PKP2 missense variants in ExAC

PKP2 gene summary
PKP2 variants in DCM

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