PKP2 variants in ExAC


The table below lists the PKP2 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 frequencyPopulations*
1. 33021934 c.1097T>C p.L366P missense 0.18002142
2. 32955330 c.2299+7C>T splice site 0.03238940
3. 33049457 c.209G>T p.S70I missense 0.02422868
4. 33049590 c.76G>A p.D26N missense 0.01399654
5. 33049492 c.174G>T p.E58D missense 0.00753651
6. 32994058 c.1592T>G p.I531S missense 0.00472203
7. 32977104 c.1689-8dupT splice site 0.00388513
8. 33031023 c.791C>T p.A264V missense 0.00304697
9. 33003918 c.1171-11T>C splice site 0.00288930
10. 32977026 c.1759G>A p.V587I missense 0.00236506
11. 33031395 c.419C>T p.S140F missense 0.00231988
12. 32994073 c.1577C>T p.T526M missense 0.00230133
13. 33030802 c.1012A>G p.T338A missense 0.00183793
14. 33003706 c.1372A>G p.I458V missense 0.00129534
15. 33031309 c.505A>G p.S169G missense 0.00121987
16. 32949101 c.2431C>A p.R811S missense 0.00086482
17. 32949140 c.2392A>G p.T798A missense 0.00077426
18. 33031108 c.706G>T p.A236S missense 0.00063563
19. 32996158 c.1468C>T p.R490W missense 0.00061462
20. 33031408 c.406G>A p.V136M missense 0.00055010
21. 33021917 c.1114G>C p.A372P missense 0.00052718
22. 32993953 c.1688+9A>G splice site 0.00049444
23. 32949047 c.2485G>A p.D829N missense 0.00045304
24. 32994100 c.1550A>G p.N517S missense 0.00042184
25. 32949167 c.2365A>G p.I789V missense 0.00035428
26. 33021938 c.1093A>G p.M365V missense 0.00035420
27. 32996206 c.1420G>A p.A474T missense 0.00025273
28. 33049652 c.14G>A p.G5D missense 0.00023929
29. 32996193 c.1433C>T p.A478V missense 0.00022471
30. 32994014 c.1636G>A p.A546T missense 0.00021417
31. 32996205 c.1421C>T p.A474V missense 0.00021080
32. 33049631 c.35A>G p.Y12C missense 0.00019503
33. 32996136 c.1490G>A p.R497Q missense 0.00019311
34. 32949238 c.2300-6T>C splice site 0.00017741
35. 32974348 c.2087A>G p.N696S missense 0.00017310
36. 32945373 c.2631C>A p.H877Q missense 0.00017300
37. 33049482 c.184C>A p.Q62K missense 0.00016793
38. 33030988 c.826C>T p.P276S missense 0.00015700
39. 32996248 c.1379-1G>A essential splice site 0.00014985
40. 32994074 c.1576A>G p.T526A missense 0.00014849
41. 32974352 c.2083C>T p.R695C missense 0.00014838
42. 32955486 c.2150C>T p.P717L missense 0.00013183
43. 33003840 c.1238G>A p.R413Q missense 0.00012355
44. 33031888 c.302G>A p.R101H missense 0.00011535
45. 33031883 c.307C>A p.P103T missense 0.00011534
46. 32994061 c.1589A>T p.N530I missense 0.00010714
47. 32996157 c.1469G>A p.R490Q missense 0.00010635
48. 33049490 c.176A>T p.Q59L missense 0.00010523
49. 33030829 c.985A>T p.S329C missense 0.00009981
50. 33030861 c.953A>C p.H318P missense 0.00009923
51. 33031084 c.730C>G p.P244A missense 0.00009910
52. 33031266 c.548G>A p.S183N missense 0.00009887
53. 33031089 c.725C>T p.T242M missense 0.00009084
54. 32949045 c.2487T>C p.D829D splice site 0.00009061
55. 32996161 c.1465G>A p.G489R missense 0.00008684
56. 33049610 c.56A>C p.Q19P missense 0.00008414
57. 32949229 c.2303A>C p.K768T missense 0.00008410
58. 33003847 c.1231G>A p.V411I missense 0.00008237
59. 32949050 c.2482G>A p.G828S missense 0.00008237
60. 32949236 c.2300-4G>C splice site 0.00008079
61. 32996164 c.1462G>A p.G488S missense 0.00008059
62. 33031408 c.406G>T p.V136L missense 0.00007501
63. 33031400 c.414A>T p.E138D missense 0.00007474
64. 33030850 c.964G>T p.G322C missense 0.00007451
65. 33030919 c.895C>T p.R299C missense 0.00007431
66. 32945663 c.2492A>G p.Y831C missense 0.00007415
67. 33031203 c.611G>A p.R204H missense 0.00007414
68. 32974306 c.2129C>T p.T710M missense 0.00006597
69. 33031341 c.473G>A p.R158K missense 0.00006597
70. 32975500 c.1872G>T p.E624D missense 0.00006593
71. 32974415 c.2020G>A p.V674M missense 0.00006593
72. 32974414 c.2021T>C p.V674A missense 0.00006592
73. 33031255 c.559G>A p.A187T missense 0.00006591
74. 33030873 c.941G>A p.G314E missense 0.00005784
75. 33030915 c.899C>A p.T300K missense 0.00005780
76. 32949068 c.2464A>G p.I822V missense 0.00005766
77. 32945603 c.2552C>T p.T851M missense 0.00005766
78. 32993981 c.1669A>G p.N557D missense 0.00005766
79. 32955432 c.2204G>A p.R735Q missense 0.00005766
80. 32945392 c.2612G>A p.R871Q missense 0.00005766
81. 32996139 c.1487T>A p.V496D missense 0.00005050
82. 33030886 c.928G>A p.V310M missense 0.00004955
83. 32949200 c.2332A>G p.I778V missense 0.00004949
84. 32955329 c.2299+8G>A splice site 0.00004945
85. 32955491 c.2146-1G>C essential splice site 0.00004944
86. 32955363 c.2273G>A p.R758Q missense 0.00004943
87. 32945631 c.2524G>A p.V842I missense 0.00004942
88. 32949098 c.2434G>A p.D812N missense 0.00004942
89. 32996128 c.1498C>T p.P500S missense 0.00004734
90. 32996241 c.1385C>G p.T462R missense 0.00004164
91. 33030831 c.983G>C p.G328A missense 0.00004159
92. 33030843 c.971_972insCT p.Ala325TrpfsTer28 frameshift 0.00004148
93. 33030846 c.968_969delAG p.Gln323ArgfsTer12 frameshift 0.00004145
94. 33030874 c.940G>A p.G314R missense 0.00004131
95. 33031026 c.788C>T p.T263M missense 0.00004129
96. 33031101 c.713C>T p.P238L missense 0.00004129
97. 32974461 c.1974A>G p.Q658Q splice site 0.00004127
98. 32975561 c.1811C>T p.T604M missense 0.00004126
99. 33021962 c.1069G>A p.V357M missense 0.00004119
100. 32994035 c.1615C>G p.P539A missense 0.00004119
101. 33031204 c.610C>T p.R204C missense 0.00004119
102. 32993978 c.1672G>A p.V558I missense 0.00004119
103. 32949101 c.2431C>T p.R811C missense 0.00004118
104. 32996137 c.1489C>T p.R497X nonsense 0.00003606
105. 33030834 c.980G>T p.G327V missense 0.00003325
106. 33031066 c.748C>T p.R250C missense 0.00003305
107. 33030976 c.838G>A p.V280I missense 0.00003305
108. 33030876 c.938G>A p.S313N missense 0.00003304
109. 33031126 c.688G>A p.V230I missense 0.00003300
110. 33031350 c.464G>C p.S155T missense 0.00003299
111. 32974355 c.2080G>A p.V694I missense 0.00003297
112. 32975444 c.1928A>G p.K643R missense 0.00003297
113. 32974373 c.2062T>C p.S688P missense 0.00003296
114. 33031902 c.288T>G p.D96E missense 0.00003296
115. 32993990 c.1660A>G p.I554V missense 0.00003295
116. 33021950 c.1081G>A p.E361K missense 0.00003295
117. 33021986 c.1045A>G p.M349V missense 0.00003295
118. 32945618 c.2537C>T p.S846F missense 0.00003295
119. 32993999 c.1651G>A p.D551N missense 0.00003295
120. 32949166 c.2366T>A p.I789N missense 0.00003295
121. 33049472 c.194C>T p.A65V missense 0.00003207
122. 33049530 c.136C>A p.R46S missense 0.00003098
123. 33049589 c.77A>G p.D26G missense 0.00003089
124. 33049588 c.78C>A p.D26E missense 0.00003080
125. 32996122 c.1504C>T p.Q502X nonsense 0.00002854
126. 33049520 c.146A>G p.Q49R missense 0.00002829
127. 32996151 c.1475_1476insCT p.Arg493Ter frameshift 0.00002799
128. 33030790 c.1024T>C p.S342P missense 0.00002566
129. 33030804 c.1010G>A p.S337N missense 0.00002526
130. 33049443 c.223G>A p.G75R missense 0.00002480
131. 32994092 c.1558A>G p.I520V missense 0.00002479
132. 32974468 c.1972-5G>C splice site 0.00002478
133. 33031030 c.784C>A p.L262M missense 0.00002477
134. 32974301 c.2134G>A p.G712R missense 0.00002475
135. 32974441 c.1994C>G p.P665R missense 0.00002474
136. 32994067 c.1583C>T p.T528M missense 0.00002474
137. 32994062 c.1588A>G p.N530D missense 0.00002473
138. 32974351 c.2084G>A p.R695H missense 0.00002473
139. 32975415 c.1957A>G p.R653G missense 0.00002473
140. 32945671 c.2490-6T>C splice site 0.00002472
141. 32975484 c.1888A>G p.I630V missense 0.00002472
142. 33003888 c.1190T>A p.I397N missense 0.00002472
143. 32993955 c.1688+7C>T splice site 0.00002472
144. 33031194 c.620C>G p.T207S missense 0.00002472
145. 32949166 c.2366T>C p.I789T missense 0.00002472
146. 33031209 c.605T>C p.V202A missense 0.00002471
147. 32949083 c.2449G>A p.G817R missense 0.00002471
148. 32949042 c.2489+1G>A essential splice site 0.00002471
149. 33021967 c.1064G>A p.R355Q missense 0.00002471
150. 32949100 c.2432G>A p.R811H missense 0.00002471
151. 32945612 c.2543G>C p.W848S missense 0.00002471
152. 33003756 c.1322G>A p.R441Q missense 0.00002471
153. 32996166 c.1460A>G p.Q487R missense 0.00002008
154. 32996134 c.1492G>A p.D498N missense 0.00002006
155. 33049556 c.110A>G p.K37R missense 0.00001943
156. 32996184 c.1442C>T p.P481L missense 0.00001776
157. 32996202 c.1424T>G p.V475G missense 0.00001692
158. 32996211 c.1415C>T p.P472L missense 0.00001677
159. 32996242 c.1384A>G p.T462A missense 0.00001665
160. 33030832 c.982G>A p.G328R missense 0.00001663
161. 32994144 c.1511-5T>C splice site 0.00001662
162. 33030840 c.974C>T p.A325V missense 0.00001660
163. 33030843 c.971C>T p.A324V missense 0.00001659
164. 33030850 c.964G>A p.G322S missense 0.00001656
165. 33031074 c.740G>A p.G247E missense 0.00001656
166. 33031006 c.808C>T p.Q270X nonsense 0.00001652
167. 33030960 c.854C>T p.A285V missense 0.00001652
168. 33030921 c.893C>A p.T298N missense 0.00001651
169. 33030925 c.889A>T p.S297C missense 0.00001651
170. 33030900 c.914G>A p.G305E missense 0.00001651
171. 33031954 c.236G>A p.R79Q missense 0.00001651
172. 32974456 c.1979A>G p.Q660R missense 0.00001650
173. 32994076 c.1574T>G p.L525R missense 0.00001650
174. 32974451 c.1984G>A p.V662M missense 0.00001650
175. 32974345 c.2090A>G p.Y697C missense 0.00001649
176. 32977074 c.1711G>A p.D571N missense 0.00001649
177. 32974358 c.2077A>G p.S693G missense 0.00001649
178. 32955326 c.2299+11A>G splice site 0.00001649
179. 33003897 c.1181T>A p.L394H missense 0.00001649
180. 32977077 c.1708G>A p.A570T missense 0.00001649
181. 33031132 c.682G>A p.D228N missense 0.00001649
182. 33031227 c.587G>A p.R196H missense 0.00001648
183. 33031298 c.516C>A p.S172R missense 0.00001648
184. 33031239 c.575C>T p.P192L missense 0.00001648
185. 33031892 c.298G>A p.G100S missense 0.00001648
186. 33031281 c.533T>C p.L178P missense 0.00001648
187. 33031260 c.554G>A p.R185Q missense 0.00001648
188. 33031916 c.274T>G p.L92V missense 0.00001648
189. 32974364 c.2071G>A p.A691T missense 0.00001648
190. 32945393 c.2611C>T p.R871W missense 0.00001648
191. 33031246 c.568G>C p.V190L missense 0.00001648
192. 32955351 c.2285T>C p.L762P missense 0.00001648
193. 33031877 c.313C>G p.P105A missense 0.00001648
194. 33031261 c.553C>T p.R185W missense 0.00001648
195. 32955364 c.2272C>T p.R758W missense 0.00001648
196. 33031212 c.602G>A p.G201E missense 0.00001648
197. 32994037 c.1613G>A p.W538X nonsense 0.00001648
198. 32975431 c.1941T>G p.C647W missense 0.00001648
199. 32974380 c.2055G>A p.M685I missense 0.00001648
200. 33031252 c.562C>G p.L188V missense 0.00001648
201. 32945368 c.2636T>C p.L879P missense 0.00001648
202. 32975446 c.1926_1928delCAA inframe 0.00001648
203. 33031228 c.586C>T p.R196C missense 0.00001648
204. 32975483 c.1889T>C p.I630T missense 0.00001648
205. 32993995 c.1655T>G p.F552C missense 0.00001647
206. 32994008 c.1642G>T p.G548C missense 0.00001647
207. 33021983 c.1048G>A p.E350K missense 0.00001647
208. 33003762 c.1316T>G p.V439G missense 0.00001647
209. 33021887 c.1144T>C p.F382L missense 0.00001647
210. 32945595 c.2560C>T p.H854Y missense 0.00001647
211. 33003841 c.1237C>T p.R413X nonsense 0.00001647
212. 33021904 c.1127T>C p.F376S missense 0.00001647
213. 33049535 c.131G>A p.S44N missense 0.00001632
214. 32996142 c.1484G>A p.G495E missense 0.00001556
215. 32996146 c.1480T>G p.S494A missense 0.00001458
216. 33049437 c.223+6T>A splice site 0.00001306
217. 33049444 c.222C>G p.N74K missense 0.00001238
218. 33049508 c.158G>A p.S53N missense 0.00001195
219. 33049457 c.209G>C p.S70T missense 0.00001134
220. 33049458 c.208A>G p.S70G missense 0.00001126
221. 33049499 c.167T>C p.I56T missense 0.00001110
222. 32996167 c.1459C>A p.Q487K missense 0.00000981
223. 32996172 c.1454G>T p.G485V missense 0.00000936
224. 32949236 c.2300-4G>A splice site 0.00000898
225. 33030776 c.1034+4A>G splice site 0.00000877
226. 33031483 c.337-6G>A splice site 0.00000874
227. 33030786 c.1028A>G p.Q343R missense 0.00000861
228. 33031455 c.359A>C p.E120A missense 0.00000857
229. 33031449 c.365G>A p.R122H missense 0.00000855
230. 33031450 c.364C>T p.R122C missense 0.00000855
231. 33031449 c.365G>T p.R122L missense 0.00000855
232. 33031445 c.369G>A p.W123X nonsense 0.00000853
233. 33030801 c.1013C>A p.T338N missense 0.00000844
234. 32996217 c.1409G>C p.G470A missense 0.00000836
235. 32949225 c.2307A>T p.E769D missense 0.00000834
236. 32996246 c.1380C>T splice site 0.00000833
237. 32996239 c.1387G>A p.V463I missense 0.00000833
238. 33031405 c.409G>A p.E137K missense 0.00000832
239. 33030829 c.985A>C p.S329R missense 0.00000832
240. 32996251 c.1379-4A>G splice site 0.00000832
241. 33030837 c.977C>A p.A326E missense 0.00000831
242. 32949221 c.2311C>G p.L771V missense 0.00000831
243. 33030834 c.980G>A p.G327E missense 0.00000831
244. 32994140 c.1511-1G>T essential splice site 0.00000830
245. 32994133 c.1517T>C p.L506P missense 0.00000830
246. 32994139 c.1511G>T p.G504V missense 0.00000830
247. 33030838 c.976G>A p.A326T missense 0.00000830
248. 33030843 c.971C>G p.A324G missense 0.00000829
249. 33031065 c.749G>T p.R250L missense 0.00000828
250. 33003910 c.1171-3C>T splice site 0.00000828
251. 32994095 c.1555A>G p.M519V missense 0.00000827
252. 33031002 c.812T>G p.V271G missense 0.00000827
253. 33031960 c.230T>A p.L77H missense 0.00000827
254. 32994103 c.1547A>C p.K516T missense 0.00000827
255. 33030864 c.950C>T p.A317V missense 0.00000827
256. 32974469 c.1972-6G>T splice site 0.00000826
257. 33003698 c.1378+2T>A essential splice site 0.00000826
258. 33030968 c.846G>C p.Q282H missense 0.00000826
259. 33030997 c.817C>G p.P273A missense 0.00000826
260. 33030880 c.934T>C p.S312P missense 0.00000826
261. 33031012 c.802G>T p.V268F missense 0.00000826
262. 33030952 c.862T>C p.S288P missense 0.00000826
263. 32994089 c.1561A>G p.T521A missense 0.00000826
264. 33031021 c.793G>A p.G265R missense 0.00000826
265. 33030984 c.830T>C p.L277P missense 0.00000826
266. 33030955 c.859A>G p.R287G missense 0.00000826
267. 33030889 c.925G>A p.A309T missense 0.00000826
268. 32977097 c.1689-1G>C essential splice site 0.00000826
269. 32994091 c.1559T>A p.I520K missense 0.00000826
270. 33031095 c.719T>C p.L240P missense 0.00000826
271. 33030928 c.886C>A p.H296N missense 0.00000826
272. 33031084 c.730C>T p.P244S missense 0.00000826
273. 33030997 c.817C>T p.P273S missense 0.00000826
274. 33030964 c.850A>G p.R284G missense 0.00000826
275. 33030918 c.896G>A p.R299H missense 0.00000826
276. 33031059 c.755T>C p.M252T missense 0.00000826
277. 33031009 c.805G>A p.G269R missense 0.00000826
278. 33030941 c.873T>A p.H291Q missense 0.00000826
279. 33031353 c.461G>A p.S154N missense 0.00000825
280. 32994083 c.1567G>C p.A523P missense 0.00000825
281. 32975562 c.1810A>G p.T604A missense 0.00000825
282. 32949197 c.2335C>G p.P779A missense 0.00000825
283. 33031846 c.336+8A>G splice site 0.00000825
284. 33003711 c.1367A>G p.K456R missense 0.00000825
285. 32974455 c.1980G>C p.Q660H missense 0.00000825
286. 33031357 c.457G>A p.D153N missense 0.00000825
287. 32976976 c.1806+3A>G splice site 0.00000825
288. 32977086 c.1699T>A p.S567T missense 0.00000825
289. 32974457 c.1978C>T p.Q660X nonsense 0.00000825
290. 33031053 c.761A>C p.N254T missense 0.00000825
291. 33031364 c.450T>G p.I150M missense 0.00000825
292. 32975555 c.1817A>G p.N606S missense 0.00000825
293. 33031940 c.250C>T p.P84S missense 0.00000825
294. 33031347 c.467C>T p.P156L missense 0.00000825
295. 32949196 c.2336C>G p.P779R missense 0.00000825
296. 32975551 c.1821dupT frameshift 0.00000825
297. 33003895 c.1183C>T p.R395C missense 0.00000825
298. 32974314 c.2121G>T p.Q707H missense 0.00000824
299. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824
300. 33031258 c.556G>A p.A186T missense 0.00000824
301. 33021940 c.1091A>T p.H364L missense 0.00000824
302. 32955364 c.2272C>G p.R758G missense 0.00000824
303. 33031158 c.656G>A p.R219K missense 0.00000824
304. 33003879 c.1199T>A p.L400H missense 0.00000824
305. 33003757 c.1321C>T p.R441W missense 0.00000824
306. 32975535 c.1837A>C p.N613H missense 0.00000824
307. 32975420 c.1952G>A p.R651Q missense 0.00000824
308. 32945653 c.2502C>G p.N834K missense 0.00000824
309. 33031915 c.275T>C p.L92S missense 0.00000824
310. 32974361 c.2074A>T p.K692X nonsense 0.00000824
311. 32945376 c.2628C>A p.Y876X nonsense 0.00000824
312. 32945430 c.2578-4A>C splice site 0.00000824
313. 32994028 c.1622G>T p.G541V missense 0.00000824
314. 32955486 c.2150C>G p.P717R missense 0.00000824
315. 32977031 c.1754C>T p.S585L missense 0.00000824
316. 32955346 c.2290A>C p.N764H missense 0.00000824
317. 32975468 c.1904G>A p.R635Q missense 0.00000824
318. 32975421 c.1951C>T p.R651X nonsense 0.00000824
319. 33021901 c.1130T>C p.I377T missense 0.00000824
320. 33021869 c.1162C>T p.R388W missense 0.00000824
321. 32949110 c.2422C>G p.Q808E missense 0.00000824
322. 33031870 c.320C>T p.T107I missense 0.00000824
323. 32945411 c.2593A>G p.T865A missense 0.00000824
324. 32977076 c.1709C>T p.A570V missense 0.00000824
325. 32974321 c.2114C>T p.A705V missense 0.00000824
326. 33031931 c.259G>C p.V87L missense 0.00000824
327. 32955403 c.2233G>T p.V745L missense 0.00000824
328. 33021950 c.1081G>C p.E361Q missense 0.00000824
329. 32955448 c.2188G>A p.G730S missense 0.00000824
330. 33031180 c.634C>T p.R212C missense 0.00000824
331. 32976987 c.1798G>A p.D600N missense 0.00000824
332. 32975538 c.1834C>T p.H612Y missense 0.00000824
333. 32949179 c.2353A>G p.T785A missense 0.00000824
334. 32975446 c.1926C>A p.N642K missense 0.00000824
335. 32975424 c.1948A>G p.S650G missense 0.00000824
336. 32945654 c.2501A>G p.N834S missense 0.00000824
337. 33031151 c.663C>A p.Y221X nonsense 0.00000824
338. 32949044 c.2488G>C p.A830P missense 0.00000824
339. 32945431 c.2578-5C>T splice site 0.00000824
340. 33031332 c.482A>G p.Y161C missense 0.00000824
341. 32994051 c.1599C>G p.I533M missense 0.00000824
342. 32955487 c.2149C>T p.P717S missense 0.00000824
343. 33021917 c.1114G>A p.A372T missense 0.00000824
344. 33021868 c.1163G>A p.R388Q missense 0.00000824
345. 32977035 c.1750G>C p.D584H missense 0.00000824
346. 33003727 c.1351G>A p.D451N missense 0.00000824
347. 32975496 c.1876T>A p.Y626N missense 0.00000824
348. 32949116 c.2416A>G p.S806G missense 0.00000824
349. 32945585 c.2570A>T p.Y857F missense 0.00000824
350. 33031897 c.293T>C p.V98A missense 0.00000824
351. 32945628 c.2527C>T p.L843F missense 0.00000824
352. 32974324 c.2111G>A p.G704E missense 0.00000824
353. 32945651 c.2504A>G p.K835R missense 0.00000824
354. 33031272 c.542A>C p.Q181P missense 0.00000824
355. 32994013 c.1637C>G p.A546G missense 0.00000824
356. 32955466 c.2170G>A p.V724I missense 0.00000824
357. 32955425 c.2211G>A p.M737I missense 0.00000824
358. 33031284 c.530C>T p.T177I missense 0.00000824
359. 32955378 c.2258T>A p.L753Q missense 0.00000824
360. 32949184 c.2348C>T p.P783L missense 0.00000824
361. 32975529 c.1843T>A p.S615T missense 0.00000824
362. 33003894 c.1184G>C p.R395P missense 0.00000824
363. 32976990 c.1795C>A p.P599T missense 0.00000824
364. 33003786 c.1292T>C p.L431S missense 0.00000824
365. 32975453 c.1919A>G p.D640G missense 0.00000824
366. 32945660 c.2495C>T p.A832V missense 0.00000824
367. 33031864 c.326A>T p.D109V missense 0.00000824
368. 32974429 c.2006G>T p.S669I missense 0.00000824
369. 32945398 c.2606A>C p.N869T missense 0.00000824
370. 33031877 c.313C>T p.P105S missense 0.00000824
371. 32955343 c.2293G>C p.E765Q missense 0.00000824
372. 32955414 c.2222G>T p.G741V missense 0.00000824
373. 32945433 c.2578-7T>G splice site 0.00000824
374. 33021936 c.1095G>T p.M365I missense 0.00000824
375. 32993972 c.1678G>A p.G560R missense 0.00000824
376. 32977061 c.1724C>G p.A575G missense 0.00000824
377. 33003816 c.1262A>G p.N421S missense 0.00000824
378. 32975511 c.1861G>A p.E621K missense 0.00000824
379. 33021968 c.1063C>T p.R355X nonsense 0.00000824
380. 32945648 c.2507C>A p.A836E missense 0.00000824
381. 32993964 c.1686A>G splice site 0.00000824
382. 32974360 c.2075A>G p.K692R missense 0.00000824
383. 33031273 c.541C>G p.Q181E missense 0.00000824
384. 33021978 c.1053G>T p.M351I missense 0.00000824
385. 32994017 c.1633A>G p.K545E missense 0.00000824
386. 32955468 c.2168C>T p.T723I missense 0.00000824
387. 32955430 c.2206A>G p.K736E missense 0.00000824
388. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824
389. 33031293 c.521C>T p.A174V missense 0.00000824
390. 32976997 c.1788T>G p.D596E missense 0.00000824
391. 32955345 c.2291A>G p.N764S missense 0.00000824
392. 32975469 c.1903C>T p.R635W missense 0.00000824
393. 33031216 c.598G>A p.V200M missense 0.00000824
394. 32949104 c.2428G>A p.A810T missense 0.00000824
395. 33031865 c.325G>A p.D109N missense 0.00000824
396. 32974386 c.2049A>G p.I683M missense 0.00000824
397. 32945401 c.2603T>A p.V868D missense 0.00000824
398. 33031891 c.299G>A p.G100D 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.