PKP2 protein-altering variants in ExAC

PKP2 gene summary
PKP2 variants in DCM

The table below lists the PKP2 protein-altering 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 frequency▼Populations*
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. 32949050 c.2482G>A p.G828S missense 0.00008237●●●●●●
10. 33003847 c.1231G>A p.V411I 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. 32974306 c.2129C>T p.T710M missense 0.00006597●●●●●●
19. 33031341 c.473G>A p.R158K missense 0.00006597●●●●●●
20. 32974415 c.2020G>A p.V674M missense 0.00006593●●●●●●
21. 32975500 c.1872G>T p.E624D 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. 32945603 c.2552C>T p.T851M missense 0.00005766●●●●●●
27. 32993981 c.1669A>G p.N557D missense 0.00005766●●●●●●
28. 32949068 c.2464A>G p.I822V missense 0.00005766●●●●●●
29. 32955432 c.2204G>A p.R735Q missense 0.00005766●●●●●●
30. 32945392 c.2612G>A p.R871Q 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. 32955491 c.2146-1G>C essential splice site 0.00004944●●●●●●
35. 32955363 c.2273G>A p.R758Q missense 0.00004943●●●●●●
36. 32949098 c.2434G>A p.D812N missense 0.00004942●●●●●●
37. 32945631 c.2524G>A p.V842I missense 0.00004942●●●●●●
38. 32996128 c.1498C>T p.P500S missense 0.00004734●●●●●●
39. 32996241 c.1385C>G p.T462R missense 0.00004164●●●●●●
40. 33030831 c.983G>C p.G328A missense 0.00004159●●●●●●
41. 33030843 c.971_972insCT p.Ala325TrpfsTer28 frameshift 0.00004148●●●●●●
42. 33030846 c.968_969delAG p.Gln323ArgfsTer12 frameshift 0.00004145●●●●●●
43. 33030874 c.940G>A p.G314R missense 0.00004131●●●●●●
44. 33031101 c.713C>T p.P238L missense 0.00004129●●●●●●
45. 33031026 c.788C>T p.T263M missense 0.00004129●●●●●●
46. 32975561 c.1811C>T p.T604M missense 0.00004126●●●●●●
47. 33031204 c.610C>T p.R204C missense 0.00004119●●●●●●
48. 32993978 c.1672G>A p.V558I missense 0.00004119●●●●●●
49. 32994035 c.1615C>G p.P539A missense 0.00004119●●●●●●
50. 33021962 c.1069G>A p.V357M missense 0.00004119●●●●●●
51. 32949101 c.2431C>T p.R811C missense 0.00004118●●●●●●
52. 32996137 c.1489C>T p.R497X nonsense 0.00003606●●●●●●
53. 33030834 c.980G>T p.G327V missense 0.00003325●●●●●●
54. 33031066 c.748C>T p.R250C missense 0.00003305●●●●●●
55. 33030976 c.838G>A p.V280I missense 0.00003305●●●●●●
56. 33030876 c.938G>A p.S313N missense 0.00003304●●●●●●
57. 33031126 c.688G>A p.V230I missense 0.00003300●●●●●●
58. 33031350 c.464G>C p.S155T missense 0.00003299●●●●●●
59. 32975444 c.1928A>G p.K643R missense 0.00003297●●●●●●
60. 32974355 c.2080G>A p.V694I missense 0.00003297●●●●●●
61. 32974373 c.2062T>C p.S688P missense 0.00003296●●●●●●
62. 33031902 c.288T>G p.D96E missense 0.00003296●●●●●●
63. 32949166 c.2366T>A p.I789N missense 0.00003295●●●●●●
64. 32993999 c.1651G>A p.D551N missense 0.00003295●●●●●●
65. 32945618 c.2537C>T p.S846F missense 0.00003295●●●●●●
66. 33021986 c.1045A>G p.M349V missense 0.00003295●●●●●●
67. 33021950 c.1081G>A p.E361K missense 0.00003295●●●●●●
68. 32993990 c.1660A>G p.I554V missense 0.00003295●●●●●●
69. 33049472 c.194C>T p.A65V missense 0.00003207●●●●●●
70. 33049530 c.136C>A p.R46S missense 0.00003098●●●●●●
71. 33049589 c.77A>G p.D26G missense 0.00003089●●●●●●
72. 33049588 c.78C>A p.D26E missense 0.00003080●●●●●●
73. 32996122 c.1504C>T p.Q502X nonsense 0.00002854●●●●●●
74. 33049520 c.146A>G p.Q49R missense 0.00002829●●●●●●
75. 32996151 c.1475_1476insCT p.Arg493Ter frameshift 0.00002799●●●●●●
76. 33030790 c.1024T>C p.S342P missense 0.00002566●●●●●●
77. 33030804 c.1010G>A p.S337N missense 0.00002526●●●●●●
78. 33049443 c.223G>A p.G75R missense 0.00002480●●●●●●
79. 32994092 c.1558A>G p.I520V missense 0.00002479●●●●●●
80. 33031030 c.784C>A p.L262M missense 0.00002477●●●●●●
81. 32974301 c.2134G>A p.G712R missense 0.00002475●●●●●●
82. 32994067 c.1583C>T p.T528M missense 0.00002474●●●●●●
83. 32974441 c.1994C>G p.P665R missense 0.00002474●●●●●●
84. 32974351 c.2084G>A p.R695H missense 0.00002473●●●●●●
85. 32975415 c.1957A>G p.R653G missense 0.00002473●●●●●●
86. 32994062 c.1588A>G p.N530D missense 0.00002473●●●●●●
87. 33031194 c.620C>G p.T207S missense 0.00002472●●●●●●
88. 32975484 c.1888A>G p.I630V missense 0.00002472●●●●●●
89. 33003888 c.1190T>A p.I397N missense 0.00002472●●●●●●
90. 32949166 c.2366T>C p.I789T missense 0.00002472●●●●●●
91. 33003756 c.1322G>A p.R441Q missense 0.00002471●●●●●●
92. 33021967 c.1064G>A p.R355Q missense 0.00002471●●●●●●
93. 32949100 c.2432G>A p.R811H missense 0.00002471●●●●●●
94. 33031209 c.605T>C p.V202A missense 0.00002471●●●●●●
95. 32949083 c.2449G>A p.G817R missense 0.00002471●●●●●●
96. 32945612 c.2543G>C p.W848S missense 0.00002471●●●●●●
97. 32949042 c.2489+1G>A essential splice site 0.00002471●●●●●●
98. 32996166 c.1460A>G p.Q487R missense 0.00002008●●●●●●
99. 32996134 c.1492G>A p.D498N missense 0.00002006●●●●●●
100. 33049556 c.110A>G p.K37R missense 0.00001943●●●●●●
101. 32996184 c.1442C>T p.P481L missense 0.00001776●●●●●●
102. 32996202 c.1424T>G p.V475G missense 0.00001692●●●●●●
103. 32996211 c.1415C>T p.P472L missense 0.00001677●●●●●●
104. 32996242 c.1384A>G p.T462A missense 0.00001665●●●●●●
105. 33030832 c.982G>A p.G328R missense 0.00001663●●●●●●
106. 33030840 c.974C>T p.A325V missense 0.00001660●●●●●●
107. 33030843 c.971C>T p.A324V missense 0.00001659●●●●●●
108. 33030850 c.964G>A p.G322S missense 0.00001656●●●●●●
109. 33031074 c.740G>A p.G247E missense 0.00001656●●●●●●
110. 33031006 c.808C>T p.Q270X nonsense 0.00001652●●●●●●
111. 33030960 c.854C>T p.A285V missense 0.00001652●●●●●●
112. 33031954 c.236G>A p.R79Q missense 0.00001651●●●●●●
113. 33030921 c.893C>A p.T298N missense 0.00001651●●●●●●
114. 33030925 c.889A>T p.S297C missense 0.00001651●●●●●●
115. 33030900 c.914G>A p.G305E missense 0.00001651●●●●●●
116. 32994076 c.1574T>G p.L525R missense 0.00001650●●●●●●
117. 32974456 c.1979A>G p.Q660R missense 0.00001650●●●●●●
118. 32974451 c.1984G>A p.V662M missense 0.00001650●●●●●●
119. 32977074 c.1711G>A p.D571N missense 0.00001649●●●●●●
120. 33031132 c.682G>A p.D228N missense 0.00001649●●●●●●
121. 32974358 c.2077A>G p.S693G missense 0.00001649●●●●●●
122. 32977077 c.1708G>A p.A570T missense 0.00001649●●●●●●
123. 33003897 c.1181T>A p.L394H missense 0.00001649●●●●●●
124. 32974345 c.2090A>G p.Y697C missense 0.00001649●●●●●●
125. 33031877 c.313C>G p.P105A missense 0.00001648●●●●●●
126. 33031212 c.602G>A p.G201E missense 0.00001648●●●●●●
127. 32945368 c.2636T>C p.L879P missense 0.00001648●●●●●●
128. 33031252 c.562C>G p.L188V missense 0.00001648●●●●●●
129. 32955364 c.2272C>T p.R758W missense 0.00001648●●●●●●
130. 33031228 c.586C>T p.R196C missense 0.00001648●●●●●●
131. 32974364 c.2071G>A p.A691T missense 0.00001648●●●●●●
132. 32975446 c.1926_1928delCAA inframe 0.00001648●●●●●●
133. 32955351 c.2285T>C p.L762P missense 0.00001648●●●●●●
134. 32994037 c.1613G>A p.W538X nonsense 0.00001648●●●●●●
135. 33031298 c.516C>A p.S172R missense 0.00001648●●●●●●
136. 33031227 c.587G>A p.R196H missense 0.00001648●●●●●●
137. 33031239 c.575C>T p.P192L missense 0.00001648●●●●●●
138. 33031892 c.298G>A p.G100S missense 0.00001648●●●●●●
139. 32974380 c.2055G>A p.M685I missense 0.00001648●●●●●●
140. 32945393 c.2611C>T p.R871W missense 0.00001648●●●●●●
141. 33031281 c.533T>C p.L178P missense 0.00001648●●●●●●
142. 33031260 c.554G>A p.R185Q missense 0.00001648●●●●●●
143. 32975431 c.1941T>G p.C647W missense 0.00001648●●●●●●
144. 33031916 c.274T>G p.L92V missense 0.00001648●●●●●●
145. 33031261 c.553C>T p.R185W missense 0.00001648●●●●●●
146. 33031246 c.568G>C p.V190L missense 0.00001648●●●●●●
147. 32975483 c.1889T>C p.I630T missense 0.00001648●●●●●●
148. 33021904 c.1127T>C p.F376S missense 0.00001647●●●●●●
149. 33021887 c.1144T>C p.F382L missense 0.00001647●●●●●●
150. 32945595 c.2560C>T p.H854Y missense 0.00001647●●●●●●
151. 32994008 c.1642G>T p.G548C missense 0.00001647●●●●●●
152. 33021983 c.1048G>A p.E350K missense 0.00001647●●●●●●
153. 32993995 c.1655T>G p.F552C missense 0.00001647●●●●●●
154. 33003762 c.1316T>G p.V439G missense 0.00001647●●●●●●
155. 33003841 c.1237C>T p.R413X nonsense 0.00001647●●●●●●
156. 33049535 c.131G>A p.S44N missense 0.00001632●●●●●●
157. 32996142 c.1484G>A p.G495E missense 0.00001556●●●●●●
158. 32996146 c.1480T>G p.S494A missense 0.00001458●●●●●●
159. 33049444 c.222C>G p.N74K missense 0.00001238●●●●●●
160. 33049508 c.158G>A p.S53N missense 0.00001195●●●●●●
161. 33049457 c.209G>C p.S70T missense 0.00001134●●●●●●
162. 33049458 c.208A>G p.S70G missense 0.00001126●●●●●●
163. 33049499 c.167T>C p.I56T missense 0.00001110●●●●●●
164. 32996167 c.1459C>A p.Q487K missense 0.00000981●●●●●●
165. 32996172 c.1454G>T p.G485V missense 0.00000936●●●●●●
166. 33030786 c.1028A>G p.Q343R missense 0.00000861●●●●●●
167. 33031455 c.359A>C p.E120A missense 0.00000857●●●●●●
168. 33031449 c.365G>A p.R122H missense 0.00000855●●●●●●
169. 33031449 c.365G>T p.R122L missense 0.00000855●●●●●●
170. 33031450 c.364C>T p.R122C missense 0.00000855●●●●●●
171. 33031445 c.369G>A p.W123X nonsense 0.00000853●●●●●●
172. 33030801 c.1013C>A p.T338N missense 0.00000844●●●●●●
173. 32996217 c.1409G>C p.G470A missense 0.00000836●●●●●●
174. 32949225 c.2307A>T p.E769D missense 0.00000834●●●●●●
175. 32996239 c.1387G>A p.V463I missense 0.00000833●●●●●●
176. 33030829 c.985A>C p.S329R missense 0.00000832●●●●●●
177. 33031405 c.409G>A p.E137K missense 0.00000832●●●●●●
178. 33030834 c.980G>A p.G327E missense 0.00000831●●●●●●
179. 33030837 c.977C>A p.A326E missense 0.00000831●●●●●●
180. 32949221 c.2311C>G p.L771V missense 0.00000831●●●●●●
181. 32994140 c.1511-1G>T essential splice site 0.00000830●●●●●●
182. 33030838 c.976G>A p.A326T missense 0.00000830●●●●●●
183. 32994139 c.1511G>T p.G504V missense 0.00000830●●●●●●
184. 32994133 c.1517T>C p.L506P missense 0.00000830●●●●●●
185. 33030843 c.971C>G p.A324G missense 0.00000829●●●●●●
186. 33031065 c.749G>T p.R250L missense 0.00000828●●●●●●
187. 32994103 c.1547A>C p.K516T missense 0.00000827●●●●●●
188. 33031002 c.812T>G p.V271G missense 0.00000827●●●●●●
189. 33031960 c.230T>A p.L77H missense 0.00000827●●●●●●
190. 32994095 c.1555A>G p.M519V missense 0.00000827●●●●●●
191. 33030864 c.950C>T p.A317V missense 0.00000827●●●●●●
192. 32977097 c.1689-1G>C essential splice site 0.00000826●●●●●●
193. 33030928 c.886C>A p.H296N missense 0.00000826●●●●●●
194. 33031084 c.730C>T p.P244S missense 0.00000826●●●●●●
195. 33030997 c.817C>T p.P273S missense 0.00000826●●●●●●
196. 33030964 c.850A>G p.R284G missense 0.00000826●●●●●●
197. 33030918 c.896G>A p.R299H missense 0.00000826●●●●●●
198. 32994091 c.1559T>A p.I520K missense 0.00000826●●●●●●
199. 33031059 c.755T>C p.M252T missense 0.00000826●●●●●●
200. 33031009 c.805G>A p.G269R missense 0.00000826●●●●●●
201. 33030941 c.873T>A p.H291Q missense 0.00000826●●●●●●
202. 33031095 c.719T>C p.L240P missense 0.00000826●●●●●●
203. 33030997 c.817C>G p.P273A missense 0.00000826●●●●●●
204. 33031021 c.793G>A p.G265R missense 0.00000826●●●●●●
205. 33030880 c.934T>C p.S312P missense 0.00000826●●●●●●
206. 33031012 c.802G>T p.V268F missense 0.00000826●●●●●●
207. 33030952 c.862T>C p.S288P missense 0.00000826●●●●●●
208. 33003698 c.1378+2T>A essential splice site 0.00000826●●●●●●
209. 33030968 c.846G>C p.Q282H missense 0.00000826●●●●●●
210. 33030984 c.830T>C p.L277P missense 0.00000826●●●●●●
211. 33030955 c.859A>G p.R287G missense 0.00000826●●●●●●
212. 32994089 c.1561A>G p.T521A missense 0.00000826●●●●●●
213. 33030889 c.925G>A p.A309T missense 0.00000826●●●●●●
214. 32975562 c.1810A>G p.T604A missense 0.00000825●●●●●●
215. 32949196 c.2336C>G p.P779R missense 0.00000825●●●●●●
216. 33031940 c.250C>T p.P84S missense 0.00000825●●●●●●
217. 33031347 c.467C>T p.P156L missense 0.00000825●●●●●●
218. 32974455 c.1980G>C p.Q660H missense 0.00000825●●●●●●
219. 33003895 c.1183C>T p.R395C missense 0.00000825●●●●●●
220. 32949197 c.2335C>G p.P779A missense 0.00000825●●●●●●
221. 33031353 c.461G>A p.S154N missense 0.00000825●●●●●●
222. 32977086 c.1699T>A p.S567T missense 0.00000825●●●●●●
223. 32975551 c.1821dupT frameshift 0.00000825●●●●●●
224. 33003711 c.1367A>G p.K456R missense 0.00000825●●●●●●
225. 33031357 c.457G>A p.D153N missense 0.00000825●●●●●●
226. 32994083 c.1567G>C p.A523P missense 0.00000825●●●●●●
227. 32975555 c.1817A>G p.N606S missense 0.00000825●●●●●●
228. 32974457 c.1978C>T p.Q660X nonsense 0.00000825●●●●●●
229. 33031053 c.761A>C p.N254T missense 0.00000825●●●●●●
230. 33031364 c.450T>G p.I150M missense 0.00000825●●●●●●
231. 33003894 c.1184G>C p.R395P missense 0.00000824●●●●●●
232. 32975535 c.1837A>C p.N613H missense 0.00000824●●●●●●
233. 32975469 c.1903C>T p.R635W missense 0.00000824●●●●●●
234. 32975420 c.1952G>A p.R651Q missense 0.00000824●●●●●●
235. 32945648 c.2507C>A p.A836E missense 0.00000824●●●●●●
236. 32974361 c.2074A>T p.K692X nonsense 0.00000824●●●●●●
237. 33031877 c.313C>T p.P105S missense 0.00000824●●●●●●
238. 33031864 c.326A>T p.D109V missense 0.00000824●●●●●●
239. 32974386 c.2049A>G p.I683M missense 0.00000824●●●●●●
240. 32975529 c.1843T>A p.S615T missense 0.00000824●●●●●●
241. 32994028 c.1622G>T p.G541V missense 0.00000824●●●●●●
242. 32955486 c.2150C>G p.P717R missense 0.00000824●●●●●●
243. 33021936 c.1095G>T p.M365I missense 0.00000824●●●●●●
244. 32977031 c.1754C>T p.S585L missense 0.00000824●●●●●●
245. 32955346 c.2290A>C p.N764H missense 0.00000824●●●●●●
246. 33021968 c.1063C>T p.R355X nonsense 0.00000824●●●●●●
247. 32949104 c.2428G>A p.A810T missense 0.00000824●●●●●●
248. 33003816 c.1262A>G p.N421S missense 0.00000824●●●●●●
249. 32945401 c.2603T>A p.V868D missense 0.00000824●●●●●●
250. 32955343 c.2293G>C p.E765Q missense 0.00000824●●●●●●
251. 33031151 c.663C>A p.Y221X nonsense 0.00000824●●●●●●
252. 33031273 c.541C>G p.Q181E missense 0.00000824●●●●●●
253. 33021978 c.1053G>T p.M351I missense 0.00000824●●●●●●
254. 32955448 c.2188G>A p.G730S missense 0.00000824●●●●●●
255. 32955403 c.2233G>T p.V745L missense 0.00000824●●●●●●
256. 33031293 c.521C>T p.A174V missense 0.00000824●●●●●●
257. 32949179 c.2353A>G p.T785A missense 0.00000824●●●●●●
258. 32955414 c.2222G>T p.G741V missense 0.00000824●●●●●●
259. 32976987 c.1798G>A p.D600N missense 0.00000824●●●●●●
260. 32975421 c.1951C>T p.R651X nonsense 0.00000824●●●●●●
261. 32975446 c.1926C>A p.N642K missense 0.00000824●●●●●●
262. 32975424 c.1948A>G p.S650G missense 0.00000824●●●●●●
263. 32945653 c.2502C>G p.N834K missense 0.00000824●●●●●●
264. 33031865 c.325G>A p.D109N missense 0.00000824●●●●●●
265. 32945376 c.2628C>A p.Y876X nonsense 0.00000824●●●●●●
266. 33021869 c.1162C>T p.R388W missense 0.00000824●●●●●●
267. 33031891 c.299G>A p.G100D missense 0.00000824●●●●●●
268. 32994051 c.1599C>G p.I533M missense 0.00000824●●●●●●
269. 32955487 c.2149C>T p.P717S missense 0.00000824●●●●●●
270. 33031931 c.259G>C p.V87L missense 0.00000824●●●●●●
271. 32974321 c.2114C>T p.A705V missense 0.00000824●●●●●●
272. 33003786 c.1292T>C p.L431S missense 0.00000824●●●●●●
273. 33031258 c.556G>A p.A186T missense 0.00000824●●●●●●
274. 33021940 c.1091A>T p.H364L missense 0.00000824●●●●●●
275. 32977035 c.1750G>C p.D584H missense 0.00000824●●●●●●
276. 33031158 c.656G>A p.R219K missense 0.00000824●●●●●●
277. 33003879 c.1199T>A p.L400H missense 0.00000824●●●●●●
278. 32975538 c.1834C>T p.H612Y missense 0.00000824●●●●●●
279. 33003757 c.1321C>T p.R441W missense 0.00000824●●●●●●
280. 32975496 c.1876T>A p.Y626N missense 0.00000824●●●●●●
281. 32949110 c.2422C>G p.Q808E missense 0.00000824●●●●●●
282. 32949044 c.2488G>C p.A830P missense 0.00000824●●●●●●
283. 33031915 c.275T>C p.L92S missense 0.00000824●●●●●●
284. 32994013 c.1637C>G p.A546G missense 0.00000824●●●●●●
285. 32955466 c.2170G>A p.V724I missense 0.00000824●●●●●●
286. 32976990 c.1795C>A p.P599T missense 0.00000824●●●●●●
287. 32949184 c.2348C>T p.P783L missense 0.00000824●●●●●●
288. 33021901 c.1130T>C p.I377T missense 0.00000824●●●●●●
289. 32945654 c.2501A>G p.N834S missense 0.00000824●●●●●●
290. 32955378 c.2258T>A p.L753Q missense 0.00000824●●●●●●
291. 32975453 c.1919A>G p.D640G missense 0.00000824●●●●●●
292. 33031870 c.320C>T p.T107I missense 0.00000824●●●●●●
293. 32974429 c.2006G>T p.S669I missense 0.00000824●●●●●●
294. 32945411 c.2593A>G p.T865A missense 0.00000824●●●●●●
295. 32974324 c.2111G>A p.G704E missense 0.00000824●●●●●●
296. 32977061 c.1724C>G p.A575G missense 0.00000824●●●●●●
297. 32975468 c.1904G>A p.R635Q missense 0.00000824●●●●●●
298. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824●●●●●●
299. 33021950 c.1081G>C p.E361Q missense 0.00000824●●●●●●
300. 32993972 c.1678G>A p.G560R missense 0.00000824●●●●●●
301. 32955425 c.2211G>A p.M737I missense 0.00000824●●●●●●
302. 33031180 c.634C>T p.R212C missense 0.00000824●●●●●●
303. 32975511 c.1861G>A p.E621K missense 0.00000824●●●●●●
304. 32949116 c.2416A>G p.S806G missense 0.00000824●●●●●●
305. 33031216 c.598G>A p.V200M missense 0.00000824●●●●●●
306. 32945628 c.2527C>T p.L843F missense 0.00000824●●●●●●
307. 32945651 c.2504A>G p.K835R missense 0.00000824●●●●●●
308. 32974360 c.2075A>G p.K692R missense 0.00000824●●●●●●
309. 33031332 c.482A>G p.Y161C missense 0.00000824●●●●●●
310. 32994017 c.1633A>G p.K545E missense 0.00000824●●●●●●
311. 32955468 c.2168C>T p.T723I missense 0.00000824●●●●●●
312. 33021917 c.1114G>A p.A372T missense 0.00000824●●●●●●
313. 33021868 c.1163G>A p.R388Q missense 0.00000824●●●●●●
314. 32976997 c.1788T>G p.D596E missense 0.00000824●●●●●●
315. 32955345 c.2291A>G p.N764S missense 0.00000824●●●●●●
316. 32977076 c.1709C>T p.A570V missense 0.00000824●●●●●●
317. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824●●●●●●
318. 32945660 c.2495C>T p.A832V missense 0.00000824●●●●●●
319. 33003727 c.1351G>A p.D451N missense 0.00000824●●●●●●
320. 32945398 c.2606A>C p.N869T missense 0.00000824●●●●●●
321. 33031897 c.293T>C p.V98A missense 0.00000824●●●●●●
322. 32945585 c.2570A>T p.Y857F missense 0.00000824●●●●●●
323. 32974314 c.2121G>T p.Q707H missense 0.00000824●●●●●●
324. 32955430 c.2206A>G p.K736E missense 0.00000824●●●●●●
325. 32955364 c.2272C>G p.R758G missense 0.00000824●●●●●●
326. 33031284 c.530C>T p.T177I missense 0.00000824●●●●●●
327. 33031272 c.542A>C p.Q181P 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.