CACNA2D1 missense variants in ExAC

CACNA2D1 gene summary
CACNA2D1 variants in

The table below lists the CACNA2D1 missense 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. 81588616 c.3134A>C p.D1045A missense 0.00280536●●●●●●
2. 81601108 c.2126G>A p.S709N missense 0.00268951●●●●●●
3. 81599241 c.2264G>C p.S755T missense 0.00077414●●●●●●
4. 82072762 c.14G>C p.C5S missense 0.00039095●●●●●●
5. 81601175 c.2059G>A p.A687T missense 0.00034802●●●●●●
6. 81714151 c.592G>A p.E198K missense 0.00027203●●●●●●
7. 82072719 c.57C>G p.I19M missense 0.00026402●●●●●●
8. 81593384 c.2768C>G p.T923S missense 0.00021182●●●●●●
9. 81637030 c.1405A>G p.I469V missense 0.00018725●●●●●●
10. 81579719 c.3265C>T p.R1089C missense 0.00014043●●●●●●
11. 81593401 c.2751A>T p.Q917H missense 0.00012617●●●●●●
12. 81662210 c.1046T>C p.V349A missense 0.00007541●●●●●●
13. 81662190 c.1066A>G p.K356E missense 0.00007507●●●●●●
14. 81601174 c.2060C>T p.A687V missense 0.00007456●●●●●●
15. 81598265 c.2333C>T p.S778L missense 0.00005826●●●●●●
16. 81579766 c.3218T>C p.I1073T missense 0.00005811●●●●●●
17. 81591315 c.2861C>T p.T954M missense 0.00005791●●●●●●
18. 81635088 c.1508G>A p.R503H missense 0.00005785●●●●●●
19. 81746451 c.435A>G p.I145M missense 0.00005780●●●●●●
20. 82072708 c.68C>T p.S23L missense 0.00005369●●●●●●
21. 81603848 c.1976A>C p.K659T missense 0.00005337●●●●●●
22. 81662120 c.1136A>C p.D379A missense 0.00005281●●●●●●
23. 81695822 c.677A>G p.N226S missense 0.00005041●●●●●●
24. 81964567 c.178A>G p.I60V missense 0.00004958●●●●●●
25. 81635089 c.1507C>T p.R503C missense 0.00004958●●●●●●
26. 81662115 c.1141A>G p.K381E missense 0.00004574●●●●●●
27. 81589052 c.3060A>G p.I1020M missense 0.00004250●●●●●●
28. 81589096 c.3016G>A p.V1006I missense 0.00004184●●●●●●
29. 81611940 c.1898C>T p.S633L missense 0.00004131●●●●●●
30. 81964518 c.227G>A p.R76H missense 0.00004120●●●●●●
31. 82072714 c.62C>T p.P21L missense 0.00003544●●●●●●
32. 81589047 c.3065C>T p.A1022V missense 0.00003431●●●●●●
33. 81579785 c.3199C>G p.P1067A missense 0.00003353●●●●●●
34. 81624233 c.1685G>C p.G562A missense 0.00003334●●●●●●
35. 81598274 c.2324C>A p.A775D missense 0.00003334●●●●●●
36. 81714211 c.532A>G p.I178V missense 0.00003331●●●●●●
37. 81591258 c.2918A>T p.N973I missense 0.00003312●●●●●●
38. 81593567 c.2683G>A p.G895S missense 0.00003308●●●●●●
39. 81600036 c.2159G>A p.R720Q missense 0.00003306●●●●●●
40. 81579730 c.3254G>A p.G1085D missense 0.00003306●●●●●●
41. 81579718 c.3266G>A p.R1089H missense 0.00003305●●●●●●
42. 81667534 c.897G>C p.Q299H missense 0.00003301●●●●●●
43. 81714153 c.590G>A p.R197H missense 0.00003298●●●●●●
44. 81714113 c.630T>G p.S210R missense 0.00003296●●●●●●
45. 81603833 c.1991A>G p.N664S missense 0.00003118●●●●●●
46. 81613993 c.1831T>C p.Y611H missense 0.00003032●●●●●●
47. 81613990 c.1834A>G p.I612V missense 0.00003010●●●●●●
48. 81613969 c.1855A>T p.T619S missense 0.00002973●●●●●●
49. 81613970 c.1854G>T p.E618D missense 0.00002967●●●●●●
50. 81591807 c.2785A>G p.I929V missense 0.00002875●●●●●●
51. 82072687 c.89C>T p.A30V missense 0.00002814●●●●●●
52. 81591801 c.2791C>G p.Q931E missense 0.00002678●●●●●●
53. 81589062 c.3050G>A p.R1017Q missense 0.00002528●●●●●●
54. 81599230 c.2275G>A p.D759N missense 0.00002501●●●●●●
55. 81591262 c.2914G>A p.D972N missense 0.00002484●●●●●●
56. 81579746 c.3238C>T p.L1080F missense 0.00002482●●●●●●
57. 81591310 c.2866T>C p.S956P missense 0.00002481●●●●●●
58. 81593564 c.2686G>A p.A896T missense 0.00002480●●●●●●
59. 81641532 c.1300A>G p.M434V missense 0.00002474●●●●●●
60. 81714154 c.589C>T p.R197C missense 0.00002473●●●●●●
61. 81626509 c.1648G>T p.D550Y missense 0.00002471●●●●●●
62. 81603831 c.1993A>G p.T665A missense 0.00002070●●●●●●
63. 81603807 c.2017G>A p.E673K missense 0.00002051●●●●●●
64. 81596925 c.2450C>T p.S817L missense 0.00001835●●●●●●
65. 82072725 c.51G>C p.L17F missense 0.00001749●●●●●●
66. 81765990 c.357C>A p.S119R missense 0.00001742●●●●●●
67. 81765988 c.359A>G p.N120S missense 0.00001709●●●●●●
68. 81637060 c.1375G>C p.V459L missense 0.00001694●●●●●●
69. 81695807 c.692A>G p.N231S missense 0.00001674●●●●●●
70. 81579774 c.3210G>T p.W1070C missense 0.00001666●●●●●●
71. 81599283 c.2222A>C p.Q741P missense 0.00001665●●●●●●
72. 81599250 c.2255A>G p.Y752C missense 0.00001664●●●●●●
73. 81765980 c.367G>A p.V123I missense 0.00001662●●●●●●
74. 81601157 c.2077G>A p.V693I missense 0.00001656●●●●●●
75. 81591319 c.2857T>C p.F953L missense 0.00001655●●●●●●
76. 81591289 c.2887A>G p.I963V missense 0.00001655●●●●●●
77. 81591325 c.2851G>A p.D951N missense 0.00001655●●●●●●
78. 81600053 c.2142C>G p.I714M missense 0.00001653●●●●●●
79. 81593540 c.2710C>T p.H904Y missense 0.00001653●●●●●●
80. 81635091 c.1505C>T p.P502L missense 0.00001652●●●●●●
81. 81611893 c.1945A>G p.I649V missense 0.00001651●●●●●●
82. 81611914 c.1924G>C p.E642Q missense 0.00001651●●●●●●
83. 81964527 c.218A>G p.N73S missense 0.00001648●●●●●●
84. 81667454 c.977C>T p.T326I missense 0.00001648●●●●●●
85. 81626499 c.1658T>A p.V553E missense 0.00001648●●●●●●
86. 81978888 c.173T>C p.V58A missense 0.00001648●●●●●●
87. 81626508 c.1649A>T p.D550V missense 0.00001648●●●●●●
88. 81964524 c.221A>C p.N74T missense 0.00001648●●●●●●
89. 81714096 c.647G>A p.R216Q missense 0.00001648●●●●●●
90. 81634804 c.1525A>C p.N509H missense 0.00001504●●●●●●
91. 81634800 c.1529G>A p.G510E missense 0.00001477●●●●●●
92. 81591804 c.2788C>A p.L930I missense 0.00001445●●●●●●
93. 81591806 c.2786T>C p.I929T missense 0.00001435●●●●●●
94. 81591792 c.2800C>T p.L934F missense 0.00001257●●●●●●
95. 81603857 c.1967A>G p.N656S missense 0.00001097●●●●●●
96. 81603834 c.1990A>G p.N664D missense 0.00001048●●●●●●
97. 81603831 c.1993A>C p.T665P missense 0.00001035●●●●●●
98. 81637002 c.1433A>G p.N478S missense 0.00001018●●●●●●
99. 82072685 c.91G>A p.V31I missense 0.00000947●●●●●●
100. 81589144 c.2968A>G p.I990V missense 0.00000914●●●●●●
101. 81612631 c.1893G>C p.K631N missense 0.00000894●●●●●●
102. 82072760 c.16C>G p.L6V missense 0.00000885●●●●●●
103. 82072718 c.58G>A p.G20S missense 0.00000881●●●●●●
104. 81662123 c.1133A>C p.K378T missense 0.00000866●●●●●●
105. 81695830 c.669G>T p.W223C missense 0.00000863●●●●●●
106. 81589047 c.3065C>A p.A1022E missense 0.00000858●●●●●●
107. 81695828 c.671T>A p.V224D missense 0.00000856●●●●●●
108. 81593375 c.2777C>T p.A926V missense 0.00000855●●●●●●
109. 81593376 c.2776G>A p.A926T missense 0.00000854●●●●●●
110. 81593376 c.2776G>T p.A926S missense 0.00000854●●●●●●
111. 81599198 c.2307C>G p.N769K missense 0.00000848●●●●●●
112. 81637041 c.1394C>G p.P465R missense 0.00000846●●●●●●
113. 81637042 c.1393C>A p.P465T missense 0.00000845●●●●●●
114. 81662134 c.1122C>G p.N374K missense 0.00000844●●●●●●
115. 81662135 c.1121A>G p.N374S missense 0.00000843●●●●●●
116. 81599205 c.2300A>G p.Y767C missense 0.00000842●●●●●●
117. 81662217 c.1039T>C p.Y347H missense 0.00000841●●●●●●
118. 81693666 c.733A>G p.I245V missense 0.00000840●●●●●●
119. 81662144 c.1112A>C p.E371A missense 0.00000838●●●●●●
120. 81579785 c.3199C>T p.P1067S missense 0.00000838●●●●●●
121. 81598280 c.2318C>T p.P773L missense 0.00000838●●●●●●
122. 81662208 c.1048T>G p.S350A missense 0.00000837●●●●●●
123. 81598278 c.2320G>T p.G774C missense 0.00000836●●●●●●
124. 81598278 c.2320G>A p.G774S missense 0.00000836●●●●●●
125. 81579781 c.3203C>T p.S1068F missense 0.00000836●●●●●●
126. 81695780 c.719G>T p.R240I missense 0.00000835●●●●●●
127. 81599221 c.2284G>C p.V762L missense 0.00000835●●●●●●
128. 81598277 c.2321G>A p.G774D missense 0.00000835●●●●●●
129. 81579775 c.3209G>T p.W1070L missense 0.00000834●●●●●●
130. 81601093 c.2141T>A p.I714N missense 0.00000834●●●●●●
131. 81624203 c.1715T>C p.L572P missense 0.00000834●●●●●●
132. 81624228 c.1690A>G p.S564G missense 0.00000833●●●●●●
133. 81598271 c.2327A>G p.Y776C missense 0.00000833●●●●●●
134. 81593639 c.2611A>T p.M871L missense 0.00000833●●●●●●
135. 81599292 c.2213A>G p.E738G missense 0.00000833●●●●●●
136. 81599268 c.2237C>T p.T746I missense 0.00000832●●●●●●
137. 81598209 c.2389C>T p.P797S missense 0.00000832●●●●●●
138. 81624217 c.1701A>C p.K567N missense 0.00000832●●●●●●
139. 81598257 c.2341A>G p.M781V missense 0.00000831●●●●●●
140. 81588671 c.3079G>A p.D1027N missense 0.00000830●●●●●●
141. 81593626 c.2624T>C p.V875A missense 0.00000830●●●●●●
142. 81689751 c.872T>C p.V291A missense 0.00000830●●●●●●
143. 81598242 c.2356G>A p.V786I missense 0.00000830●●●●●●
144. 81593605 c.2645T>C p.F882S missense 0.00000829●●●●●●
145. 81601176 c.2058C>A p.N686K missense 0.00000829●●●●●●
146. 81689758 c.865G>A p.V289M missense 0.00000829●●●●●●
147. 81746476 c.410A>G p.D137G missense 0.00000829●●●●●●
148. 81620559 c.1738T>C p.Y580H missense 0.00000829●●●●●●
149. 81689805 c.818G>A p.R273Q missense 0.00000829●●●●●●
150. 81643761 c.1178A>G p.N393S missense 0.00000829●●●●●●
151. 81601131 c.2103T>A p.N701K missense 0.00000828●●●●●●
152. 81601163 c.2071A>G p.N691D missense 0.00000828●●●●●●
153. 81601151 c.2083C>G p.L695V missense 0.00000828●●●●●●
154. 81601156 c.2078T>C p.V693A missense 0.00000828●●●●●●
155. 81591256 c.2920G>T p.D974Y missense 0.00000828●●●●●●
156. 81579749 c.3235C>G p.L1079V missense 0.00000828●●●●●●
157. 81588649 c.3101T>C p.M1034T missense 0.00000828●●●●●●
158. 81591333 c.2843T>C p.M948T missense 0.00000828●●●●●●
159. 81579737 c.3247G>A p.V1083I missense 0.00000827●●●●●●
160. 81620543 c.1754A>G p.N585S missense 0.00000827●●●●●●
161. 81593569 c.2681C>T p.P894L missense 0.00000827●●●●●●
162. 81579742 c.3242G>T p.W1081L missense 0.00000827●●●●●●
163. 81593563 c.2687C>T p.A896V missense 0.00000827●●●●●●
164. 81588641 c.3109C>G p.Q1037E missense 0.00000827●●●●●●
165. 81593570 c.2680C>T p.P894S missense 0.00000827●●●●●●
166. 81591309 c.2867C>A p.S956Y missense 0.00000827●●●●●●
167. 81591294 c.2882G>A p.S961N missense 0.00000827●●●●●●
168. 81620525 c.1772C>T p.T591I missense 0.00000827●●●●●●
169. 81593572 c.2678A>T p.E893V missense 0.00000827●●●●●●
170. 81593557 c.2693C>G p.P898R missense 0.00000827●●●●●●
171. 81591295 c.2881A>G p.S961G missense 0.00000827●●●●●●
172. 81600020 c.2175T>A p.D725E missense 0.00000826●●●●●●
173. 81594929 c.2555A>G p.H852R missense 0.00000826●●●●●●
174. 81611887 c.1951C>A p.P651T missense 0.00000826●●●●●●
175. 81746460 c.426C>A p.S142R missense 0.00000826●●●●●●
176. 81611941 c.1897T>C p.S633P missense 0.00000826●●●●●●
177. 81635100 c.1496G>A p.R499K missense 0.00000826●●●●●●
178. 81799924 c.296G>A p.R99H missense 0.00000826●●●●●●
179. 81611898 c.1940C>T p.T647I missense 0.00000826●●●●●●
180. 81667541 c.890A>G p.N297S missense 0.00000826●●●●●●
181. 81746449 c.437A>T p.K146I missense 0.00000826●●●●●●
182. 81746404 c.482A>T p.Y161F missense 0.00000825●●●●●●
183. 81641514 c.1318A>G p.K440E missense 0.00000825●●●●●●
184. 81635122 c.1474G>C p.V492L missense 0.00000825●●●●●●
185. 81799868 c.352G>C p.A118P missense 0.00000825●●●●●●
186. 81746411 c.475A>G p.I159V missense 0.00000825●●●●●●
187. 81641550 c.1282G>A p.D428N missense 0.00000825●●●●●●
188. 81746411 c.475A>C p.I159L missense 0.00000825●●●●●●
189. 81714177 c.566T>C p.L189S missense 0.00000825●●●●●●
190. 81964552 c.193C>G p.Q65E missense 0.00000825●●●●●●
191. 81799901 c.319G>T p.V107F missense 0.00000825●●●●●●
192. 81964514 c.231G>T p.Q77H missense 0.00000824●●●●●●
193. 81667448 c.983A>G p.K328R missense 0.00000824●●●●●●
194. 81626515 c.1642G>C p.E548Q missense 0.00000824●●●●●●
195. 81964492 c.253G>A p.D85N missense 0.00000824●●●●●●
196. 81714117 c.626G>T p.G209V missense 0.00000824●●●●●●
197. 81667470 c.961G>A p.A321T missense 0.00000824●●●●●●
198. 81964531 c.214C>A p.P72T missense 0.00000824●●●●●●
199. 81964519 c.226C>T p.R76C missense 0.00000824●●●●●●
200. 81978945 c.116A>G p.K39R missense 0.00000824●●●●●●
201. 81964497 c.248C>T p.A83V 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.