CACNA1C missense variants in ExAC

CACNA1C gene summary
CACNA1C variants in

The table below lists the CACNA1C 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. 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. 2788878 c.5360C>T p.T1787M missense 0.00117476●●●●●●
7. 2659186 c.1468G>A p.G490R missense 0.00080929●●●●●●
8. 2788668 c.5150C>G p.A1717G missense 0.00080425●●●●●●
9. 2800220 c.6272A>G p.N2091S missense 0.00079443●●●●●●
10. 2788637 c.5119G>A p.V1707I missense 0.00067811●●●●●●
11. 2595423 c.911T>C p.I304T missense 0.00050343●●●●●●
12. 2794967 c.5639G>A p.R1880Q missense 0.00048958●●●●●●
13. 2797868 c.6040G>A p.V2014I missense 0.00041418●●●●●●
14. 2676738 c.1673C>T p.T558M missense 0.00036630●●●●●●
15. 2788616 c.5098G>A p.G1700S missense 0.00029593●●●●●●
16. 2162763 c.35A>T p.E12V missense 0.00027975●●●●●●
17. 2788926 c.5408G>C p.R1803P missense 0.00027345●●●●●●
18. 2676848 c.1783G>A p.V595I missense 0.00025450●●●●●●
19. 2224416 c.76G>A p.A26T missense 0.00022264●●●●●●
20. 2743496 c.3862G>A p.A1288T missense 0.00021819●●●●●●
21. 2788962 c.5444G>C p.R1815T missense 0.00021017●●●●●●
22. 2788658 c.5140G>A p.G1714S missense 0.00018958●●●●●●
23. 2800109 c.6161A>G p.K2054R missense 0.00018806●●●●●●
24. 2786965 c.5023G>A p.A1675T missense 0.00018302●●●●●●
25. 2715820 c.3200C>T p.A1067V missense 0.00018221●●●●●●
26. 2224542 c.202G>A p.A68T missense 0.00015440●●●●●●
27. 2788667 c.5149G>A p.A1717T missense 0.00015339●●●●●●
28. 2788811 c.5293G>A p.A1765T missense 0.00015330●●●●●●
29. 2794972 c.5644T>C p.S1882P missense 0.00014938●●●●●●
30. 2795398 c.5747A>G p.Q1916R missense 0.00014905●●●●●●
31. 2791763 c.5492C>T p.T1831M missense 0.00013612●●●●●●
32. 2224552 c.212C>T p.A71V missense 0.00013370●●●●●●
33. 2797713 c.5885G>A p.R1962Q missense 0.00013334●●●●●●
34. 2800223 c.6275G>A p.G2092D missense 0.00011416●●●●●●
35. 2797839 c.6011G>T p.G2004V missense 0.00011329●●●●●●
36. 2676758 c.1693G>A p.A565T missense 0.00010781●●●●●●
37. 2800183 c.6235G>A p.D2079N missense 0.00010659●●●●●●
38. 2800292 c.6344G>C p.G2115A missense 0.00010163●●●●●●
39. 2797803 c.5975G>T p.C1992F missense 0.00010046●●●●●●
40. 2224441 c.101C>T p.A34V missense 0.00009465●●●●●●
41. 2788802 c.5284G>C p.G1762R missense 0.00009362●●●●●●
42. 2800336 c.6388G>A p.D2130N missense 0.00009205●●●●●●
43. 2675599 c.1520G>A p.R507H missense 0.00009061●●●●●●
44. 2797944 c.6116C>G p.A2039G missense 0.00008846●●●●●●
45. 2786374 c.4943C>T p.A1648V missense 0.00008687●●●●●●
46. 2786373 c.4942G>A p.A1648T missense 0.00008678●●●●●●
47. 2797883 c.6055C>G p.P2019A missense 0.00008463●●●●●●
48. 2795380 c.5729G>A p.R1910Q missense 0.00008280●●●●●●
49. 2795382 c.5731G>C p.G1911R missense 0.00008280●●●●●●
50. 2788628 c.5110G>A p.G1704S missense 0.00008274●●●●●●
51. 2788638 c.5120T>C p.V1707A missense 0.00008252●●●●●●
52. 2797887 c.6059G>A p.S2020N missense 0.00007629●●●●●●
53. 2795388 c.5737G>A p.D1913N missense 0.00007452●●●●●●
54. 2694564 c.2362C>G p.Q788E missense 0.00007086●●●●●●
55. 2717688 c.3368G>A p.R1123H missense 0.00006748●●●●●●
56. 2659195 c.1477C>A p.L493M missense 0.00006549●●●●●●
57. 2788847 c.5329C>T p.R1777C missense 0.00006183●●●●●●
58. 2676818 c.1753G>A p.V585M missense 0.00006104●●●●●●
59. 2224411 c.71G>A p.R24H missense 0.00006014●●●●●●
60. 2788925 c.5407C>T p.R1803W missense 0.00005982●●●●●●
61. 2797829 c.6001G>A p.G2001S missense 0.00005969●●●●●●
62. 2675634 c.1555G>A p.A519T missense 0.00005916●●●●●●
63. 2659138 c.1420G>T p.V474F missense 0.00005897●●●●●●
64. 2794927 c.5599C>T p.R1867W missense 0.00005814●●●●●●
65. 2721141 c.3790G>A p.V1264M missense 0.00005796●●●●●●
66. 2788922 c.5404A>G p.I1802V missense 0.00005737●●●●●●
67. 2797912 c.6084G>T p.Q2028H missense 0.00005523●●●●●●
68. 2788862 c.5344G>A p.A1782T missense 0.00005469●●●●●●
69. 2788856 c.5338C>T p.R1780C missense 0.00005386●●●●●●
70. 2788680 c.5162C>G p.T1721S missense 0.00005235●●●●●●
71. 2224421 c.81T>G p.H27Q missense 0.00005105●●●●●●
72. 2224422 c.82G>A p.A28T missense 0.00005082●●●●●●
73. 2666122 c.1487G>A p.R496Q missense 0.00004970●●●●●●
74. 2224431 c.91A>G p.N31D missense 0.00004760●●●●●●
75. 2791726 c.5455C>T p.R1819W missense 0.00004707●●●●●●
76. 2788905 c.5387C>T p.P1796L missense 0.00004700●●●●●●
77. 2791748 c.5477C>T p.A1826V missense 0.00004602●●●●●●
78. 2675602 c.1523G>A p.R508Q missense 0.00004459●●●●●●
79. 2788929 c.5411T>C p.V1804A missense 0.00004405●●●●●●
80. 2558244 c.580G>A p.G194S missense 0.00004365●●●●●●
81. 2788656 c.5138A>G p.D1713G missense 0.00004319●●●●●●
82. 2659153 c.1435G>A p.V479M missense 0.00004285●●●●●●
83. 2794999 c.5671G>C p.A1891P missense 0.00004177●●●●●●
84. 2595410 c.898A>G p.N300D missense 0.00004169●●●●●●
85. 2666121 c.1486C>T p.R496W missense 0.00004142●●●●●●
86. 2666120 c.1485C>A p.H495Q missense 0.00004142●●●●●●
87. 2795335 c.5684G>A p.R1895Q missense 0.00004140●●●●●●
88. 2162730 c.2T>C p.Met1? missense 0.00004127●●●●●●
89. 2788959 c.5441A>G p.N1814S missense 0.00004013●●●●●●
90. 2558206 c.542A>G p.Y181C missense 0.00003992●●●●●●
91. 2694552 c.2350C>T p.P784S missense 0.00003971●●●●●●
92. 2783799 c.4819C>T p.P1607S missense 0.00003925●●●●●●
93. 2558146 c.482G>A p.R161Q missense 0.00003909●●●●●●
94. 2224390 c.50G>A p.G17D missense 0.00003854●●●●●●
95. 2675728 c.1649A>G p.N550S missense 0.00003790●●●●●●
96. 2162765 c.37G>A p.E13K missense 0.00003745●●●●●●
97. 2788716 c.5198C>T p.A1733V missense 0.00003722●●●●●●
98. 2783740 c.4760C>T p.A1587V missense 0.00003698●●●●●●
99. 2800177 c.6229G>A p.A2077T missense 0.00003659●●●●●●
100. 2614020 c.1126G>A p.V376I missense 0.00003529●●●●●●
101. 2788773 c.5255C>T p.T1752I missense 0.00003437●●●●●●
102. 2797824 c.5996C>T p.T1999I missense 0.00003393●●●●●●
103. 2659115 c.1397T>C p.M466T missense 0.00003384●●●●●●
104. 2787007 c.5065G>A p.A1689T missense 0.00003318●●●●●●
105. 2602398 c.959C>T p.T320M missense 0.00003315●●●●●●
106. 2595377 c.865C>A p.L289I missense 0.00003315●●●●●●
107. 2795368 c.5717G>A p.R1906Q missense 0.00003312●●●●●●
108. 2224405 c.65G>T p.S22I missense 0.00003309●●●●●●
109. 2717706 c.3386C>T p.T1129M missense 0.00003285●●●●●●
110. 2692072 c.2188T>A p.C730S missense 0.00003269●●●●●●
111. 2659124 c.1406G>A p.S469N missense 0.00003190●●●●●●
112. 2743472 c.3838T>C p.C1280R missense 0.00003121●●●●●●
113. 2224410 c.70C>T p.R24C missense 0.00003075●●●●●●
114. 2694639 c.2437G>A p.G813R missense 0.00003074●●●●●●
115. 2558176 c.512C>T p.T171M missense 0.00003069●●●●●●
116. 2800215 c.6267C>A p.S2089R missense 0.00002990●●●●●●
117. 2659138 c.1420G>A p.V474I missense 0.00002949●●●●●●
118. 2224576 c.236C>T p.T79M missense 0.00002879●●●●●●
119. 2791727 c.5456G>A p.R1819Q missense 0.00002814●●●●●●
120. 2800341 c.6393C>A p.S2131R missense 0.00002785●●●●●●
121. 2676929 c.1864G>A p.V622I missense 0.00002776●●●●●●
122. 2690799 c.1939T>G p.S647A missense 0.00002756●●●●●●
123. 2743496 c.3862G>T p.A1288S missense 0.00002727●●●●●●
124. 2800097 c.6149C>T p.A2050V missense 0.00002663●●●●●●
125. 2788838 c.5320G>A p.A1774T missense 0.00002607●●●●●●
126. 2800099 c.6151C>A p.Q2051K missense 0.00002602●●●●●●
127. 2786926 c.4984G>A p.G1662R missense 0.00002602●●●●●●
128. 2702398 c.2550G>C p.E850D missense 0.00002580●●●●●●
129. 2694598 c.2396C>A p.S799Y missense 0.00002554●●●●●●
130. 2797821 c.5993C>A p.T1998N missense 0.00002534●●●●●●
131. 2797815 c.5987C>T p.A1996V missense 0.00002522●●●●●●
132. 2788662 c.5144G>A p.R1715Q missense 0.00002513●●●●●●
133. 2595413 c.901C>G p.Q301E missense 0.00002504●●●●●●
134. 2716164 c.3224C>T p.T1075M missense 0.00002491●●●●●●
135. 2794928 c.5600G>A p.R1867Q missense 0.00002491●●●●●●
136. 2794976 c.5648C>T p.P1883L missense 0.00002491●●●●●●
137. 2786995 c.5053G>A p.E1685K missense 0.00002489●●●●●●
138. 2788935 c.5417A>T p.E1806V missense 0.00002488●●●●●●
139. 2705071 c.2695G>A p.D899N missense 0.00002486●●●●●●
140. 2602428 c.989C>T p.T330M missense 0.00002482●●●●●●
141. 2719827 c.3679G>A p.V1227I missense 0.00002479●●●●●●
142. 2675590 c.1511G>A p.R504H missense 0.00002419●●●●●●
143. 2224429 c.89T>C p.M30T missense 0.00002408●●●●●●
144. 2224447 c.107C>T p.A36V missense 0.00002330●●●●●●
145. 2788668 c.5150C>T p.A1717V missense 0.00002298●●●●●●
146. 2800117 c.6169G>A p.E2057K missense 0.00002251●●●●●●
147. 2675601 c.1522C>T p.R508W missense 0.00002244●●●●●●
148. 2224509 c.169G>A p.D57N missense 0.00002071●●●●●●
149. 2224477 c.137C>T p.P46L missense 0.00002058●●●●●●
150. 2224474 c.134C>G p.T45S missense 0.00002057●●●●●●
151. 2797862 c.6034C>T p.R2012W missense 0.00001990●●●●●●
152. 2675637 c.1558G>A p.A520T missense 0.00001964●●●●●●
153. 2675661 c.1582T>C p.W528R missense 0.00001953●●●●●●
154. 2800151 c.6203A>C p.D2068A missense 0.00001935●●●●●●
155. 2675729 c.1650C>A p.N550K missense 0.00001895●●●●●●
156. 2797857 c.6029G>T p.R2010I missense 0.00001888●●●●●●
157. 2676768 c.1703C>T p.T568M missense 0.00001887●●●●●●
158. 2558238 c.574C>T p.R192C missense 0.00001887●●●●●●
159. 2162748 c.20G>A p.R7K missense 0.00001883●●●●●●
160. 2800160 c.6212T>C p.I2071T missense 0.00001881●●●●●●
161. 2675719 c.1640A>G p.N547S missense 0.00001876●●●●●●
162. 2797854 c.6026G>A p.R2009Q missense 0.00001869●●●●●●
163. 2224581 c.241C>T p.R81W missense 0.00001868●●●●●●
164. 2791731 c.5460G>C p.E1820D missense 0.00001857●●●●●●
165. 2800172 c.6224A>C p.E2075A missense 0.00001845●●●●●●
166. 2797912 c.6084G>C p.Q2028H missense 0.00001841●●●●●●
167. 2800176 c.6228C>A p.S2076R missense 0.00001839●●●●●●
168. 2788857 c.5339G>A p.R1780H missense 0.00001804●●●●●●
169. 2788644 c.5126A>G p.Y1709C missense 0.00001802●●●●●●
170. 2788917 c.5399C>T p.P1800L missense 0.00001763●●●●●●
171. 2676888 c.1823C>A p.T608N missense 0.00001747●●●●●●
172. 2676893 c.1828A>G p.I610V missense 0.00001747●●●●●●
173. 2788754 c.5236G>A p.E1746K missense 0.00001745●●●●●●
174. 2614074 c.1180T>C p.F394L missense 0.00001735●●●●●●
175. 2702414 c.2566G>A p.G856S missense 0.00001713●●●●●●
176. 2702427 c.2579G>A p.R860Q missense 0.00001710●●●●●●
177. 2716235 c.3295G>A p.D1099N missense 0.00001694●●●●●●
178. 2797643 c.5815C>G p.L1939V missense 0.00001679●●●●●●
179. 2794904 c.5576T>C p.L1859P missense 0.00001668●●●●●●
180. 2797767 c.5939G>A p.S1980N missense 0.00001665●●●●●●
181. 2693752 c.2308G>A p.E770K missense 0.00001663●●●●●●
182. 2794915 c.5587G>A p.D1863N missense 0.00001663●●●●●●
183. 2721099 c.3748G>A p.A1250T missense 0.00001660●●●●●●
184. 2716175 c.3235G>A p.G1079R missense 0.00001660●●●●●●
185. 2794960 c.5632G>A p.D1878N missense 0.00001659●●●●●●
186. 2706415 c.2813T>C p.I938T missense 0.00001658●●●●●●
187. 2706426 c.2824A>G p.T942A missense 0.00001658●●●●●●
188. 2719762 c.3614A>G p.K1205R missense 0.00001657●●●●●●
189. 2229582 c.463A>G p.T155A missense 0.00001656●●●●●●
190. 2229538 c.419C>T p.A140V missense 0.00001656●●●●●●
191. 2760809 c.3949G>A p.A1317T missense 0.00001656●●●●●●
192. 2714875 c.3079C>T p.R1027W missense 0.00001648●●●●●●
193. 2800202 c.6254G>A p.G2085D missense 0.00001647●●●●●●
194. 2788907 c.5389C>G p.P1797A missense 0.00001589●●●●●●
195. 2694617 c.2415G>T p.E805D missense 0.00001570●●●●●●
196. 2788904 c.5386C>A p.P1796T missense 0.00001568●●●●●●
197. 2558223 c.559C>T p.P187S missense 0.00001530●●●●●●
198. 2659132 c.1414G>A p.E472K missense 0.00001530●●●●●●
199. 2659178 c.1460A>C p.E487A missense 0.00001493●●●●●●
200. 2659174 c.1456G>A p.G486R missense 0.00001480●●●●●●
201. 2622141 c.1381C>A p.P461T missense 0.00001476●●●●●●
202. 2788655 c.5137G>A p.D1713N missense 0.00001472●●●●●●
203. 2659173 c.1455G>C p.E485D missense 0.00001469●●●●●●
204. 2659147 c.1429G>A p.E477K missense 0.00001429●●●●●●
205. 2695047 c.2507C>T p.P836L missense 0.00001364●●●●●●
206. 2788893 c.5375A>G p.E1792G missense 0.00001352●●●●●●
207. 2797892 c.6064G>C p.A2022P missense 0.00001331●●●●●●
208. 2694600 c.2398A>C p.K800Q missense 0.00001328●●●●●●
209. 2622128 c.1368G>A p.M456I missense 0.00001323●●●●●●
210. 2622126 c.1366A>G p.M456V missense 0.00001307●●●●●●
211. 2694597 c.2395T>A p.S799T missense 0.00001262●●●●●●
212. 2622120 c.1360G>A p.E454K missense 0.00001254●●●●●●
213. 2695026 c.2486A>G p.N829S missense 0.00001242●●●●●●
214. 2676794 c.1729A>G p.S577G missense 0.00001240●●●●●●
215. 2797884 c.6056C>A p.P2019H missense 0.00001211●●●●●●
216. 2224557 c.217A>G p.I73V missense 0.00001102●●●●●●
217. 2800254 c.6306C>A p.D2102E missense 0.00001096●●●●●●
218. 2800255 c.6307G>A p.A2103T missense 0.00001086●●●●●●
219. 2788678 c.5160G>C p.Q1720H missense 0.00001060●●●●●●
220. 2788678 c.5160G>T p.Q1720H missense 0.00001060●●●●●●
221. 2774047 c.4289A>C p.K1430T missense 0.00001045●●●●●●
222. 2717711 c.3391G>A p.D1131N missense 0.00001042●●●●●●
223. 2788682 c.5164T>G p.F1722V missense 0.00001039●●●●●●
224. 2676951 c.1886A>G p.K629R missense 0.00001025●●●●●●
225. 2224570 c.230G>T p.S77I missense 0.00001002●●●●●●
226. 2694556 c.2354A>T p.E785V missense 0.00001000●●●●●●
227. 2800268 c.6320G>C p.R2107P missense 0.00000997●●●●●●
228. 2797863 c.6035G>A p.R2012Q missense 0.00000996●●●●●●
229. 2788695 c.5177G>A p.R1726H missense 0.00000992●●●●●●
230. 2797860 c.6032T>C p.V2011A missense 0.00000982●●●●●●
231. 2797859 c.6031G>T p.V2011F missense 0.00000982●●●●●●
232. 2797859 c.6031G>A p.V2011I missense 0.00000982●●●●●●
233. 2622073 c.1313T>G p.L438R missense 0.00000975●●●●●●
234. 2717723 c.3403A>G p.I1135V missense 0.00000965●●●●●●
235. 2800276 c.6328G>A p.G2110S missense 0.00000957●●●●●●
236. 2788704 c.5186A>G p.H1729R missense 0.00000952●●●●●●
237. 2788705 c.5187C>G p.H1729Q missense 0.00000951●●●●●●
238. 2676833 c.1768C>T p.R590C missense 0.00000949●●●●●●
239. 2786908 c.4966C>G p.R1656G missense 0.00000949●●●●●●
240. 2788706 c.5188A>G p.I1730V missense 0.00000948●●●●●●
241. 2676834 c.1769G>A p.R590H missense 0.00000946●●●●●●
242. 2676935 c.1870C>A p.L624M missense 0.00000944●●●●●●
243. 2800351 c.6403G>T p.V2135F missense 0.00000941●●●●●●
244. 2622060 c.1300C>A p.L434I missense 0.00000940●●●●●●
245. 2788872 c.5354C>T p.P1785L missense 0.00000928●●●●●●
246. 2800340 c.6392G>T p.S2131I missense 0.00000927●●●●●●
247. 2800291 c.6343G>T p.G2115C missense 0.00000925●●●●●●
248. 2791735 c.5464C>G p.Q1822E missense 0.00000922●●●●●●
249. 2800300 c.6352C>T p.R2118C missense 0.00000921●●●●●●
250. 2716268 c.3328A>G p.T1110A missense 0.00000920●●●●●●
251. 2791739 c.5468C>G p.A1823G missense 0.00000918●●●●●●
252. 2788865 c.5347G>A p.G1783S missense 0.00000918●●●●●●
253. 2800329 c.6381G>C p.E2127D missense 0.00000915●●●●●●
254. 2800310 c.6362G>A p.G2121D missense 0.00000912●●●●●●
255. 2774067 c.4309C>T p.P1437S missense 0.00000910●●●●●●
256. 2224588 c.248G>A p.R83Q missense 0.00000907●●●●●●
257. 2797850 c.6022G>A p.A2008T missense 0.00000905●●●●●●
258. 2786268 c.4837G>A p.V1613I missense 0.00000904●●●●●●
259. 2676851 c.1786G>A p.V596M missense 0.00000902●●●●●●
260. 2676917 c.1852G>A p.V618M missense 0.00000900●●●●●●
261. 2791773 c.5502T>G p.D1834E missense 0.00000899●●●●●●
262. 2786274 c.4843G>A p.V1615I missense 0.00000896●●●●●●
263. 2797847 c.6019G>A p.A2007T missense 0.00000896●●●●●●
264. 2788733 c.5215G>A p.D1739N missense 0.00000893●●●●●●
265. 2595294 c.782T>C p.I261T missense 0.00000891●●●●●●
266. 2791786 c.5515G>A p.V1839M missense 0.00000889●●●●●●
267. 2791805 c.5534C>T p.T1845M missense 0.00000888●●●●●●
268. 2717744 c.3424A>C p.I1142L missense 0.00000888●●●●●●
269. 2791800 c.5529T>G p.H1843Q missense 0.00000887●●●●●●
270. 2788848 c.5330G>A p.R1777H missense 0.00000885●●●●●●
271. 2788743 c.5225C>T p.S1742L missense 0.00000883●●●●●●
272. 2224597 c.257A>G p.Y86C missense 0.00000881●●●●●●
273. 2786923 c.4981A>G p.I1661V missense 0.00000877●●●●●●
274. 2690958 c.2098T>G p.F700V missense 0.00000876●●●●●●
275. 2764389 c.4217T>C p.V1406A missense 0.00000873●●●●●●
276. 2788752 c.5234A>G p.H1745R missense 0.00000873●●●●●●
277. 2676888 c.1823C>T p.T608I missense 0.00000873●●●●●●
278. 2764388 c.4216G>T p.V1406L missense 0.00000872●●●●●●
279. 2614080 c.1186G>A p.V396I missense 0.00000870●●●●●●
280. 2786377 c.4946T>C p.L1649P missense 0.00000870●●●●●●
281. 2566866 c.751G>A p.V251I missense 0.00000868●●●●●●
282. 2786362 c.4931C>T p.S1644F missense 0.00000864●●●●●●
283. 2614045 c.1151A>G p.Y384C missense 0.00000864●●●●●●
284. 2764328 c.4156G>T p.A1386S missense 0.00000863●●●●●●
285. 2786332 c.4901G>A p.R1634H missense 0.00000862●●●●●●
286. 2224615 c.275A>C p.Q92P missense 0.00000862●●●●●●
287. 2786341 c.4910A>G p.Q1637R missense 0.00000860●●●●●●
288. 2224624 c.284C>A p.T95N missense 0.00000857●●●●●●
289. 2702418 c.2570C>G p.P857R missense 0.00000856●●●●●●
290. 2702498 c.2650A>C p.S884R missense 0.00000855●●●●●●
291. 2702441 c.2593C>G p.L865V missense 0.00000854●●●●●●
292. 2788782 c.5264C>G p.P1755R missense 0.00000854●●●●●●
293. 2690897 c.2037T>G p.F679L missense 0.00000853●●●●●●
294. 2797830 c.6002G>A p.G2001D missense 0.00000853●●●●●●
295. 2702454 c.2606A>G p.E869G missense 0.00000853●●●●●●
296. 2764337 c.4165G>C p.D1389H missense 0.00000853●●●●●●
297. 2788788 c.5270G>T p.S1757I missense 0.00000852●●●●●●
298. 2788794 c.5276C>T p.S1759L missense 0.00000852●●●●●●
299. 2224635 c.295C>T p.R99C missense 0.00000851●●●●●●
300. 2788802 c.5284G>A p.G1762S missense 0.00000851●●●●●●
301. 2797826 c.5998C>G p.P2000A missense 0.00000849●●●●●●
302. 2719708 c.3560G>A p.R1187Q missense 0.00000849●●●●●●
303. 2690928 c.2068G>A p.D690N missense 0.00000848●●●●●●
304. 2774852 c.4504G>A p.A1502T missense 0.00000846●●●●●●
305. 2224680 c.340C>T p.R114W missense 0.00000846●●●●●●
306. 2717774 c.3454A>T p.I1152F missense 0.00000845●●●●●●
307. 2224653 c.313C>T p.L105F missense 0.00000845●●●●●●
308. 2797618 c.5790G>C p.L1930F missense 0.00000843●●●●●●
309. 2774094 c.4336C>G p.P1446A missense 0.00000843●●●●●●
310. 2717777 c.3457A>G p.I1153V missense 0.00000843●●●●●●
311. 2786942 c.5000G>A p.R1667Q missense 0.00000841●●●●●●
312. 2760900 c.4040G>A p.R1347Q missense 0.00000841●●●●●●
313. 2797636 c.5808C>G p.S1936R missense 0.00000841●●●●●●
314. 2693779 c.2335G>A p.A779T missense 0.00000841●●●●●●
315. 2797648 c.5820G>C p.Q1940H missense 0.00000839●●●●●●
316. 2797613 c.5785G>T p.A1929S missense 0.00000839●●●●●●
317. 2763050 c.4124C>T p.A1375V missense 0.00000839●●●●●●
318. 2797614 c.5786C>T p.A1929V missense 0.00000839●●●●●●
319. 2797613 c.5785G>A p.A1929T missense 0.00000839●●●●●●
320. 2797655 c.5827C>T p.H1943Y missense 0.00000836●●●●●●
321. 2797798 c.5970C>G p.I1990M missense 0.00000836●●●●●●
322. 2797739 c.5911A>G p.T1971A missense 0.00000836●●●●●●
323. 2566819 c.704C>T p.A235V missense 0.00000835●●●●●●
324. 2797665 c.5837C>T p.A1946V missense 0.00000835●●●●●●
325. 2797733 c.5905G>A p.V1969I missense 0.00000835●●●●●●
326. 2797686 c.5858C>A p.A1953D missense 0.00000834●●●●●●
327. 2794994 c.5666G>A p.R1889H missense 0.00000834●●●●●●
328. 2797742 c.5914C>A p.L1972M missense 0.00000834●●●●●●
329. 2797715 c.5887G>T p.G1963C missense 0.00000834●●●●●●
330. 2786954 c.5012G>C p.G1671A missense 0.00000834●●●●●●
331. 2797745 c.5917C>T p.R1973W missense 0.00000834●●●●●●
332. 2797667 c.5839T>C p.S1947P missense 0.00000834●●●●●●
333. 2786958 c.5016T>G p.D1672E missense 0.00000834●●●●●●
334. 2797748 c.5920C>T p.L1974F missense 0.00000834●●●●●●
335. 2797673 c.5845C>T p.P1949S missense 0.00000834●●●●●●
336. 2786959 c.5017C>G p.L1673V missense 0.00000833●●●●●●
337. 2797785 c.5957G>A p.S1986N missense 0.00000833●●●●●●
338. 2797754 c.5926G>A p.G1976R missense 0.00000833●●●●●●
339. 2797704 c.5876C>T p.P1959L missense 0.00000832●●●●●●
340. 2794985 c.5657G>A p.G1886D missense 0.00000832●●●●●●
341. 2797760 c.5932G>A p.E1978K missense 0.00000832●●●●●●
342. 2797703 c.5875C>G p.P1959A missense 0.00000832●●●●●●
343. 2774112 c.4354G>T p.A1452S missense 0.00000832●●●●●●
344. 2797703 c.5875C>T p.P1959S missense 0.00000832●●●●●●
345. 2721090 c.3739T>C p.F1247L missense 0.00000832●●●●●●
346. 2705040 c.2664G>C p.R888S missense 0.00000831●●●●●●
347. 2721164 c.3813T>G p.I1271M missense 0.00000830●●●●●●
348. 2602368 c.929A>C p.E310A missense 0.00000830●●●●●●
349. 2716194 c.3254T>A p.I1085N missense 0.00000830●●●●●●
350. 2774127 c.4369A>G p.I1457V missense 0.00000830●●●●●●
351. 2721096 c.3745A>T p.I1249F missense 0.00000830●●●●●●
352. 2693740 c.2296C>A p.Q766K missense 0.00000830●●●●●●
353. 2794969 c.5641C>A p.Q1881K missense 0.00000830●●●●●●
354. 2794945 c.5617G>A p.E1873K missense 0.00000830●●●●●●
355. 2787002 c.5060T>A p.V1687E missense 0.00000830●●●●●●
356. 2721099 c.3748G>T p.A1250S missense 0.00000830●●●●●●
357. 2566772 c.657T>A p.D219E missense 0.00000830●●●●●●
358. 2716174 c.3234C>A p.D1078E missense 0.00000830●●●●●●
359. 2786986 c.5044G>A p.A1682T missense 0.00000830●●●●●●
360. 2794966 c.5638C>T p.R1880W missense 0.00000830●●●●●●
361. 2566800 c.685G>T p.A229S missense 0.00000830●●●●●●
362. 2566779 c.664A>G p.N222D missense 0.00000830●●●●●●
363. 2602389 c.950C>A p.A317E missense 0.00000829●●●●●●
364. 2706439 c.2837T>C p.I946T missense 0.00000829●●●●●●
365. 2719747 c.3599G>A p.R1200Q missense 0.00000829●●●●●●
366. 2602389 c.950C>T p.A317V missense 0.00000829●●●●●●
367. 2705119 c.2743A>G p.I915V missense 0.00000829●●●●●●
368. 2705052 c.2676G>C p.Q892H missense 0.00000829●●●●●●
369. 2602392 c.953T>C p.L318P missense 0.00000829●●●●●●
370. 2774139 c.4381A>G p.M1461V missense 0.00000829●●●●●●
371. 2706418 c.2816T>C p.V939A missense 0.00000829●●●●●●
372. 2693737 c.2293G>T p.A765S missense 0.00000829●●●●●●
373. 2602395 c.956A>T p.E319V missense 0.00000829●●●●●●
374. 2714266 c.2980G>A p.V994M missense 0.00000829●●●●●●
375. 2757662 c.3934T>C p.S1312P missense 0.00000828●●●●●●
376. 2795368 c.5717G>T p.R1906L missense 0.00000828●●●●●●
377. 2229550 c.431A>G p.Y144C missense 0.00000828●●●●●●
378. 2760822 c.3962C>A p.S1321Y missense 0.00000828●●●●●●
379. 2795430 c.5779C>T p.H1927Y missense 0.00000828●●●●●●
380. 2229516 c.397A>T p.T133S missense 0.00000828●●●●●●
381. 2705079 c.2703C>G p.I901M missense 0.00000828●●●●●●
382. 2757671 c.3943A>G p.M1315V missense 0.00000828●●●●●●
383. 2795377 c.5726A>T p.D1909V missense 0.00000828●●●●●●
384. 2795332 c.5681G>A p.G1894D missense 0.00000828●●●●●●
385. 2229577 c.458A>G p.N153S missense 0.00000828●●●●●●
386. 2719763 c.3615G>C p.K1205N missense 0.00000828●●●●●●
387. 2719774 c.3626A>G p.Q1209R missense 0.00000828●●●●●●
388. 2229526 c.407C>T p.A136V missense 0.00000828●●●●●●
389. 2757672 c.3944T>C p.M1315T missense 0.00000828●●●●●●
390. 2795383 c.5732G>A p.G1911E missense 0.00000828●●●●●●
391. 2795365 c.5714A>G p.K1905R missense 0.00000828●●●●●●
392. 2778178 c.4703C>T p.T1568M missense 0.00000828●●●●●●
393. 2795391 c.5740A>T p.I1914F missense 0.00000828●●●●●●
394. 2778192 c.4717A>G p.K1573E missense 0.00000828●●●●●●
395. 2778100 c.4625G>A p.R1542H missense 0.00000828●●●●●●
396. 2229501 c.382A>G p.I128V missense 0.00000828●●●●●●
397. 2719791 c.3643G>C p.V1215L missense 0.00000827●●●●●●
398. 2719848 c.3700A>G p.I1234V missense 0.00000827●●●●●●
399. 2719826 c.3678C>G p.F1226L missense 0.00000827●●●●●●
400. 2774795 c.4447A>T p.T1483S missense 0.00000827●●●●●●
401. 2778154 c.4679C>T p.A1560V missense 0.00000827●●●●●●
402. 2719852 c.3704G>T p.C1235F missense 0.00000827●●●●●●
403. 2719791 c.3643G>A p.V1215M missense 0.00000827●●●●●●
404. 2719839 c.3691C>T p.L1231F missense 0.00000827●●●●●●
405. 2602541 c.1102G>A p.V368M missense 0.00000826●●●●●●
406. 2719827 c.3679G>C p.V1227L missense 0.00000826●●●●●●
407. 2711122 c.2956A>G p.I986V missense 0.00000826●●●●●●
408. 2711093 c.2927T>C p.V976A missense 0.00000825●●●●●●
409. 2714923 c.3127T>C p.F1043L missense 0.00000824●●●●●●
410. 2714932 c.3136A>G p.I1046V missense 0.00000824●●●●●●
411. 2714860 c.3064G>A p.V1022M missense 0.00000824●●●●●●
412. 2714869 c.3073G>A p.A1025T 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.