PKP2 non-truncating variants in ExAC


The table below lists the PKP2 non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 33030829 c.985A>T p.S329C missense 0.00009981
2. 33030861 c.953A>C p.H318P missense 0.00009923
3. 33031084 c.730C>G p.P244A missense 0.00009910
4. 33031266 c.548G>A p.S183N missense 0.00009887
5. 33031089 c.725C>T p.T242M missense 0.00009084
6. 32996161 c.1465G>A p.G489R missense 0.00008684
7. 33049610 c.56A>C p.Q19P missense 0.00008414
8. 32949229 c.2303A>C p.K768T missense 0.00008410
9. 33003847 c.1231G>A p.V411I missense 0.00008237
10. 32949050 c.2482G>A p.G828S missense 0.00008237
11. 32996164 c.1462G>A p.G488S missense 0.00008059
12. 33031408 c.406G>T p.V136L missense 0.00007501
13. 33031400 c.414A>T p.E138D missense 0.00007474
14. 33030850 c.964G>T p.G322C missense 0.00007451
15. 33030919 c.895C>T p.R299C missense 0.00007431
16. 32945663 c.2492A>G p.Y831C missense 0.00007415
17. 33031203 c.611G>A p.R204H missense 0.00007414
18. 33031341 c.473G>A p.R158K missense 0.00006597
19. 32974306 c.2129C>T p.T710M missense 0.00006597
20. 32975500 c.1872G>T p.E624D missense 0.00006593
21. 32974415 c.2020G>A p.V674M missense 0.00006593
22. 32974414 c.2021T>C p.V674A missense 0.00006592
23. 33031255 c.559G>A p.A187T missense 0.00006591
24. 33030873 c.941G>A p.G314E missense 0.00005784
25. 33030915 c.899C>A p.T300K missense 0.00005780
26. 32993981 c.1669A>G p.N557D missense 0.00005766
27. 32949068 c.2464A>G p.I822V missense 0.00005766
28. 32945603 c.2552C>T p.T851M missense 0.00005766
29. 32945392 c.2612G>A p.R871Q missense 0.00005766
30. 32955432 c.2204G>A p.R735Q missense 0.00005766
31. 32996139 c.1487T>A p.V496D missense 0.00005050
32. 33030886 c.928G>A p.V310M missense 0.00004955
33. 32949200 c.2332A>G p.I778V missense 0.00004949
34. 32955363 c.2273G>A p.R758Q missense 0.00004943
35. 32949098 c.2434G>A p.D812N missense 0.00004942
36. 32945631 c.2524G>A p.V842I missense 0.00004942
37. 32996128 c.1498C>T p.P500S missense 0.00004734
38. 32996241 c.1385C>G p.T462R missense 0.00004164
39. 33030831 c.983G>C p.G328A missense 0.00004159
40. 33030874 c.940G>A p.G314R missense 0.00004131
41. 33031101 c.713C>T p.P238L missense 0.00004129
42. 33031026 c.788C>T p.T263M missense 0.00004129
43. 32975561 c.1811C>T p.T604M missense 0.00004126
44. 32994035 c.1615C>G p.P539A missense 0.00004119
45. 32993978 c.1672G>A p.V558I missense 0.00004119
46. 33021962 c.1069G>A p.V357M missense 0.00004119
47. 33031204 c.610C>T p.R204C missense 0.00004119
48. 32949101 c.2431C>T p.R811C missense 0.00004118
49. 33030834 c.980G>T p.G327V missense 0.00003325
50. 33030976 c.838G>A p.V280I missense 0.00003305
51. 33031066 c.748C>T p.R250C missense 0.00003305
52. 33030876 c.938G>A p.S313N missense 0.00003304
53. 33031126 c.688G>A p.V230I missense 0.00003300
54. 33031350 c.464G>C p.S155T missense 0.00003299
55. 32974355 c.2080G>A p.V694I missense 0.00003297
56. 32975444 c.1928A>G p.K643R missense 0.00003297
57. 33031902 c.288T>G p.D96E missense 0.00003296
58. 32974373 c.2062T>C p.S688P missense 0.00003296
59. 33021950 c.1081G>A p.E361K missense 0.00003295
60. 32993999 c.1651G>A p.D551N missense 0.00003295
61. 32949166 c.2366T>A p.I789N missense 0.00003295
62. 33021986 c.1045A>G p.M349V missense 0.00003295
63. 32945618 c.2537C>T p.S846F missense 0.00003295
64. 32993990 c.1660A>G p.I554V missense 0.00003295
65. 33049472 c.194C>T p.A65V missense 0.00003207
66. 33049530 c.136C>A p.R46S missense 0.00003098
67. 33049589 c.77A>G p.D26G missense 0.00003089
68. 33049588 c.78C>A p.D26E missense 0.00003080
69. 33049520 c.146A>G p.Q49R missense 0.00002829
70. 33030790 c.1024T>C p.S342P missense 0.00002566
71. 33030804 c.1010G>A p.S337N missense 0.00002526
72. 33049443 c.223G>A p.G75R missense 0.00002480
73. 32994092 c.1558A>G p.I520V missense 0.00002479
74. 33031030 c.784C>A p.L262M missense 0.00002477
75. 32974301 c.2134G>A p.G712R missense 0.00002475
76. 32974441 c.1994C>G p.P665R missense 0.00002474
77. 32994067 c.1583C>T p.T528M missense 0.00002474
78. 32974351 c.2084G>A p.R695H missense 0.00002473
79. 32994062 c.1588A>G p.N530D missense 0.00002473
80. 32975415 c.1957A>G p.R653G missense 0.00002473
81. 32975484 c.1888A>G p.I630V missense 0.00002472
82. 33003888 c.1190T>A p.I397N missense 0.00002472
83. 32949166 c.2366T>C p.I789T missense 0.00002472
84. 33031194 c.620C>G p.T207S missense 0.00002472
85. 33031209 c.605T>C p.V202A missense 0.00002471
86. 32949100 c.2432G>A p.R811H missense 0.00002471
87. 32945612 c.2543G>C p.W848S missense 0.00002471
88. 33021967 c.1064G>A p.R355Q missense 0.00002471
89. 32949083 c.2449G>A p.G817R missense 0.00002471
90. 33003756 c.1322G>A p.R441Q missense 0.00002471
91. 32996166 c.1460A>G p.Q487R missense 0.00002008
92. 32996134 c.1492G>A p.D498N missense 0.00002006
93. 33049556 c.110A>G p.K37R missense 0.00001943
94. 32996184 c.1442C>T p.P481L missense 0.00001776
95. 32996202 c.1424T>G p.V475G missense 0.00001692
96. 32996211 c.1415C>T p.P472L missense 0.00001677
97. 32996242 c.1384A>G p.T462A missense 0.00001665
98. 33030832 c.982G>A p.G328R missense 0.00001663
99. 33030840 c.974C>T p.A325V missense 0.00001660
100. 33030843 c.971C>T p.A324V missense 0.00001659
101. 33030850 c.964G>A p.G322S missense 0.00001656
102. 33031074 c.740G>A p.G247E missense 0.00001656
103. 33030960 c.854C>T p.A285V missense 0.00001652
104. 33030921 c.893C>A p.T298N missense 0.00001651
105. 33030900 c.914G>A p.G305E missense 0.00001651
106. 33030925 c.889A>T p.S297C missense 0.00001651
107. 33031954 c.236G>A p.R79Q missense 0.00001651
108. 32994076 c.1574T>G p.L525R missense 0.00001650
109. 32974456 c.1979A>G p.Q660R missense 0.00001650
110. 32974451 c.1984G>A p.V662M missense 0.00001650
111. 32974345 c.2090A>G p.Y697C missense 0.00001649
112. 33003897 c.1181T>A p.L394H missense 0.00001649
113. 33031132 c.682G>A p.D228N missense 0.00001649
114. 32974358 c.2077A>G p.S693G missense 0.00001649
115. 32977077 c.1708G>A p.A570T missense 0.00001649
116. 32977074 c.1711G>A p.D571N missense 0.00001649
117. 33031877 c.313C>G p.P105A missense 0.00001648
118. 33031260 c.554G>A p.R185Q missense 0.00001648
119. 33031246 c.568G>C p.V190L missense 0.00001648
120. 33031212 c.602G>A p.G201E missense 0.00001648
121. 32974364 c.2071G>A p.A691T missense 0.00001648
122. 33031261 c.553C>T p.R185W missense 0.00001648
123. 33031252 c.562C>G p.L188V missense 0.00001648
124. 32975446 c.1926_1928delCAA inframe 0.00001648
125. 33031228 c.586C>T p.R196C missense 0.00001648
126. 32975431 c.1941T>G p.C647W missense 0.00001648
127. 33031892 c.298G>A p.G100S missense 0.00001648
128. 32974380 c.2055G>A p.M685I missense 0.00001648
129. 32945368 c.2636T>C p.L879P missense 0.00001648
130. 33031227 c.587G>A p.R196H missense 0.00001648
131. 32955351 c.2285T>C p.L762P missense 0.00001648
132. 33031916 c.274T>G p.L92V missense 0.00001648
133. 33031298 c.516C>A p.S172R missense 0.00001648
134. 33031239 c.575C>T p.P192L missense 0.00001648
135. 32975483 c.1889T>C p.I630T missense 0.00001648
136. 32945393 c.2611C>T p.R871W missense 0.00001648
137. 33031281 c.533T>C p.L178P missense 0.00001648
138. 32955364 c.2272C>T p.R758W missense 0.00001648
139. 32945595 c.2560C>T p.H854Y missense 0.00001647
140. 33021904 c.1127T>C p.F376S missense 0.00001647
141. 33003762 c.1316T>G p.V439G missense 0.00001647
142. 32994008 c.1642G>T p.G548C missense 0.00001647
143. 32993995 c.1655T>G p.F552C missense 0.00001647
144. 33021983 c.1048G>A p.E350K missense 0.00001647
145. 33021887 c.1144T>C p.F382L missense 0.00001647
146. 33049535 c.131G>A p.S44N missense 0.00001632
147. 32996142 c.1484G>A p.G495E missense 0.00001556
148. 32996146 c.1480T>G p.S494A missense 0.00001458
149. 33049444 c.222C>G p.N74K missense 0.00001238
150. 33049508 c.158G>A p.S53N missense 0.00001195
151. 33049457 c.209G>C p.S70T missense 0.00001134
152. 33049458 c.208A>G p.S70G missense 0.00001126
153. 33049499 c.167T>C p.I56T missense 0.00001110
154. 32996167 c.1459C>A p.Q487K missense 0.00000981
155. 32996172 c.1454G>T p.G485V missense 0.00000936
156. 33030786 c.1028A>G p.Q343R missense 0.00000861
157. 33031455 c.359A>C p.E120A missense 0.00000857
158. 33031449 c.365G>T p.R122L missense 0.00000855
159. 33031449 c.365G>A p.R122H missense 0.00000855
160. 33031450 c.364C>T p.R122C missense 0.00000855
161. 33030801 c.1013C>A p.T338N missense 0.00000844
162. 32996217 c.1409G>C p.G470A missense 0.00000836
163. 32949225 c.2307A>T p.E769D missense 0.00000834
164. 32996239 c.1387G>A p.V463I missense 0.00000833
165. 33030829 c.985A>C p.S329R missense 0.00000832
166. 33031405 c.409G>A p.E137K missense 0.00000832
167. 33030834 c.980G>A p.G327E missense 0.00000831
168. 32949221 c.2311C>G p.L771V missense 0.00000831
169. 33030837 c.977C>A p.A326E missense 0.00000831
170. 32994139 c.1511G>T p.G504V missense 0.00000830
171. 33030838 c.976G>A p.A326T missense 0.00000830
172. 32994133 c.1517T>C p.L506P missense 0.00000830
173. 33030843 c.971C>G p.A324G missense 0.00000829
174. 33031065 c.749G>T p.R250L missense 0.00000828
175. 32994103 c.1547A>C p.K516T missense 0.00000827
176. 33031002 c.812T>G p.V271G missense 0.00000827
177. 33030864 c.950C>T p.A317V missense 0.00000827
178. 33031960 c.230T>A p.L77H missense 0.00000827
179. 32994095 c.1555A>G p.M519V missense 0.00000827
180. 33030968 c.846G>C p.Q282H missense 0.00000826
181. 33031012 c.802G>T p.V268F missense 0.00000826
182. 33030997 c.817C>G p.P273A missense 0.00000826
183. 33030941 c.873T>A p.H291Q missense 0.00000826
184. 33031021 c.793G>A p.G265R missense 0.00000826
185. 33030880 c.934T>C p.S312P missense 0.00000826
186. 32994091 c.1559T>A p.I520K missense 0.00000826
187. 33030952 c.862T>C p.S288P missense 0.00000826
188. 33031084 c.730C>T p.P244S missense 0.00000826
189. 33030984 c.830T>C p.L277P missense 0.00000826
190. 33030889 c.925G>A p.A309T missense 0.00000826
191. 33031095 c.719T>C p.L240P missense 0.00000826
192. 33031059 c.755T>C p.M252T missense 0.00000826
193. 33030955 c.859A>G p.R287G missense 0.00000826
194. 33030928 c.886C>A p.H296N missense 0.00000826
195. 33031009 c.805G>A p.G269R missense 0.00000826
196. 33030997 c.817C>T p.P273S missense 0.00000826
197. 33030918 c.896G>A p.R299H missense 0.00000826
198. 33030964 c.850A>G p.R284G missense 0.00000826
199. 32994089 c.1561A>G p.T521A missense 0.00000826
200. 33003895 c.1183C>T p.R395C missense 0.00000825
201. 33031357 c.457G>A p.D153N missense 0.00000825
202. 32949196 c.2336C>G p.P779R missense 0.00000825
203. 32974455 c.1980G>C p.Q660H missense 0.00000825
204. 33031940 c.250C>T p.P84S missense 0.00000825
205. 32977086 c.1699T>A p.S567T missense 0.00000825
206. 33031053 c.761A>C p.N254T missense 0.00000825
207. 33003711 c.1367A>G p.K456R missense 0.00000825
208. 33031347 c.467C>T p.P156L missense 0.00000825
209. 33031364 c.450T>G p.I150M missense 0.00000825
210. 32949197 c.2335C>G p.P779A missense 0.00000825
211. 32994083 c.1567G>C p.A523P missense 0.00000825
212. 32975555 c.1817A>G p.N606S missense 0.00000825
213. 33031353 c.461G>A p.S154N missense 0.00000825
214. 32975562 c.1810A>G p.T604A missense 0.00000825
215. 33003879 c.1199T>A p.L400H missense 0.00000824
216. 32975535 c.1837A>C p.N613H missense 0.00000824
217. 32949116 c.2416A>G p.S806G missense 0.00000824
218. 32975469 c.1903C>T p.R635W missense 0.00000824
219. 33031180 c.634C>T p.R212C missense 0.00000824
220. 32945585 c.2570A>T p.Y857F missense 0.00000824
221. 32975420 c.1952G>A p.R651Q missense 0.00000824
222. 32945628 c.2527C>T p.L843F missense 0.00000824
223. 33031864 c.326A>T p.D109V missense 0.00000824
224. 32974360 c.2075A>G p.K692R missense 0.00000824
225. 33031877 c.313C>T p.P105S missense 0.00000824
226. 32994028 c.1622G>T p.G541V missense 0.00000824
227. 32955468 c.2168C>T p.T723I missense 0.00000824
228. 32955430 c.2206A>G p.K736E missense 0.00000824
229. 33031332 c.482A>G p.Y161C missense 0.00000824
230. 33021901 c.1130T>C p.I377T missense 0.00000824
231. 32977031 c.1754C>T p.S585L missense 0.00000824
232. 32955345 c.2291A>G p.N764S missense 0.00000824
233. 32976987 c.1798G>A p.D600N missense 0.00000824
234. 33003757 c.1321C>T p.R441W missense 0.00000824
235. 32975446 c.1926C>A p.N642K missense 0.00000824
236. 32945660 c.2495C>T p.A832V missense 0.00000824
237. 32945398 c.2606A>C p.N869T missense 0.00000824
238. 33031931 c.259G>C p.V87L missense 0.00000824
239. 32975529 c.1843T>A p.S615T missense 0.00000824
240. 32974314 c.2121G>T p.Q707H missense 0.00000824
241. 32977076 c.1709C>T p.A570V missense 0.00000824
242. 33031284 c.530C>T p.T177I missense 0.00000824
243. 33021950 c.1081G>C p.E361Q missense 0.00000824
244. 32955364 c.2272C>G p.R758G missense 0.00000824
245. 32975468 c.1904G>A p.R635Q missense 0.00000824
246. 32975538 c.1834C>T p.H612Y missense 0.00000824
247. 32955343 c.2293G>C p.E765Q missense 0.00000824
248. 32975424 c.1948A>G p.S650G missense 0.00000824
249. 32945648 c.2507C>A p.A836E missense 0.00000824
250. 33031891 c.299G>A p.G100D missense 0.00000824
251. 32994051 c.1599C>G p.I533M missense 0.00000824
252. 32955486 c.2150C>G p.P717R missense 0.00000824
253. 32955448 c.2188G>A p.G730S missense 0.00000824
254. 33031272 c.542A>C p.Q181P missense 0.00000824
255. 33021917 c.1114G>A p.A372T missense 0.00000824
256. 32977035 c.1750G>C p.D584H missense 0.00000824
257. 32955346 c.2290A>C p.N764H missense 0.00000824
258. 32975496 c.1876T>A p.Y626N missense 0.00000824
259. 32949104 c.2428G>A p.A810T missense 0.00000824
260. 32975453 c.1919A>G p.D640G missense 0.00000824
261. 33031915 c.275T>C p.L92S missense 0.00000824
262. 32974429 c.2006G>T p.S669I missense 0.00000824
263. 32945401 c.2603T>A p.V868D missense 0.00000824
264. 32974321 c.2114C>T p.A705V missense 0.00000824
265. 33031865 c.325G>A p.D109N missense 0.00000824
266. 33003786 c.1292T>C p.L431S missense 0.00000824
267. 33031293 c.521C>T p.A174V missense 0.00000824
268. 32994013 c.1637C>G p.A546G missense 0.00000824
269. 32993972 c.1678G>A p.G560R missense 0.00000824
270. 32955403 c.2233G>T p.V745L missense 0.00000824
271. 33021868 c.1163G>A p.R388Q missense 0.00000824
272. 32976990 c.1795C>A p.P599T missense 0.00000824
273. 33003894 c.1184G>C p.R395P missense 0.00000824
274. 32949179 c.2353A>G p.T785A missense 0.00000824
275. 32945653 c.2502C>G p.N834K missense 0.00000824
276. 33003727 c.1351G>A p.D451N missense 0.00000824
277. 32955487 c.2149C>T p.P717S missense 0.00000824
278. 33031258 c.556G>A p.A186T missense 0.00000824
279. 33021936 c.1095G>T p.M365I missense 0.00000824
280. 32977061 c.1724C>G p.A575G missense 0.00000824
281. 32955414 c.2222G>T p.G741V missense 0.00000824
282. 33031273 c.541C>G p.Q181E missense 0.00000824
283. 33031158 c.656G>A p.R219K missense 0.00000824
284. 33003816 c.1262A>G p.N421S missense 0.00000824
285. 32975511 c.1861G>A p.E621K missense 0.00000824
286. 32949110 c.2422C>G p.Q808E missense 0.00000824
287. 32945411 c.2593A>G p.T865A missense 0.00000824
288. 32974324 c.2111G>A p.G704E missense 0.00000824
289. 33031870 c.320C>T p.T107I missense 0.00000824
290. 32955425 c.2211G>A p.M737I missense 0.00000824
291. 32994017 c.1633A>G p.K545E missense 0.00000824
292. 32955466 c.2170G>A p.V724I missense 0.00000824
293. 32955378 c.2258T>A p.L753Q missense 0.00000824
294. 32976997 c.1788T>G p.D596E missense 0.00000824
295. 32949184 c.2348C>T p.P783L missense 0.00000824
296. 33031216 c.598G>A p.V200M missense 0.00000824
297. 32949044 c.2488G>C p.A830P missense 0.00000824
298. 32945654 c.2501A>G p.N834S missense 0.00000824
299. 33021869 c.1162C>T p.R388W missense 0.00000824
300. 32945651 c.2504A>G p.K835R missense 0.00000824
301. 32974386 c.2049A>G p.I683M missense 0.00000824
302. 33031897 c.293T>C p.V98A missense 0.00000824
303. 33021978 c.1053G>T p.M351I missense 0.00000824
304. 33021940 c.1091A>T p.H364L 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.