PKP2 variants in ExAC

PKP2 gene summary
PKP2 variants in DCM

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 frequency▼Populations*
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. 32993981 c.1669A>G p.N557D missense 0.00005766●●●●●●
77. 32955432 c.2204G>A p.R735Q missense 0.00005766●●●●●●
78. 32945392 c.2612G>A p.R871Q missense 0.00005766●●●●●●
79. 32949068 c.2464A>G p.I822V missense 0.00005766●●●●●●
80. 32945603 c.2552C>T p.T851M 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. 33030976 c.838G>A p.V280I missense 0.00003305●●●●●●
107. 33031066 c.748C>T p.R250C 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. 32945618 c.2537C>T p.S846F missense 0.00003295●●●●●●
116. 32993999 c.1651G>A p.D551N missense 0.00003295●●●●●●
117. 32949166 c.2366T>A p.I789N missense 0.00003295●●●●●●
118. 32993990 c.1660A>G p.I554V missense 0.00003295●●●●●●
119. 33021950 c.1081G>A p.E361K missense 0.00003295●●●●●●
120. 33021986 c.1045A>G p.M349V 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. 32994067 c.1583C>T p.T528M missense 0.00002474●●●●●●
136. 32974441 c.1994C>G p.P665R missense 0.00002474●●●●●●
137. 32974351 c.2084G>A p.R695H missense 0.00002473●●●●●●
138. 32975415 c.1957A>G p.R653G missense 0.00002473●●●●●●
139. 32994062 c.1588A>G p.N530D missense 0.00002473●●●●●●
140. 32975484 c.1888A>G p.I630V missense 0.00002472●●●●●●
141. 33003888 c.1190T>A p.I397N missense 0.00002472●●●●●●
142. 32993955 c.1688+7C>T splice site 0.00002472●●●●●●
143. 33031194 c.620C>G p.T207S missense 0.00002472●●●●●●
144. 32949166 c.2366T>C p.I789T missense 0.00002472●●●●●●
145. 32945671 c.2490-6T>C splice site 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. 33031074 c.740G>A p.G247E missense 0.00001656●●●●●●
165. 33030850 c.964G>A p.G322S missense 0.00001656●●●●●●
166. 33031006 c.808C>T p.Q270X nonsense 0.00001652●●●●●●
167. 33030960 c.854C>T p.A285V missense 0.00001652●●●●●●
168. 33030925 c.889A>T p.S297C missense 0.00001651●●●●●●
169. 33030900 c.914G>A p.G305E missense 0.00001651●●●●●●
170. 33031954 c.236G>A p.R79Q missense 0.00001651●●●●●●
171. 33030921 c.893C>A p.T298N 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. 33003897 c.1181T>A p.L394H missense 0.00001649●●●●●●
176. 32977077 c.1708G>A p.A570T missense 0.00001649●●●●●●
177. 33031132 c.682G>A p.D228N missense 0.00001649●●●●●●
178. 32974345 c.2090A>G p.Y697C missense 0.00001649●●●●●●
179. 32977074 c.1711G>A p.D571N missense 0.00001649●●●●●●
180. 32955326 c.2299+11A>G splice site 0.00001649●●●●●●
181. 32974358 c.2077A>G p.S693G missense 0.00001649●●●●●●
182. 33031239 c.575C>T p.P192L missense 0.00001648●●●●●●
183. 33031892 c.298G>A p.G100S missense 0.00001648●●●●●●
184. 33031281 c.533T>C p.L178P missense 0.00001648●●●●●●
185. 33031260 c.554G>A p.R185Q missense 0.00001648●●●●●●
186. 33031916 c.274T>G p.L92V missense 0.00001648●●●●●●
187. 32974364 c.2071G>A p.A691T missense 0.00001648●●●●●●
188. 32945393 c.2611C>T p.R871W missense 0.00001648●●●●●●
189. 33031246 c.568G>C p.V190L missense 0.00001648●●●●●●
190. 32955351 c.2285T>C p.L762P missense 0.00001648●●●●●●
191. 33031877 c.313C>G p.P105A missense 0.00001648●●●●●●
192. 33031261 c.553C>T p.R185W missense 0.00001648●●●●●●
193. 32955364 c.2272C>T p.R758W missense 0.00001648●●●●●●
194. 33031212 c.602G>A p.G201E missense 0.00001648●●●●●●
195. 32994037 c.1613G>A p.W538X nonsense 0.00001648●●●●●●
196. 32975431 c.1941T>G p.C647W missense 0.00001648●●●●●●
197. 32974380 c.2055G>A p.M685I missense 0.00001648●●●●●●
198. 33031252 c.562C>G p.L188V missense 0.00001648●●●●●●
199. 32945368 c.2636T>C p.L879P missense 0.00001648●●●●●●
200. 32975446 c.1926_1928delCAA inframe 0.00001648●●●●●●
201. 33031228 c.586C>T p.R196C missense 0.00001648●●●●●●
202. 32975483 c.1889T>C p.I630T missense 0.00001648●●●●●●
203. 33031227 c.587G>A p.R196H missense 0.00001648●●●●●●
204. 33031298 c.516C>A p.S172R 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>T p.R122L missense 0.00000855●●●●●●
230. 33031449 c.365G>A p.R122H missense 0.00000855●●●●●●
231. 33031450 c.364C>T p.R122C 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. 32996239 c.1387G>A p.V463I missense 0.00000833●●●●●●
237. 32996246 c.1380C>T splice site 0.00000833●●●●●●
238. 32996251 c.1379-4A>G splice site 0.00000832●●●●●●
239. 33031405 c.409G>A p.E137K missense 0.00000832●●●●●●
240. 33030829 c.985A>C p.S329R missense 0.00000832●●●●●●
241. 32949221 c.2311C>G p.L771V missense 0.00000831●●●●●●
242. 33030834 c.980G>A p.G327E missense 0.00000831●●●●●●
243. 33030837 c.977C>A p.A326E 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. 33031002 c.812T>G p.V271G missense 0.00000827●●●●●●
252. 33031960 c.230T>A p.L77H missense 0.00000827●●●●●●
253. 32994103 c.1547A>C p.K516T missense 0.00000827●●●●●●
254. 33030864 c.950C>T p.A317V missense 0.00000827●●●●●●
255. 32994095 c.1555A>G p.M519V missense 0.00000827●●●●●●
256. 33031012 c.802G>T p.V268F missense 0.00000826●●●●●●
257. 33030952 c.862T>C p.S288P missense 0.00000826●●●●●●
258. 32994089 c.1561A>G p.T521A missense 0.00000826●●●●●●
259. 33031021 c.793G>A p.G265R missense 0.00000826●●●●●●
260. 33030984 c.830T>C p.L277P missense 0.00000826●●●●●●
261. 33030955 c.859A>G p.R287G missense 0.00000826●●●●●●
262. 33030889 c.925G>A p.A309T missense 0.00000826●●●●●●
263. 32977097 c.1689-1G>C essential splice site 0.00000826●●●●●●
264. 32994091 c.1559T>A p.I520K missense 0.00000826●●●●●●
265. 33031095 c.719T>C p.L240P missense 0.00000826●●●●●●
266. 33030928 c.886C>A p.H296N missense 0.00000826●●●●●●
267. 33031084 c.730C>T p.P244S missense 0.00000826●●●●●●
268. 33030997 c.817C>T p.P273S missense 0.00000826●●●●●●
269. 33030964 c.850A>G p.R284G missense 0.00000826●●●●●●
270. 33030918 c.896G>A p.R299H missense 0.00000826●●●●●●
271. 33031059 c.755T>C p.M252T missense 0.00000826●●●●●●
272. 33031009 c.805G>A p.G269R missense 0.00000826●●●●●●
273. 33030941 c.873T>A p.H291Q missense 0.00000826●●●●●●
274. 32974469 c.1972-6G>T splice site 0.00000826●●●●●●
275. 33003698 c.1378+2T>A essential splice site 0.00000826●●●●●●
276. 33030968 c.846G>C p.Q282H missense 0.00000826●●●●●●
277. 33030997 c.817C>G p.P273A missense 0.00000826●●●●●●
278. 33030880 c.934T>C p.S312P missense 0.00000826●●●●●●
279. 32949197 c.2335C>G p.P779A missense 0.00000825●●●●●●
280. 33031846 c.336+8A>G splice site 0.00000825●●●●●●
281. 33003711 c.1367A>G p.K456R missense 0.00000825●●●●●●
282. 32974455 c.1980G>C p.Q660H missense 0.00000825●●●●●●
283. 33031357 c.457G>A p.D153N missense 0.00000825●●●●●●
284. 32976976 c.1806+3A>G splice site 0.00000825●●●●●●
285. 32977086 c.1699T>A p.S567T missense 0.00000825●●●●●●
286. 32974457 c.1978C>T p.Q660X nonsense 0.00000825●●●●●●
287. 33031053 c.761A>C p.N254T missense 0.00000825●●●●●●
288. 33031364 c.450T>G p.I150M missense 0.00000825●●●●●●
289. 32975555 c.1817A>G p.N606S missense 0.00000825●●●●●●
290. 33031940 c.250C>T p.P84S missense 0.00000825●●●●●●
291. 33031347 c.467C>T p.P156L missense 0.00000825●●●●●●
292. 32949196 c.2336C>G p.P779R missense 0.00000825●●●●●●
293. 32975551 c.1821dupT frameshift 0.00000825●●●●●●
294. 33003895 c.1183C>T p.R395C missense 0.00000825●●●●●●
295. 33031353 c.461G>A p.S154N missense 0.00000825●●●●●●
296. 32994083 c.1567G>C p.A523P missense 0.00000825●●●●●●
297. 32975562 c.1810A>G p.T604A missense 0.00000825●●●●●●
298. 32977031 c.1754C>T p.S585L missense 0.00000824●●●●●●
299. 32955346 c.2290A>C p.N764H missense 0.00000824●●●●●●
300. 32975468 c.1904G>A p.R635Q missense 0.00000824●●●●●●
301. 32975421 c.1951C>T p.R651X nonsense 0.00000824●●●●●●
302. 33021901 c.1130T>C p.I377T missense 0.00000824●●●●●●
303. 33021869 c.1162C>T p.R388W missense 0.00000824●●●●●●
304. 32949110 c.2422C>G p.Q808E missense 0.00000824●●●●●●
305. 33031870 c.320C>T p.T107I missense 0.00000824●●●●●●
306. 32945411 c.2593A>G p.T865A missense 0.00000824●●●●●●
307. 32977076 c.1709C>T p.A570V missense 0.00000824●●●●●●
308. 32974321 c.2114C>T p.A705V missense 0.00000824●●●●●●
309. 33031931 c.259G>C p.V87L missense 0.00000824●●●●●●
310. 32955403 c.2233G>T p.V745L missense 0.00000824●●●●●●
311. 33021950 c.1081G>C p.E361Q missense 0.00000824●●●●●●
312. 32955448 c.2188G>A p.G730S missense 0.00000824●●●●●●
313. 33031180 c.634C>T p.R212C missense 0.00000824●●●●●●
314. 32976987 c.1798G>A p.D600N missense 0.00000824●●●●●●
315. 32975538 c.1834C>T p.H612Y missense 0.00000824●●●●●●
316. 32949179 c.2353A>G p.T785A missense 0.00000824●●●●●●
317. 32975446 c.1926C>A p.N642K missense 0.00000824●●●●●●
318. 32975424 c.1948A>G p.S650G missense 0.00000824●●●●●●
319. 32945654 c.2501A>G p.N834S missense 0.00000824●●●●●●
320. 33031151 c.663C>A p.Y221X nonsense 0.00000824●●●●●●
321. 32949044 c.2488G>C p.A830P missense 0.00000824●●●●●●
322. 32945431 c.2578-5C>T splice site 0.00000824●●●●●●
323. 33031332 c.482A>G p.Y161C missense 0.00000824●●●●●●
324. 32994051 c.1599C>G p.I533M missense 0.00000824●●●●●●
325. 32955487 c.2149C>T p.P717S missense 0.00000824●●●●●●
326. 33021917 c.1114G>A p.A372T missense 0.00000824●●●●●●
327. 33021868 c.1163G>A p.R388Q missense 0.00000824●●●●●●
328. 32977035 c.1750G>C p.D584H missense 0.00000824●●●●●●
329. 33003727 c.1351G>A p.D451N missense 0.00000824●●●●●●
330. 32975496 c.1876T>A p.Y626N missense 0.00000824●●●●●●
331. 32949116 c.2416A>G p.S806G missense 0.00000824●●●●●●
332. 32945585 c.2570A>T p.Y857F missense 0.00000824●●●●●●
333. 33031897 c.293T>C p.V98A missense 0.00000824●●●●●●
334. 32945628 c.2527C>T p.L843F missense 0.00000824●●●●●●
335. 32974324 c.2111G>A p.G704E missense 0.00000824●●●●●●
336. 32945651 c.2504A>G p.K835R missense 0.00000824●●●●●●
337. 32994013 c.1637C>G p.A546G missense 0.00000824●●●●●●
338. 32955466 c.2170G>A p.V724I missense 0.00000824●●●●●●
339. 32955425 c.2211G>A p.M737I missense 0.00000824●●●●●●
340. 33031284 c.530C>T p.T177I missense 0.00000824●●●●●●
341. 32955378 c.2258T>A p.L753Q missense 0.00000824●●●●●●
342. 33031272 c.542A>C p.Q181P missense 0.00000824●●●●●●
343. 32949184 c.2348C>T p.P783L missense 0.00000824●●●●●●
344. 32975529 c.1843T>A p.S615T missense 0.00000824●●●●●●
345. 33003894 c.1184G>C p.R395P missense 0.00000824●●●●●●
346. 32976990 c.1795C>A p.P599T missense 0.00000824●●●●●●
347. 33003786 c.1292T>C p.L431S missense 0.00000824●●●●●●
348. 32975453 c.1919A>G p.D640G missense 0.00000824●●●●●●
349. 32945660 c.2495C>T p.A832V missense 0.00000824●●●●●●
350. 32974429 c.2006G>T p.S669I missense 0.00000824●●●●●●
351. 32945398 c.2606A>C p.N869T missense 0.00000824●●●●●●
352. 33031877 c.313C>T p.P105S missense 0.00000824●●●●●●
353. 32955343 c.2293G>C p.E765Q missense 0.00000824●●●●●●
354. 32955414 c.2222G>T p.G741V missense 0.00000824●●●●●●
355. 33031864 c.326A>T p.D109V missense 0.00000824●●●●●●
356. 32945433 c.2578-7T>G splice site 0.00000824●●●●●●
357. 33021936 c.1095G>T p.M365I missense 0.00000824●●●●●●
358. 32993972 c.1678G>A p.G560R missense 0.00000824●●●●●●
359. 32977061 c.1724C>G p.A575G missense 0.00000824●●●●●●
360. 33003816 c.1262A>G p.N421S missense 0.00000824●●●●●●
361. 32975511 c.1861G>A p.E621K missense 0.00000824●●●●●●
362. 33021968 c.1063C>T p.R355X nonsense 0.00000824●●●●●●
363. 32945648 c.2507C>A p.A836E missense 0.00000824●●●●●●
364. 32993964 c.1686A>G splice site 0.00000824●●●●●●
365. 32974360 c.2075A>G p.K692R missense 0.00000824●●●●●●
366. 33031273 c.541C>G p.Q181E missense 0.00000824●●●●●●
367. 33021978 c.1053G>T p.M351I missense 0.00000824●●●●●●
368. 32994017 c.1633A>G p.K545E missense 0.00000824●●●●●●
369. 32955468 c.2168C>T p.T723I missense 0.00000824●●●●●●
370. 32955430 c.2206A>G p.K736E missense 0.00000824●●●●●●
371. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824●●●●●●
372. 33031293 c.521C>T p.A174V missense 0.00000824●●●●●●
373. 32955345 c.2291A>G p.N764S missense 0.00000824●●●●●●
374. 32975469 c.1903C>T p.R635W missense 0.00000824●●●●●●
375. 32976997 c.1788T>G p.D596E missense 0.00000824●●●●●●
376. 32949104 c.2428G>A p.A810T missense 0.00000824●●●●●●
377. 33031216 c.598G>A p.V200M missense 0.00000824●●●●●●
378. 33031865 c.325G>A p.D109N missense 0.00000824●●●●●●
379. 32974386 c.2049A>G p.I683M missense 0.00000824●●●●●●
380. 32945401 c.2603T>A p.V868D missense 0.00000824●●●●●●
381. 33031891 c.299G>A p.G100D missense 0.00000824●●●●●●
382. 32974314 c.2121G>T p.Q707H missense 0.00000824●●●●●●
383. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824●●●●●●
384. 33031258 c.556G>A p.A186T missense 0.00000824●●●●●●
385. 33021940 c.1091A>T p.H364L missense 0.00000824●●●●●●
386. 32955364 c.2272C>G p.R758G missense 0.00000824●●●●●●
387. 33031158 c.656G>A p.R219K missense 0.00000824●●●●●●
388. 33003879 c.1199T>A p.L400H missense 0.00000824●●●●●●
389. 33003757 c.1321C>T p.R441W missense 0.00000824●●●●●●
390. 32975535 c.1837A>C p.N613H missense 0.00000824●●●●●●
391. 32975420 c.1952G>A p.R651Q missense 0.00000824●●●●●●
392. 32945653 c.2502C>G p.N834K missense 0.00000824●●●●●●
393. 33031915 c.275T>C p.L92S missense 0.00000824●●●●●●
394. 32974361 c.2074A>T p.K692X nonsense 0.00000824●●●●●●
395. 32945376 c.2628C>A p.Y876X nonsense 0.00000824●●●●●●
396. 32945430 c.2578-4A>C splice site 0.00000824●●●●●●
397. 32994028 c.1622G>T p.G541V missense 0.00000824●●●●●●
398. 32955486 c.2150C>G p.P717R 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.