CACNA1D missense variants in ExAC

CACNA1D gene summary
CACNA1D variants in

The table below lists the CACNA1D 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. 53804021 c.3952C>T p.P1318S missense 0.00481054●●●●●●
2. 53835299 c.5315C>T p.T1772I missense 0.00092263●●●●●●
3. 53766920 c.2612T>G p.L871W missense 0.00065903●●●●●●
4. 53752723 c.1493G>A p.R498Q missense 0.00059129●●●●●●
5. 53787624 c.3761A>G p.N1254S missense 0.00051070●●●●●●
6. 53783341 c.3421A>G p.I1141V missense 0.00050309●●●●●●
7. 53834369 c.5077G>A p.E1693K missense 0.00049427●●●●●●
8. 53769508 c.2789G>A p.R930H missense 0.00046368●●●●●●
9. 53845384 c.6497G>A p.R2166K missense 0.00045863●●●●●●
10. 53796092 c.3914C>T p.A1305V missense 0.00040369●●●●●●
11. 53700371 c.925G>A p.V309I missense 0.00034593●●●●●●
12. 53760987 c.2242G>A p.V748I missense 0.00033770●●●●●●
13. 53835422 c.5438G>A p.R1813Q missense 0.00028921●●●●●●
14. 53796091 c.3913G>A p.A1305T missense 0.00025540●●●●●●
15. 53837487 c.5533C>T p.R1845W missense 0.00024714●●●●●●
16. 53796059 c.3881C>T p.S1294F missense 0.00022239●●●●●●
17. 53844126 c.6053C>A p.T2018N missense 0.00021477●●●●●●
18. 53835340 c.5356G>C p.A1786P missense 0.00020601●●●●●●
19. 53766103 c.2527G>A p.V843M missense 0.00019790●●●●●●
20. 53736825 c.1378G>A p.G460S missense 0.00019007●●●●●●
21. 53836178 c.5473C>T p.R1825C missense 0.00018945●●●●●●
22. 53752758 c.1528C>T p.R510W missense 0.00018042●●●●●●
23. 53752414 c.1477T>A p.W493R missense 0.00017341●●●●●●
24. 53757995 c.2129A>G p.N710S missense 0.00016509●●●●●●
25. 53736836 c.1389T>G p.N463K missense 0.00015747●●●●●●
26. 53752710 c.1480T>C p.C494R missense 0.00013850●●●●●●
27. 53844069 c.5996G>A p.R1999Q missense 0.00013214●●●●●●
28. 53845288 c.6401G>T p.R2134L missense 0.00013213●●●●●●
29. 53839069 c.5705G>A p.R1902Q missense 0.00013180●●●●●●
30. 53844275 c.6202C>T p.R2068W missense 0.00012429●●●●●●
31. 53766050 c.2474T>C p.I825T missense 0.00012358●●●●●●
32. 53787662 c.3799G>T p.V1267L missense 0.00012356●●●●●●
33. 53844069 c.5996G>C p.R1999P missense 0.00011562●●●●●●
34. 53839116 c.5752G>A p.V1918I missense 0.00011548●●●●●●
35. 53736798 c.1351G>C p.E451Q missense 0.00011542●●●●●●
36. 53837454 c.5500G>A p.D1834N missense 0.00011540●●●●●●
37. 53837488 c.5534G>A p.R1845Q missense 0.00011533●●●●●●
38. 53835263 c.5279A>G p.H1760R missense 0.00011532●●●●●●
39. 53845342 c.6455A>G p.D2152G missense 0.00009214●●●●●●
40. 53783356 c.3436G>A p.V1146M missense 0.00008242●●●●●●
41. 53756472 c.1697A>G p.N566S missense 0.00007413●●●●●●
42. 53736832 c.1385G>A p.R462Q missense 0.00006624●●●●●●
43. 53844234 c.6161G>A p.R2054Q missense 0.00006609●●●●●●
44. 53839111 c.5747C>T p.S1916L missense 0.00006597●●●●●●
45. 53835355 c.5371C>T p.R1791W missense 0.00006593●●●●●●
46. 53783389 c.3469A>G p.I1157V missense 0.00006590●●●●●●
47. 53779682 c.3098G>A p.R1033Q missense 0.00006590●●●●●●
48. 53736826 c.1379G>A p.G460D missense 0.00005785●●●●●●
49. 53844233 c.6160C>T p.R2054W missense 0.00005783●●●●●●
50. 53845278 c.6391G>A p.V2131M missense 0.00005773●●●●●●
51. 53804531 c.4056G>C p.R1352S missense 0.00005766●●●●●●
52. 53769522 c.2803C>T p.R935W missense 0.00004954●●●●●●
53. 53535697 c.433A>G p.I145V missense 0.00004945●●●●●●
54. 53810927 c.4591C>T p.R1531C missense 0.00004944●●●●●●
55. 53757968 c.2102C>T p.T701M missense 0.00004944●●●●●●
56. 53814150 c.4745C>T p.T1582I missense 0.00004943●●●●●●
57. 53756352 c.1577G>A p.R526H missense 0.00004942●●●●●●
58. 53760951 c.2206A>G p.M736V missense 0.00004942●●●●●●
59. 53752731 c.1501G>A p.A501T missense 0.00004511●●●●●●
60. 53752734 c.1504G>A p.A502T missense 0.00004484●●●●●●
61. 53529253 c.60C>A p.H20Q missense 0.00004163●●●●●●
62. 53842763 c.5897G>A p.R1966H missense 0.00004139●●●●●●
63. 53842738 c.5872C>G p.P1958A missense 0.00004136●●●●●●
64. 53844054 c.5981C>T p.P1994L missense 0.00004133●●●●●●
65. 53844173 c.6100G>A p.G2034S missense 0.00004130●●●●●●
66. 53839132 c.5768G>A p.R1923Q missense 0.00004129●●●●●●
67. 53783335 c.3415G>A p.G1139S missense 0.00004126●●●●●●
68. 53700551 c.1105G>A p.V369M missense 0.00004124●●●●●●
69. 53779863 c.3188G>A p.R1063H missense 0.00004123●●●●●●
70. 53531422 c.311G>A p.R104H missense 0.00004122●●●●●●
71. 53752376 c.1439G>A p.S480N missense 0.00004121●●●●●●
72. 53531401 c.290C>T p.S97L missense 0.00004120●●●●●●
73. 53845164 c.6277C>T p.R2093C missense 0.00004120●●●●●●
74. 53757865 c.1999A>T p.M667L missense 0.00004118●●●●●●
75. 53787651 c.3788T>C p.V1263A missense 0.00004118●●●●●●
76. 53842682 c.5816G>A p.R1939Q missense 0.00003313●●●●●●
77. 53835421 c.5437C>T p.R1813W missense 0.00003305●●●●●●
78. 53844209 c.6136A>G p.T2046A missense 0.00003304●●●●●●
79. 53844104 c.6031C>T p.R2011W missense 0.00003304●●●●●●
80. 53844068 c.5995C>T p.R1999W missense 0.00003303●●●●●●
81. 53820948 c.4952A>G p.Y1651C missense 0.00003299●●●●●●
82. 53756426 c.1651G>A p.V551I missense 0.00003299●●●●●●
83. 53752394 c.1457G>A p.R486Q missense 0.00003298●●●●●●
84. 53845162 c.6275G>A p.G2092E missense 0.00003296●●●●●●
85. 53785816 c.3617G>A p.R1206Q missense 0.00003295●●●●●●
86. 53787617 c.3754A>G p.M1252V missense 0.00003295●●●●●●
87. 53787671 c.3808G>A p.V1270I missense 0.00003295●●●●●●
88. 53785860 c.3661G>A p.V1221M missense 0.00003295●●●●●●
89. 53777041 c.2875A>G p.T959A missense 0.00003295●●●●●●
90. 53835224 c.5240C>T p.P1747L missense 0.00003295●●●●●●
91. 53836185 c.5480A>G p.Y1827C missense 0.00003295●●●●●●
92. 53845378 c.6491C>A p.P2164H missense 0.00002616●●●●●●
93. 53529246 c.53C>G p.A18G missense 0.00002498●●●●●●
94. 53844290 c.6217G>A p.D2073N missense 0.00002490●●●●●●
95. 53844276 c.6203G>A p.R2068Q missense 0.00002486●●●●●●
96. 53842681 c.5815C>T p.R1939W missense 0.00002485●●●●●●
97. 53769529 c.2810C>T p.T937M missense 0.00002480●●●●●●
98. 53844047 c.5974T>C p.Y1992H missense 0.00002480●●●●●●
99. 53844063 c.5990C>T p.S1997L missense 0.00002478●●●●●●
100. 53845288 c.6401G>A p.R2134Q missense 0.00002477●●●●●●
101. 53845296 c.6409G>A p.G2137R missense 0.00002476●●●●●●
102. 53820954 c.4958C>T p.A1653V missense 0.00002475●●●●●●
103. 53845236 c.6349G>A p.D2117N missense 0.00002473●●●●●●
104. 53752368 c.1431G>C p.E477D missense 0.00002473●●●●●●
105. 53783349 c.3429C>A p.N1143K missense 0.00002473●●●●●●
106. 53736796 c.1349C>T p.P450L missense 0.00002473●●●●●●
107. 53766892 c.2584G>A p.G862R missense 0.00002472●●●●●●
108. 53845185 c.6298T>C p.F2100L missense 0.00002472●●●●●●
109. 53766941 c.2633C>T p.A878V missense 0.00002472●●●●●●
110. 53845152 c.6265G>A p.E2089K missense 0.00002472●●●●●●
111. 53796100 c.3922G>A p.E1308K missense 0.00002472●●●●●●
112. 53787605 c.3742G>A p.E1248K missense 0.00002471●●●●●●
113. 53760942 c.2197G>A p.D733N missense 0.00002471●●●●●●
114. 53774326 c.2831A>G p.Y944C missense 0.00002471●●●●●●
115. 53804530 c.4055G>A p.R1352K missense 0.00002471●●●●●●
116. 53835209 c.5225G>C p.S1742T missense 0.00002471●●●●●●
117. 53804467 c.3992A>G p.N1331S missense 0.00002471●●●●●●
118. 53836182 c.5477A>G p.Y1826C missense 0.00002471●●●●●●
119. 53757516 c.1782G>A p.M594I missense 0.00002471●●●●●●
120. 53765136 c.2429A>G p.K810R missense 0.00001681●●●●●●
121. 53844306 c.6233C>T p.A2078V missense 0.00001665●●●●●●
122. 53529240 c.47A>G p.Q16R missense 0.00001665●●●●●●
123. 53779901 c.3226A>G p.R1076G missense 0.00001660●●●●●●
124. 53845320 c.6433C>T p.R2145W missense 0.00001658●●●●●●
125. 53531483 c.372A>C p.E124D missense 0.00001658●●●●●●
126. 53835440 c.5456C>T p.S1819F missense 0.00001656●●●●●●
127. 53842697 c.5831A>C p.N1944T missense 0.00001656●●●●●●
128. 53844020 c.5947G>A p.G1983S missense 0.00001656●●●●●●
129. 53842711 c.5845C>T p.R1949C missense 0.00001655●●●●●●
130. 53736831 c.1384C>G p.R462G missense 0.00001655●●●●●●
131. 53842760 c.5894A>G p.H1965R missense 0.00001655●●●●●●
132. 53842714 c.5848C>T p.R1950W missense 0.00001655●●●●●●
133. 53842766 c.5900C>T p.T1967M missense 0.00001655●●●●●●
134. 53842742 c.5876C>T p.S1959L missense 0.00001654●●●●●●
135. 53845312 c.6425T>A p.L2142H missense 0.00001654●●●●●●
136. 53842739 c.5873C>T p.P1958L missense 0.00001654●●●●●●
137. 53844221 c.6148G>A p.D2050N missense 0.00001652●●●●●●
138. 53839035 c.5671T>C p.Y1891H missense 0.00001652●●●●●●
139. 53844167 c.6094G>A p.V2032M missense 0.00001652●●●●●●
140. 53531446 c.335A>G p.N112S missense 0.00001651●●●●●●
141. 53531257 c.146C>T p.T49I missense 0.00001650●●●●●●
142. 53839119 c.5755T>G p.C1919G missense 0.00001650●●●●●●
143. 53839123 c.5759A>G p.Y1920C missense 0.00001650●●●●●●
144. 53839104 c.5740G>A p.D1914N missense 0.00001649●●●●●●
145. 53779862 c.3187C>T p.R1063C missense 0.00001649●●●●●●
146. 53769492 c.2773G>A p.A925T missense 0.00001649●●●●●●
147. 53783347 c.3427A>G p.N1143D missense 0.00001649●●●●●●
148. 53820920 c.4924C>T p.R1642W missense 0.00001649●●●●●●
149. 53779860 c.3185A>G p.Y1062C missense 0.00001649●●●●●●
150. 53837524 c.5570C>T p.P1857L missense 0.00001648●●●●●●
151. 53783356 c.3436G>T p.V1146L missense 0.00001648●●●●●●
152. 53766071 c.2495A>T p.D832V missense 0.00001648●●●●●●
153. 53834380 c.5088T>A p.D1696E missense 0.00001648●●●●●●
154. 53707750 c.1127C>T p.A376V missense 0.00001648●●●●●●
155. 53769408 c.2689G>A p.V897I missense 0.00001648●●●●●●
156. 53815628 c.4786G>A p.V1596M missense 0.00001648●●●●●●
157. 53781475 c.3374C>T p.A1125V missense 0.00001648●●●●●●
158. 53814129 c.4724G>A p.R1575Q missense 0.00001648●●●●●●
159. 53815623 c.4781G>A p.R1594Q missense 0.00001648●●●●●●
160. 53815652 c.4810A>G p.T1604A missense 0.00001648●●●●●●
161. 53781475 c.3374C>G p.A1125G missense 0.00001648●●●●●●
162. 53699710 c.790A>G p.I264V missense 0.00001648●●●●●●
163. 53787649 c.3786G>A p.M1262I missense 0.00001647●●●●●●
164. 53834350 c.5058G>T p.E1686D missense 0.00001647●●●●●●
165. 53810005 c.4355A>G p.E1452G missense 0.00001647●●●●●●
166. 53839053 c.5689G>A p.D1897N missense 0.00001647●●●●●●
167. 53781414 c.3313G>A p.D1105N missense 0.00001647●●●●●●
168. 53783437 c.3517G>A p.V1173I missense 0.00001647●●●●●●
169. 53707812 c.1189G>A p.V397I missense 0.00001647●●●●●●
170. 53835145 c.5161C>T p.L1721F missense 0.00001647●●●●●●
171. 53808642 c.4199A>C p.N1400T missense 0.00001647●●●●●●
172. 53781418 c.3317A>G p.N1106S missense 0.00001647●●●●●●
173. 53757544 c.1810G>A p.V604I missense 0.00001647●●●●●●
174. 53810031 c.4381A>G p.I1461V missense 0.00001647●●●●●●
175. 53781379 c.3278G>A p.R1093H missense 0.00001647●●●●●●
176. 53757599 c.1865C>T p.T622M missense 0.00001647●●●●●●
177. 53836200 c.5495G>C p.R1832T missense 0.00001647●●●●●●
178. 53774329 c.2834C>T p.A945V missense 0.00001647●●●●●●
179. 53785887 c.3688A>G p.M1230V missense 0.00001647●●●●●●
180. 53785812 c.3613T>A p.L1205M missense 0.00001647●●●●●●
181. 53809998 c.4348G>A p.G1450R missense 0.00001647●●●●●●
182. 53785806 c.3607C>T p.R1203C missense 0.00001647●●●●●●
183. 53756345 c.1570C>T p.R524C missense 0.00001647●●●●●●
184. 53834367 c.5075G>A p.R1692Q missense 0.00001647●●●●●●
185. 53756370 c.1595A>G p.N532S missense 0.00001647●●●●●●
186. 53804470 c.3995G>C p.R1332T missense 0.00001647●●●●●●
187. 53779690 c.3106G>A p.G1036S missense 0.00001647●●●●●●
188. 53845425 c.6538A>G p.T2180A missense 0.00001013●●●●●●
189. 53765108 c.2401G>C p.E801Q missense 0.00000895●●●●●●
190. 53765112 c.2405G>A p.S802N missense 0.00000880●●●●●●
191. 53845380 c.6493G>A p.G2165R missense 0.00000874●●●●●●
192. 53765130 c.2423A>G p.N808S missense 0.00000845●●●●●●
193. 53764564 c.2377G>A p.E793K missense 0.00000843●●●●●●
194. 53765169 c.2462A>T p.N821I missense 0.00000837●●●●●●
195. 53765165 c.2458G>A p.D820N missense 0.00000836●●●●●●
196. 53845335 c.6448C>A p.L2150I missense 0.00000834●●●●●●
197. 53529219 c.26A>C p.K9T missense 0.00000834●●●●●●
198. 53529227 c.34C>T p.H12Y missense 0.00000833●●●●●●
199. 53529223 c.30G>A p.M10I missense 0.00000833●●●●●●
200. 53529233 c.40C>T p.R14W missense 0.00000833●●●●●●
201. 53529259 c.66C>G p.N22K missense 0.00000833●●●●●●
202. 53529234 c.41G>A p.R14Q missense 0.00000833●●●●●●
203. 53529222 c.29T>C p.M10T missense 0.00000833●●●●●●
204. 53764553 c.2366C>T p.A789V missense 0.00000833●●●●●●
205. 53845330 c.6443A>G p.Y2148C missense 0.00000832●●●●●●
206. 53845321 c.6434G>T p.R2145L missense 0.00000829●●●●●●
207. 53835446 c.5462T>G p.V1821G missense 0.00000829●●●●●●
208. 53839161 c.5797C>G p.P1933A missense 0.00000829●●●●●●
209. 53736837 c.1390A>G p.T464A missense 0.00000829●●●●●●
210. 53842678 c.5812C>G p.H1938D missense 0.00000829●●●●●●
211. 53845321 c.6434G>A p.R2145Q missense 0.00000829●●●●●●
212. 53531486 c.375G>C p.W125C missense 0.00000829●●●●●●
213. 53844008 c.5935A>G p.M1979V missense 0.00000828●●●●●●
214. 53842685 c.5819G>C p.R1940T missense 0.00000828●●●●●●
215. 53844263 c.6190C>T p.P2064S missense 0.00000828●●●●●●
216. 53535646 c.382T>C p.F128L missense 0.00000828●●●●●●
217. 53844014 c.5941G>A p.V1981I missense 0.00000828●●●●●●
218. 53764471 c.2284A>G p.I762V missense 0.00000828●●●●●●
219. 53844266 c.6193A>G p.S2065G missense 0.00000828●●●●●●
220. 53839153 c.5789T>G p.L1930R missense 0.00000828●●●●●●
221. 53842705 c.5839T>A p.C1947S missense 0.00000828●●●●●●
222. 53839159 c.5795C>A p.P1932H missense 0.00000828●●●●●●
223. 53844043 c.5970G>T p.Q1990H missense 0.00000827●●●●●●
224. 53842735 c.5869G>T p.V1957F missense 0.00000827●●●●●●
225. 53839145 c.5781G>T p.R1927S missense 0.00000827●●●●●●
226. 53842712 c.5846G>A p.R1949H missense 0.00000827●●●●●●
227. 53845308 c.6421C>T p.P2141S missense 0.00000827●●●●●●
228. 53842724 c.5858G>T p.S1953I missense 0.00000827●●●●●●
229. 53839149 c.5785C>T p.R1929C missense 0.00000827●●●●●●
230. 53844050 c.5977T>G p.S1993A missense 0.00000827●●●●●●
231. 53842738 c.5872C>T p.P1958S missense 0.00000827●●●●●●
232. 53842733 c.5867A>G p.E1956G missense 0.00000827●●●●●●
233. 53764540 c.2353C>G p.Q785E missense 0.00000827●●●●●●
234. 53531224 c.113G>C p.G38A missense 0.00000827●●●●●●
235. 53844147 c.6074A>G p.Q2025R missense 0.00000826●●●●●●
236. 53844089 c.6016G>A p.A2006T missense 0.00000826●●●●●●
237. 53779884 c.3209G>A p.S1070N missense 0.00000826●●●●●●
238. 53844215 c.6142G>A p.E2048K missense 0.00000826●●●●●●
239. 53844227 c.6154T>C p.S2052P missense 0.00000826●●●●●●
240. 53844062 c.5989T>C p.S1997P missense 0.00000826●●●●●●
241. 53844177 c.6104G>C p.S2035T missense 0.00000826●●●●●●
242. 53845299 c.6412G>C p.D2138H missense 0.00000826●●●●●●
243. 53844217 c.6144G>T p.E2048D missense 0.00000826●●●●●●
244. 53837584 c.5630C>T p.S1877L missense 0.00000826●●●●●●
245. 53844105 c.6032G>A p.R2011Q missense 0.00000826●●●●●●
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493. 53814134 c.4729G>T p.A1577S missense 0.00000824●●●●●●
494. 53834384 c.5092G>A p.V1698M missense 0.00000824●●●●●●
495. 53781378 c.3277C>G p.R1093G missense 0.00000824●●●●●●
496. 53781349 c.3248A>C p.K1083T missense 0.00000824●●●●●●
497. 53835280 c.5296A>G p.I1766V missense 0.00000824●●●●●●
498. 53752328 c.1391C>T p.T464I missense 0.00000824●●●●●●
499. 53845179 c.6292C>A p.P2098T missense 0.00000824●●●●●●
500. 53835143 c.5159C>A p.S1720Y missense 0.00000824●●●●●●
501. 53779654 c.3070G>A p.V1024M missense 0.00000824●●●●●●
502. 53757964 c.2098G>A p.E700K missense 0.00000824●●●●●●
503. 53707761 c.1138G>A p.E380K missense 0.00000824●●●●●●
504. 53839077 c.5713C>T p.H1905Y missense 0.00000824●●●●●●
505. 53834295 c.5003A>T p.H1668L missense 0.00000824●●●●●●
506. 53787703 c.3840G>C p.K1280N 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.