 0.00000854●●●●●●
170. 81593376 c.2776G>T p.A926S missense 0.00000854●●●●●●
171. 81598296 c.2309-7T>G splice site 0.00000854●●●●●●
172. 81599198 c.2307C>G p.N769K missense 0.00000848●●●●●●
173. 81637041 c.1394C>G p.P465R missense 0.00000846●●●●●●
174. 81637042 c.1393C>A p.P465T missense 0.00000845●●●●●●
175. 81714222 c.527-6T>G splice site 0.00000844●●●●●●
176. 81662134 c.1122C>G p.N374K missense 0.00000844●●●●●●
177. 81693674 c.729-4T>C splice site 0.00000844●●●●●●
178. 81662135 c.1121A>G p.N374S missense 0.00000843●●●●●●
179. 81599205 c.2300A>G p.Y767C missense 0.00000842●●●●●●
180. 81662217 c.1039T>C p.Y347H missense 0.00000841●●●●●●
181. 81693666 c.733A>G p.I245V missense 0.00000840●●●●●●
182. 81624252 c.1666C>T p.R556X nonsense 0.00000839●●●●●●
183. 81598280 c.2318C>T p.P773L missense 0.00000838●●●●●●
184. 81662144 c.1112A>C p.E371A missense 0.00000838●●●●●●
185. 81579785 c.3199C>T p.P1067S missense 0.00000838●●●●●●
186. 81593422 c.2730A>G splice site 0.00000838●●●●●●
187. 81599305 c.2205-5C>A splice site 0.00000837●●●●●●
188. 81662208 c.1048T>G p.S350A missense 0.00000837●●●●●●
189. 81598278 c.2320G>A p.G774S missense 0.00000836●●●●●●
190. 81641562 c.1273-3C>A splice site 0.00000836●●●●●●
191. 81598278 c.2320G>T p.G774C missense 0.00000836●●●●●●
192. 81579781 c.3203C>T p.S1068F missense 0.00000836●●●●●●
193. 81599221 c.2284G>C p.V762L missense 0.00000835●●●●●●
194. 81598277 c.2321G>A p.G774D missense 0.00000835●●●●●●
195. 81695780 c.719G>T p.R240I missense 0.00000835●●●●●●
196. 81601093 c.2141T>A p.I714N missense 0.00000834●●●●●●
197. 81579775 c.3209G>T p.W1070L missense 0.00000834●●●●●●
198. 81662162 c.1094_1096delGAG p.G365_E366delinsE inframe 0.00000834●●●●●●
199. 81624203 c.1715T>C p.L572P missense 0.00000834●●●●●●
200. 81598197 c.2395+6G>A splice site 0.00000833●●●●●●
201. 81624228 c.1690A>G p.S564G missense 0.00000833●●●●●●
202. 81593639 c.2611A>T p.M871L missense 0.00000833●●●●●●
203. 81599292 c.2213A>G p.E738G missense 0.00000833●●●●●●
204. 81598197 c.2395+6G>T splice site 0.00000833●●●●●●
205. 81598271 c.2327A>G p.Y776C missense 0.00000833●●●●●●
206. 81624217 c.1701A>C p.K567N missense 0.00000832●●●●●●
207. 81599268 c.2237C>T p.T746I missense 0.00000832●●●●●●
208. 81598209 c.2389C>T p.P797S missense 0.00000832●●●●●●
209. 81598257 c.2341A>G p.M781V missense 0.00000831●●●●●●
210. 81598242 c.2356G>A p.V786I missense 0.00000830●●●●●●
211. 81593626 c.2624T>C p.V875A missense 0.00000830●●●●●●
212. 81689751 c.872T>C p.V291A missense 0.00000830●●●●●●
213. 81588672 c.3078T>C splice site 0.00000830●●●●●●
214. 81588671 c.3079G>A p.D1027N missense 0.00000830●●●●●●
215. 81588583 c.3159+8C>T splice site 0.00000830●●●●●●
216. 81643761 c.1178A>G p.N393S missense 0.00000829●●●●●●
217. 81620559 c.1738T>C p.Y580H missense 0.00000829●●●●●●
218. 81689758 c.865G>A p.V289M missense 0.00000829●●●●●●
219. 81689805 c.818G>A p.R273Q missense 0.00000829●●●●●●
220. 81746476 c.410A>G p.D137G missense 0.00000829●●●●●●
221. 81601176 c.2058C>A p.N686K missense 0.00000829●●●●●●
222. 81620498 c.1796+3A>G splice site 0.00000829●●●●●●
223. 81593605 c.2645T>C p.F882S missense 0.00000829●●●●●●
224. 81579749 c.3235C>G p.L1079V missense 0.00000828●●●●●●
225. 81601151 c.2083C>G p.L695V missense 0.00000828●●●●●●
226. 81593515 c.2727+8A>T splice site 0.00000828●●●●●●
227. 81601156 c.2078T>C p.V693A missense 0.00000828●●●●●●
228. 81591256 c.2920G>T p.D974Y missense 0.00000828●●●●●●
229. 81588649 c.3101T>C p.M1034T missense 0.00000828●●●●●●
230. 81591333 c.2843T>C p.M948T missense 0.00000828●●●●●●
231. 81601131 c.2103T>A p.N701K missense 0.00000828●●●●●●
232. 81601163 c.2071A>G p.N691D missense 0.00000828●●●●●●
233. 81600053 c.2142C>T splice site 0.00000827●●●●●●
234. 81620543 c.1754A>G p.N585S missense 0.00000827●●●●●●
235. 81588641 c.3109C>G p.Q1037E missense 0.00000827●●●●●●
236. 81635164 c.1441-9T>C splice site 0.00000827●●●●●●
237. 81635163 c.1441-8T>G splice site 0.00000827●●●●●●
238. 81593570 c.2680C>T p.P894S missense 0.00000827●●●●●●
239. 81635083 c.1513delA p.Thr505HisfsTer34 frameshift 0.00000827●●●●●●
240. 81579737 c.3247G>A p.V1083I missense 0.00000827●●●●●●
241. 81591294 c.2882G>A p.S961N missense 0.00000827●●●●●●
242. 81593572 c.2678A>T p.E893V missense 0.00000827●●●●●●
243. 81593557 c.2693C>G p.P898R missense 0.00000827●●●●●●
244. 81591295 c.2881A>G p.S961G missense 0.00000827●●●●●●
245. 81579742 c.3242G>T p.W1081L missense 0.00000827●●●●●●
246. 81620525 c.1772C>T p.T591I missense 0.00000827●●●●●●
247. 81611949 c.1895-6T>G splice site 0.00000827●●●●●●
248. 81588629 c.3121C>T p.R1041X nonsense 0.00000827●●●●●●
249. 81591309 c.2867C>A p.S956Y missense 0.00000827●●●●●●
250. 81593569 c.2681C>T p.P894L missense 0.00000827●●●●●●
251. 81593563 c.2687C>T p.A896V missense 0.00000827●●●●●●
252. 81611941 c.1897T>C p.S633P missense 0.00000826●●●●●●
253. 81611887 c.1951C>A p.P651T missense 0.00000826●●●●●●
254. 81611877 c.1955+6T>A splice site 0.00000826●●●●●●
255. 81611898 c.1940C>T p.T647I missense 0.00000826●●●●●●
256. 81746460 c.426C>A p.S142R missense 0.00000826●●●●●●
257. 81635100 c.1496G>A p.R499K missense 0.00000826●●●●●●
258. 81799924 c.296G>A p.R99H missense 0.00000826●●●●●●
259. 81594929 c.2555A>G p.H852R missense 0.00000826●●●●●●
260. 81600020 c.2175T>A p.D725E missense 0.00000826●●●●●●
261. 81746449 c.437A>T p.K146I missense 0.00000826●●●●●●
262. 81635162 c.1441-7A>T splice site 0.00000826●●●●●●
263. 81635160 c.1441-5_1441-3delTAT splice site 0.00000826●●●●●●
264. 81667541 c.890A>G p.N297S missense 0.00000826●●●●●●
265. 81799858 c.354+8C>A splice site 0.00000825●●●●●●
266. 81714177 c.566T>C p.L189S missense 0.00000825●●●●●●
267. 81964552 c.193C>G p.Q65E missense 0.00000825●●●●●●
268. 81799901 c.319G>T p.V107F missense 0.00000825●●●●●●
269. 81746411 c.475A>C p.I159L missense 0.00000825●●●●●●
270. 81746411 c.475A>G p.I159V missense 0.00000825●●●●●●
271. 81746404 c.482A>T p.Y161F missense 0.00000825●●●●●●
272. 81635122 c.1474G>C p.V492L missense 0.00000825●●●●●●
273. 81641514 c.1318A>G p.K440E missense 0.00000825●●●●●●
274. 81799868 c.352G>C p.A118P missense 0.00000825●●●●●●
275. 81641550 c.1282G>A p.D428N missense 0.00000825●●●●●●
276. 81978945 c.116A>G p.K39R missense 0.00000824●●●●●●
277. 81964497 c.248C>T p.A83V missense 0.00000824●●●●●●
278. 81626515 c.1642G>C p.E548Q missense 0.00000824●●●●●●
279. 81964514 c.231G>T p.Q77H missense 0.00000824●●●●●●
280. 81667448 c.983A>G p.K328R missense 0.00000824●●●●●●
281. 81964492 c.253G>A p.D85N missense 0.00000824●●●●●●
282. 81714117 c.626G>T p.G209V missense 0.00000824●●●●●●
283. 81667470 c.961G>A p.A321T missense 0.00000824●●●●●●
284. 81714077 c.658+8C>T splice site 0.00000824●●●●●●
285. 81746361 c.525C>A splice site 0.00000824●●●●●●
286. 81964531 c.214C>A p.P72T missense 0.00000824●●●●●●
287. 81964519 c.226C>T p.R76C 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.