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. 33003847 c.1231G>A p.V411I missense 0.00008237●●●●●●
52. 32949050 c.2482G>A p.G828S 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. 33031341 c.473G>A p.R158K missense 0.00006597●●●●●●
61. 32974306 c.2129C>T p.T710M 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. 32955432 c.2204G>A p.R735Q missense 0.00005766●●●●●●
69. 32945603 c.2552C>T p.T851M missense 0.00005766●●●●●●
70. 32949068 c.2464A>G p.I822V missense 0.00005766●●●●●●
71. 32993981 c.1669A>G p.N557D 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. 32949098 c.2434G>A p.D812N missense 0.00004942●●●●●●
78. 32945631 c.2524G>A p.V842I 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. 33031101 c.713C>T p.P238L missense 0.00004129●●●●●●
84. 33031026 c.788C>T p.T263M missense 0.00004129●●●●●●
85. 32975561 c.1811C>T p.T604M missense 0.00004126●●●●●●
86. 32993978 c.1672G>A p.V558I missense 0.00004119●●●●●●
87. 32994035 c.1615C>G p.P539A missense 0.00004119●●●●●●
88. 33021962 c.1069G>A p.V357M missense 0.00004119●●●●●●
89. 33031204 c.610C>T p.R204C missense 0.00004119●●●●●●
90. 32949101 c.2431C>T p.R811C missense 0.00004118●●●●●●
91. 33030834 c.980G>T p.G327V missense 0.00003325●●●●●●
92. 33031066 c.748C>T p.R250C missense 0.00003305●●●●●●
93. 33030976 c.838G>A p.V280I 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. 33021986 c.1045A>G p.M349V missense 0.00003295●●●●●●
102. 33021950 c.1081G>A p.E361K missense 0.00003295●●●●●●
103. 32945618 c.2537C>T p.S846F missense 0.00003295●●●●●●
104. 32949166 c.2366T>A p.I789N missense 0.00003295●●●●●●
105. 32993990 c.1660A>G p.I554V missense 0.00003295●●●●●●
106. 32993999 c.1651G>A p.D551N 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. 32974441 c.1994C>G p.P665R missense 0.00002474●●●●●●
119. 32994067 c.1583C>T p.T528M 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. 32949166 c.2366T>C p.I789T missense 0.00002472●●●●●●
124. 32975484 c.1888A>G p.I630V missense 0.00002472●●●●●●
125. 33003888 c.1190T>A p.I397N missense 0.00002472●●●●●●
126. 33031194 c.620C>G p.T207S missense 0.00002472●●●●●●
127. 32945612 c.2543G>C p.W848S missense 0.00002471●●●●●●
128. 33021967 c.1064G>A p.R355Q missense 0.00002471●●●●●●
129. 32949100 c.2432G>A p.R811H missense 0.00002471●●●●●●
130. 32949083 c.2449G>A p.G817R missense 0.00002471●●●●●●
131. 33003756 c.1322G>A p.R441Q missense 0.00002471●●●●●●
132. 33031209 c.605T>C p.V202A 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. 33030925 c.889A>T p.S297C missense 0.00001651●●●●●●
149. 33031954 c.236G>A p.R79Q missense 0.00001651●●●●●●
150. 32974451 c.1984G>A p.V662M missense 0.00001650●●●●●●
151. 32974456 c.1979A>G p.Q660R missense 0.00001650●●●●●●
152. 32994076 c.1574T>G p.L525R missense 0.00001650●●●●●●
153. 33031132 c.682G>A p.D228N missense 0.00001649●●●●●●
154. 32974358 c.2077A>G p.S693G missense 0.00001649●●●●●●
155. 32977077 c.1708G>A p.A570T missense 0.00001649●●●●●●
156. 32974345 c.2090A>G p.Y697C missense 0.00001649●●●●●●
157. 32977074 c.1711G>A p.D571N missense 0.00001649●●●●●●
158. 33003897 c.1181T>A p.L394H missense 0.00001649●●●●●●
159. 33031227 c.587G>A p.R196H missense 0.00001648●●●●●●
160. 33031877 c.313C>G p.P105A missense 0.00001648●●●●●●
161. 32955364 c.2272C>T p.R758W missense 0.00001648●●●●●●
162. 33031261 c.553C>T p.R185W missense 0.00001648●●●●●●
163. 32945368 c.2636T>C p.L879P missense 0.00001648●●●●●●
164. 32945393 c.2611C>T p.R871W missense 0.00001648●●●●●●
165. 32955351 c.2285T>C p.L762P missense 0.00001648●●●●●●
166. 32974364 c.2071G>A p.A691T missense 0.00001648●●●●●●
167. 32974380 c.2055G>A p.M685I missense 0.00001648●●●●●●
168. 32975431 c.1941T>G p.C647W missense 0.00001648●●●●●●
169. 32975483 c.1889T>C p.I630T missense 0.00001648●●●●●●
170. 33031212 c.602G>A p.G201E missense 0.00001648●●●●●●
171. 33031228 c.586C>T p.R196C missense 0.00001648●●●●●●
172. 33031239 c.575C>T p.P192L missense 0.00001648●●●●●●
173. 33031246 c.568G>C p.V190L missense 0.00001648●●●●●●
174. 33031252 c.562C>G p.L188V missense 0.00001648●●●●●●
175. 33031260 c.554G>A p.R185Q missense 0.00001648●●●●●●
176. 33031281 c.533T>C p.L178P missense 0.00001648●●●●●●
177. 33031298 c.516C>A p.S172R missense 0.00001648●●●●●●
178. 33031892 c.298G>A p.G100S missense 0.00001648●●●●●●
179. 33031916 c.274T>G p.L92V missense 0.00001648●●●●●●
180. 33021904 c.1127T>C p.F376S missense 0.00001647●●●●●●
181. 32993995 c.1655T>G p.F552C missense 0.00001647●●●●●●
182. 33021983 c.1048G>A p.E350K missense 0.00001647●●●●●●
183. 32994008 c.1642G>T p.G548C missense 0.00001647●●●●●●
184. 32945595 c.2560C>T p.H854Y missense 0.00001647●●●●●●
185. 33003762 c.1316T>G p.V439G missense 0.00001647●●●●●●
186. 33021887 c.1144T>C p.F382L 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. 33031449 c.365G>T p.R122L missense 0.00000855●●●●●●
201. 33031450 c.364C>T p.R122C 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. 32949221 c.2311C>G p.L771V missense 0.00000831●●●●●●
209. 33030834 c.980G>A p.G327E missense 0.00000831●●●●●●
210. 33030837 c.977C>A p.A326E missense 0.00000831●●●●●●
211. 33030838 c.976G>A p.A326T missense 0.00000830●●●●●●
212. 32994133 c.1517T>C p.L506P missense 0.00000830●●●●●●
213. 32994139 c.1511G>T p.G504V missense 0.00000830●●●●●●
214. 33030843 c.971C>G p.A324G missense 0.00000829●●●●●●
215. 33031065 c.749G>T p.R250L missense 0.00000828●●●●●●
216. 32994095 c.1555A>G p.M519V missense 0.00000827●●●●●●
217. 32994103 c.1547A>C p.K516T missense 0.00000827●●●●●●
218. 33030864 c.950C>T p.A317V missense 0.00000827●●●●●●
219. 33031002 c.812T>G p.V271G missense 0.00000827●●●●●●
220. 33031960 c.230T>A p.L77H missense 0.00000827●●●●●●
221. 33030968 c.846G>C p.Q282H missense 0.00000826●●●●●●
222. 33031095 c.719T>C p.L240P missense 0.00000826●●●●●●
223. 33031021 c.793G>A p.G265R missense 0.00000826●●●●●●
224. 32994089 c.1561A>G p.T521A missense 0.00000826●●●●●●
225. 32994091 c.1559T>A p.I520K missense 0.00000826●●●●●●
226. 33030880 c.934T>C p.S312P missense 0.00000826●●●●●●
227. 33030889 c.925G>A p.A309T missense 0.00000826●●●●●●
228. 33030918 c.896G>A p.R299H missense 0.00000826●●●●●●
229. 33030928 c.886C>A p.H296N missense 0.00000826●●●●●●
230. 33030941 c.873T>A p.H291Q missense 0.00000826●●●●●●
231. 33030952 c.862T>C p.S288P missense 0.00000826●●●●●●
232. 33030955 c.859A>G p.R287G missense 0.00000826●●●●●●
233. 33030964 c.850A>G p.R284G missense 0.00000826●●●●●●
234. 33030984 c.830T>C p.L277P missense 0.00000826●●●●●●
235. 33030997 c.817C>T p.P273S missense 0.00000826●●●●●●
236. 33030997 c.817C>G p.P273A missense 0.00000826●●●●●●
237. 33031009 c.805G>A p.G269R missense 0.00000826●●●●●●
238. 33031012 c.802G>T p.V268F missense 0.00000826●●●●●●
239. 33031059 c.755T>C p.M252T missense 0.00000826●●●●●●
240. 33031084 c.730C>T p.P244S missense 0.00000826●●●●●●
241. 32949196 c.2336C>G p.P779R missense 0.00000825●●●●●●
242. 32949197 c.2335C>G p.P779A missense 0.00000825●●●●●●
243. 32974455 c.1980G>C p.Q660H missense 0.00000825●●●●●●
244. 32975555 c.1817A>G p.N606S missense 0.00000825●●●●●●
245. 32975562 c.1810A>G p.T604A missense 0.00000825●●●●●●
246. 32977086 c.1699T>A p.S567T missense 0.00000825●●●●●●
247. 32994083 c.1567G>C p.A523P missense 0.00000825●●●●●●
248. 33003711 c.1367A>G p.K456R missense 0.00000825●●●●●●
249. 33003895 c.1183C>T p.R395C missense 0.00000825●●●●●●
250. 33031053 c.761A>C p.N254T missense 0.00000825●●●●●●
251. 33031347 c.467C>T p.P156L missense 0.00000825●●●●●●
252. 33031353 c.461G>A p.S154N missense 0.00000825●●●●●●
253. 33031357 c.457G>A p.D153N missense 0.00000825●●●●●●
254. 33031364 c.450T>G p.I150M missense 0.00000825●●●●●●
255. 33031940 c.250C>T p.P84S missense 0.00000825●●●●●●
256. 33031931 c.259G>C p.V87L missense 0.00000824●●●●●●
257. 33021869 c.1162C>T p.R388W missense 0.00000824●●●●●●
258. 32975469 c.1903C>T p.R635W missense 0.00000824●●●●●●
259. 32955378 c.2258T>A p.L753Q missense 0.00000824●●●●●●
260. 32949044 c.2488G>C p.A830P missense 0.00000824●●●●●●
261. 32955414 c.2222G>T p.G741V missense 0.00000824●●●●●●
262. 32977076 c.1709C>T p.A570V missense 0.00000824●●●●●●
263. 33003786 c.1292T>C p.L431S missense 0.00000824●●●●●●
264. 32975529 c.1843T>A p.S615T missense 0.00000824●●●●●●
265. 32945651 c.2504A>G p.K835R missense 0.00000824●●●●●●
266. 32955343 c.2293G>C p.E765Q missense 0.00000824●●●●●●
267. 33031216 c.598G>A p.V200M missense 0.00000824●●●●●●
268. 32975468 c.1904G>A p.R635Q missense 0.00000824●●●●●●
269. 32945398 c.2606A>C p.N869T missense 0.00000824●●●●●●
270. 32945401 c.2603T>A p.V868D missense 0.00000824●●●●●●
271. 32945411 c.2593A>G p.T865A missense 0.00000824●●●●●●
272. 32945585 c.2570A>T p.Y857F missense 0.00000824●●●●●●
273. 32945628 c.2527C>T p.L843F missense 0.00000824●●●●●●
274. 32945648 c.2507C>A p.A836E missense 0.00000824●●●●●●
275. 32945653 c.2502C>G p.N834K missense 0.00000824●●●●●●
276. 32945654 c.2501A>G p.N834S missense 0.00000824●●●●●●
277. 32945660 c.2495C>T p.A832V missense 0.00000824●●●●●●
278. 32949104 c.2428G>A p.A810T missense 0.00000824●●●●●●
279. 32949110 c.2422C>G p.Q808E missense 0.00000824●●●●●●
280. 32949116 c.2416A>G p.S806G missense 0.00000824●●●●●●
281. 32949179 c.2353A>G p.T785A missense 0.00000824●●●●●●
282. 32949184 c.2348C>T p.P783L missense 0.00000824●●●●●●
283. 32955345 c.2291A>G p.N764S missense 0.00000824●●●●●●
284. 32955346 c.2290A>C p.N764H missense 0.00000824●●●●●●
285. 32955364 c.2272C>G p.R758G missense 0.00000824●●●●●●
286. 32955403 c.2233G>T p.V745L missense 0.00000824●●●●●●
287. 32955425 c.2211G>A p.M737I missense 0.00000824●●●●●●
288. 32955430 c.2206A>G p.K736E missense 0.00000824●●●●●●
289. 32955448 c.2188G>A p.G730S missense 0.00000824●●●●●●
290. 32955466 c.2170G>A p.V724I missense 0.00000824●●●●●●
291. 32955468 c.2168C>T p.T723I missense 0.00000824●●●●●●
292. 32955486 c.2150C>G p.P717R missense 0.00000824●●●●●●
293. 32955487 c.2149C>T p.P717S missense 0.00000824●●●●●●
294. 32974314 c.2121G>T p.Q707H missense 0.00000824●●●●●●
295. 32974321 c.2114C>T p.A705V missense 0.00000824●●●●●●
296. 32974324 c.2111G>A p.G704E missense 0.00000824●●●●●●
297. 32974360 c.2075A>G p.K692R missense 0.00000824●●●●●●
298. 32974386 c.2049A>G p.I683M missense 0.00000824●●●●●●
299. 32974429 c.2006G>T p.S669I missense 0.00000824●●●●●●
300. 32975420 c.1952G>A p.R651Q missense 0.00000824●●●●●●
301. 32975424 c.1948A>G p.S650G missense 0.00000824●●●●●●
302. 32975446 c.1926C>A p.N642K missense 0.00000824●●●●●●
303. 32975453 c.1919A>G p.D640G missense 0.00000824●●●●●●
304. 32975496 c.1876T>A p.Y626N missense 0.00000824●●●●●●
305. 32975511 c.1861G>A p.E621K missense 0.00000824●●●●●●
306. 32975535 c.1837A>C p.N613H missense 0.00000824●●●●●●
307. 32975538 c.1834C>T p.H612Y missense 0.00000824●●●●●●
308. 32976987 c.1798G>A p.D600N missense 0.00000824●●●●●●
309. 32976990 c.1795C>A p.P599T missense 0.00000824●●●●●●
310. 32976997 c.1788T>G p.D596E missense 0.00000824●●●●●●
311. 32977031 c.1754C>T p.S585L missense 0.00000824●●●●●●
312. 32977035 c.1750G>C p.D584H missense 0.00000824●●●●●●
313. 32977061 c.1724C>G p.A575G missense 0.00000824●●●●●●
314. 32993972 c.1678G>A p.G560R missense 0.00000824●●●●●●
315. 32994013 c.1637C>G p.A546G missense 0.00000824●●●●●●
316. 32994017 c.1633A>G p.K545E missense 0.00000824●●●●●●
317. 32994028 c.1622G>T p.G541V missense 0.00000824●●●●●●
318. 32994051 c.1599C>G p.I533M missense 0.00000824●●●●●●
319. 33003727 c.1351G>A p.D451N missense 0.00000824●●●●●●
320. 33003757 c.1321C>T p.R441W missense 0.00000824●●●●●●
321. 33003816 c.1262A>G p.N421S missense 0.00000824●●●●●●
322. 33003879 c.1199T>A p.L400H missense 0.00000824●●●●●●
323. 33003894 c.1184G>C p.R395P missense 0.00000824●●●●●●
324. 33021868 c.1163G>A p.R388Q missense 0.00000824●●●●●●
325. 33021901 c.1130T>C p.I377T missense 0.00000824●●●●●●
326. 33021917 c.1114G>A p.A372T missense 0.00000824●●●●●●
327. 33021936 c.1095G>T p.M365I missense 0.00000824●●●●●●
328. 33021940 c.1091A>T p.H364L missense 0.00000824●●●●●●
329. 33021950 c.1081G>C p.E361Q missense 0.00000824●●●●●●
330. 33021978 c.1053G>T p.M351I missense 0.00000824●●●●●●
331. 33031158 c.656G>A p.R219K missense 0.00000824●●●●●●
332. 33031180 c.634C>T p.R212C missense 0.00000824●●●●●●
333. 33031258 c.556G>A p.A186T missense 0.00000824●●●●●●
334. 33031272 c.542A>C p.Q181P missense 0.00000824●●●●●●
335. 33031273 c.541C>G p.Q181E missense 0.00000824●●●●●●
336. 33031284 c.530C>T p.T177I missense 0.00000824●●●●●●
337. 33031293 c.521C>T p.A174V missense 0.00000824●●●●●●
338. 33031332 c.482A>G p.Y161C missense 0.00000824●●●●●●
339. 33031864 c.326A>T p.D109V missense 0.00000824●●●●●●
340. 33031865 c.325G>A p.D109N missense 0.00000824●●●●●●
341. 33031870 c.320C>T p.T107I missense 0.00000824●●●●●●
342. 33031877 c.313C>T p.P105S missense 0.00000824●●●●●●
343. 33031891 c.299G>A p.G100D missense 0.00000824●●●●●●
344. 33031897 c.293T>C p.V98A missense 0.00000824●●●●●●
345. 33031915 c.275T>C p.L92S 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.