PKP2 non-truncating variants in ExAC

PKP2 gene summary
PKP2 variants in DCM

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 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. 32945392 c.2612G>A p.R871Q missense 0.00005766●●●●●●
27. 32945603 c.2552C>T p.T851M missense 0.00005766●●●●●●
28. 32955432 c.2204G>A p.R735Q missense 0.00005766●●●●●●
29. 32993981 c.1669A>G p.N557D missense 0.00005766●●●●●●
30. 32949068 c.2464A>G p.I822V 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. 32945631 c.2524G>A p.V842I missense 0.00004942●●●●●●
36. 32949098 c.2434G>A p.D812N 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. 33031026 c.788C>T p.T263M missense 0.00004129●●●●●●
42. 33031101 c.713C>T p.P238L missense 0.00004129●●●●●●
43. 32975561 c.1811C>T p.T604M missense 0.00004126●●●●●●
44. 32993978 c.1672G>A p.V558I missense 0.00004119●●●●●●
45. 33021962 c.1069G>A p.V357M missense 0.00004119●●●●●●
46. 33031204 c.610C>T p.R204C missense 0.00004119●●●●●●
47. 32994035 c.1615C>G p.P539A missense 0.00004119●●●●●●
48. 32949101 c.2431C>T p.R811C missense 0.00004118●●●●●●
49. 33030834 c.980G>T p.G327V missense 0.00003325●●●●●●
50. 33031066 c.748C>T p.R250C missense 0.00003305●●●●●●
51. 33030976 c.838G>A p.V280I 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. 32974373 c.2062T>C p.S688P missense 0.00003296●●●●●●
58. 33031902 c.288T>G p.D96E missense 0.00003296●●●●●●
59. 33021986 c.1045A>G p.M349V missense 0.00003295●●●●●●
60. 32945618 c.2537C>T p.S846F missense 0.00003295●●●●●●
61. 32993990 c.1660A>G p.I554V missense 0.00003295●●●●●●
62. 33021950 c.1081G>A p.E361K missense 0.00003295●●●●●●
63. 32993999 c.1651G>A p.D551N missense 0.00003295●●●●●●
64. 32949166 c.2366T>A p.I789N 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. 33031194 c.620C>G p.T207S missense 0.00002472●●●●●●
82. 32975484 c.1888A>G p.I630V missense 0.00002472●●●●●●
83. 33003888 c.1190T>A p.I397N missense 0.00002472●●●●●●
84. 32949166 c.2366T>C p.I789T missense 0.00002472●●●●●●
85. 32945612 c.2543G>C p.W848S missense 0.00002471●●●●●●
86. 32949083 c.2449G>A p.G817R missense 0.00002471●●●●●●
87. 33003756 c.1322G>A p.R441Q missense 0.00002471●●●●●●
88. 33031209 c.605T>C p.V202A missense 0.00002471●●●●●●
89. 32949100 c.2432G>A p.R811H missense 0.00002471●●●●●●
90. 33021967 c.1064G>A p.R355Q 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. 33031954 c.236G>A p.R79Q missense 0.00001651●●●●●●
105. 33030921 c.893C>A p.T298N missense 0.00001651●●●●●●
106. 33030900 c.914G>A p.G305E missense 0.00001651●●●●●●
107. 33030925 c.889A>T p.S297C missense 0.00001651●●●●●●
108. 32974456 c.1979A>G p.Q660R missense 0.00001650●●●●●●
109. 32974451 c.1984G>A p.V662M missense 0.00001650●●●●●●
110. 32994076 c.1574T>G p.L525R missense 0.00001650●●●●●●
111. 32974358 c.2077A>G p.S693G missense 0.00001649●●●●●●
112. 32977077 c.1708G>A p.A570T missense 0.00001649●●●●●●
113. 32977074 c.1711G>A p.D571N missense 0.00001649●●●●●●
114. 32974345 c.2090A>G p.Y697C missense 0.00001649●●●●●●
115. 33003897 c.1181T>A p.L394H missense 0.00001649●●●●●●
116. 33031132 c.682G>A p.D228N missense 0.00001649●●●●●●
117. 32975446 c.1926_1928delCAA inframe 0.00001648●●●●●●
118. 33031228 c.586C>T p.R196C missense 0.00001648●●●●●●
119. 32975431 c.1941T>G p.C647W missense 0.00001648●●●●●●
120. 33031892 c.298G>A p.G100S missense 0.00001648●●●●●●
121. 32974380 c.2055G>A p.M685I missense 0.00001648●●●●●●
122. 32945368 c.2636T>C p.L879P missense 0.00001648●●●●●●
123. 33031227 c.587G>A p.R196H missense 0.00001648●●●●●●
124. 32955351 c.2285T>C p.L762P missense 0.00001648●●●●●●
125. 33031916 c.274T>G p.L92V missense 0.00001648●●●●●●
126. 33031298 c.516C>A p.S172R missense 0.00001648●●●●●●
127. 33031239 c.575C>T p.P192L missense 0.00001648●●●●●●
128. 32975483 c.1889T>C p.I630T missense 0.00001648●●●●●●
129. 32945393 c.2611C>T p.R871W missense 0.00001648●●●●●●
130. 33031281 c.533T>C p.L178P missense 0.00001648●●●●●●
131. 32955364 c.2272C>T p.R758W missense 0.00001648●●●●●●
132. 33031877 c.313C>G p.P105A missense 0.00001648●●●●●●
133. 33031260 c.554G>A p.R185Q missense 0.00001648●●●●●●
134. 33031246 c.568G>C p.V190L missense 0.00001648●●●●●●
135. 33031212 c.602G>A p.G201E missense 0.00001648●●●●●●
136. 32974364 c.2071G>A p.A691T missense 0.00001648●●●●●●
137. 33031261 c.553C>T p.R185W missense 0.00001648●●●●●●
138. 33031252 c.562C>G p.L188V missense 0.00001648●●●●●●
139. 33003762 c.1316T>G p.V439G missense 0.00001647●●●●●●
140. 32994008 c.1642G>T p.G548C missense 0.00001647●●●●●●
141. 33021904 c.1127T>C p.F376S missense 0.00001647●●●●●●
142. 33021887 c.1144T>C p.F382L missense 0.00001647●●●●●●
143. 32993995 c.1655T>G p.F552C missense 0.00001647●●●●●●
144. 32945595 c.2560C>T p.H854Y missense 0.00001647●●●●●●
145. 33021983 c.1048G>A p.E350K 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. 33031450 c.364C>T p.R122C missense 0.00000855●●●●●●
159. 33031449 c.365G>T p.R122L missense 0.00000855●●●●●●
160. 33031449 c.365G>A p.R122H 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. 33031405 c.409G>A p.E137K missense 0.00000832●●●●●●
166. 33030829 c.985A>C p.S329R 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. 33030838 c.976G>A p.A326T missense 0.00000830●●●●●●
171. 32994133 c.1517T>C p.L506P missense 0.00000830●●●●●●
172. 32994139 c.1511G>T p.G504V missense 0.00000830●●●●●●
173. 33030843 c.971C>G p.A324G missense 0.00000829●●●●●●
174. 33031065 c.749G>T p.R250L missense 0.00000828●●●●●●
175. 33030864 c.950C>T p.A317V missense 0.00000827●●●●●●
176. 33031960 c.230T>A p.L77H missense 0.00000827●●●●●●
177. 32994095 c.1555A>G p.M519V missense 0.00000827●●●●●●
178. 32994103 c.1547A>C p.K516T missense 0.00000827●●●●●●
179. 33031002 c.812T>G p.V271G missense 0.00000827●●●●●●
180. 33031084 c.730C>T p.P244S missense 0.00000826●●●●●●
181. 33030984 c.830T>C p.L277P missense 0.00000826●●●●●●
182. 33030889 c.925G>A p.A309T missense 0.00000826●●●●●●
183. 33031095 c.719T>C p.L240P missense 0.00000826●●●●●●
184. 33031059 c.755T>C p.M252T missense 0.00000826●●●●●●
185. 33030955 c.859A>G p.R287G missense 0.00000826●●●●●●
186. 33030928 c.886C>A p.H296N missense 0.00000826●●●●●●
187. 33031009 c.805G>A p.G269R missense 0.00000826●●●●●●
188. 33030997 c.817C>T p.P273S missense 0.00000826●●●●●●
189. 33030918 c.896G>A p.R299H missense 0.00000826●●●●●●
190. 33030964 c.850A>G p.R284G missense 0.00000826●●●●●●
191. 32994089 c.1561A>G p.T521A missense 0.00000826●●●●●●
192. 33030968 c.846G>C p.Q282H missense 0.00000826●●●●●●
193. 33031012 c.802G>T p.V268F missense 0.00000826●●●●●●
194. 33030997 c.817C>G p.P273A missense 0.00000826●●●●●●
195. 33030941 c.873T>A p.H291Q missense 0.00000826●●●●●●
196. 33031021 c.793G>A p.G265R missense 0.00000826●●●●●●
197. 33030880 c.934T>C p.S312P missense 0.00000826●●●●●●
198. 32994091 c.1559T>A p.I520K missense 0.00000826●●●●●●
199. 33030952 c.862T>C p.S288P missense 0.00000826●●●●●●
200. 32994083 c.1567G>C p.A523P missense 0.00000825●●●●●●
201. 32975555 c.1817A>G p.N606S missense 0.00000825●●●●●●
202. 33031353 c.461G>A p.S154N missense 0.00000825●●●●●●
203. 32975562 c.1810A>G p.T604A missense 0.00000825●●●●●●
204. 33003895 c.1183C>T p.R395C missense 0.00000825●●●●●●
205. 33031357 c.457G>A p.D153N missense 0.00000825●●●●●●
206. 32949196 c.2336C>G p.P779R missense 0.00000825●●●●●●
207. 32974455 c.1980G>C p.Q660H missense 0.00000825●●●●●●
208. 33031940 c.250C>T p.P84S missense 0.00000825●●●●●●
209. 32977086 c.1699T>A p.S567T missense 0.00000825●●●●●●
210. 33031053 c.761A>C p.N254T missense 0.00000825●●●●●●
211. 33003711 c.1367A>G p.K456R missense 0.00000825●●●●●●
212. 33031347 c.467C>T p.P156L missense 0.00000825●●●●●●
213. 33031364 c.450T>G p.I150M missense 0.00000825●●●●●●
214. 32949197 c.2335C>G p.P779A missense 0.00000825●●●●●●
215. 33021869 c.1162C>T p.R388W missense 0.00000824●●●●●●
216. 32975496 c.1876T>A p.Y626N missense 0.00000824●●●●●●
217. 32949104 c.2428G>A p.A810T missense 0.00000824●●●●●●
218. 32975453 c.1919A>G p.D640G missense 0.00000824●●●●●●
219. 33031915 c.275T>C p.L92S missense 0.00000824●●●●●●
220. 32974429 c.2006G>T p.S669I missense 0.00000824●●●●●●
221. 32945401 c.2603T>A p.V868D missense 0.00000824●●●●●●
222. 32974321 c.2114C>T p.A705V missense 0.00000824●●●●●●
223. 33031865 c.325G>A p.D109N missense 0.00000824●●●●●●
224. 33031293 c.521C>T p.A174V missense 0.00000824●●●●●●
225. 32994013 c.1637C>G p.A546G missense 0.00000824●●●●●●
226. 32993972 c.1678G>A p.G560R missense 0.00000824●●●●●●
227. 32955403 c.2233G>T p.V745L missense 0.00000824●●●●●●
228. 33021868 c.1163G>A p.R388Q missense 0.00000824●●●●●●
229. 32976990 c.1795C>A p.P599T missense 0.00000824●●●●●●
230. 32975469 c.1903C>T p.R635W missense 0.00000824●●●●●●
231. 33003894 c.1184G>C p.R395P missense 0.00000824●●●●●●
232. 33031931 c.259G>C p.V87L missense 0.00000824●●●●●●
233. 32949179 c.2353A>G p.T785A missense 0.00000824●●●●●●
234. 32945653 c.2502C>G p.N834K missense 0.00000824●●●●●●
235. 33003727 c.1351G>A p.D451N missense 0.00000824●●●●●●
236. 32955487 c.2149C>T p.P717S missense 0.00000824●●●●●●
237. 33031258 c.556G>A p.A186T missense 0.00000824●●●●●●
238. 33021936 c.1095G>T p.M365I missense 0.00000824●●●●●●
239. 32977061 c.1724C>G p.A575G missense 0.00000824●●●●●●
240. 33031273 c.541C>G p.Q181E missense 0.00000824●●●●●●
241. 33031158 c.656G>A p.R219K missense 0.00000824●●●●●●
242. 33003816 c.1262A>G p.N421S missense 0.00000824●●●●●●
243. 32975511 c.1861G>A p.E621K missense 0.00000824●●●●●●
244. 32949110 c.2422C>G p.Q808E missense 0.00000824●●●●●●
245. 32945411 c.2593A>G p.T865A missense 0.00000824●●●●●●
246. 32974324 c.2111G>A p.G704E missense 0.00000824●●●●●●
247. 33031870 c.320C>T p.T107I missense 0.00000824●●●●●●
248. 32977076 c.1709C>T p.A570V missense 0.00000824●●●●●●
249. 32955425 c.2211G>A p.M737I missense 0.00000824●●●●●●
250. 32994017 c.1633A>G p.K545E missense 0.00000824●●●●●●
251. 32955466 c.2170G>A p.V724I missense 0.00000824●●●●●●
252. 32976997 c.1788T>G p.D596E missense 0.00000824●●●●●●
253. 32949184 c.2348C>T p.P783L missense 0.00000824●●●●●●
254. 33031216 c.598G>A p.V200M missense 0.00000824●●●●●●
255. 32945654 c.2501A>G p.N834S missense 0.00000824●●●●●●
256. 32945651 c.2504A>G p.K835R missense 0.00000824●●●●●●
257. 32974386 c.2049A>G p.I683M missense 0.00000824●●●●●●
258. 33031897 c.293T>C p.V98A missense 0.00000824●●●●●●
259. 33021978 c.1053G>T p.M351I missense 0.00000824●●●●●●
260. 33021940 c.1091A>T p.H364L missense 0.00000824●●●●●●
261. 33031180 c.634C>T p.R212C missense 0.00000824●●●●●●
262. 33003879 c.1199T>A p.L400H missense 0.00000824●●●●●●
263. 32975535 c.1837A>C p.N613H missense 0.00000824●●●●●●
264. 32949116 c.2416A>G p.S806G missense 0.00000824●●●●●●
265. 32945585 c.2570A>T p.Y857F missense 0.00000824●●●●●●
266. 32975420 c.1952G>A p.R651Q missense 0.00000824●●●●●●
267. 32945628 c.2527C>T p.L843F missense 0.00000824●●●●●●
268. 33031877 c.313C>T p.P105S missense 0.00000824●●●●●●
269. 33031864 c.326A>T p.D109V missense 0.00000824●●●●●●
270. 32974360 c.2075A>G p.K692R missense 0.00000824●●●●●●
271. 33031332 c.482A>G p.Y161C missense 0.00000824●●●●●●
272. 32994028 c.1622G>T p.G541V missense 0.00000824●●●●●●
273. 32955468 c.2168C>T p.T723I missense 0.00000824●●●●●●
274. 33003786 c.1292T>C p.L431S missense 0.00000824●●●●●●
275. 32955430 c.2206A>G p.K736E missense 0.00000824●●●●●●
276. 32976987 c.1798G>A p.D600N missense 0.00000824●●●●●●
277. 33021901 c.1130T>C p.I377T missense 0.00000824●●●●●●
278. 32977031 c.1754C>T p.S585L missense 0.00000824●●●●●●
279. 32955345 c.2291A>G p.N764S missense 0.00000824●●●●●●
280. 33003757 c.1321C>T p.R441W missense 0.00000824●●●●●●
281. 32975446 c.1926C>A p.N642K missense 0.00000824●●●●●●
282. 32945660 c.2495C>T p.A832V missense 0.00000824●●●●●●
283. 32945398 c.2606A>C p.N869T missense 0.00000824●●●●●●
284. 32974314 c.2121G>T p.Q707H missense 0.00000824●●●●●●
285. 32975529 c.1843T>A p.S615T missense 0.00000824●●●●●●
286. 33031284 c.530C>T p.T177I missense 0.00000824●●●●●●
287. 32955414 c.2222G>T p.G741V missense 0.00000824●●●●●●
288. 33021950 c.1081G>C p.E361Q missense 0.00000824●●●●●●
289. 32955364 c.2272C>G p.R758G missense 0.00000824●●●●●●
290. 32975468 c.1904G>A p.R635Q missense 0.00000824●●●●●●
291. 32975538 c.1834C>T p.H612Y missense 0.00000824●●●●●●
292. 32975424 c.1948A>G p.S650G missense 0.00000824●●●●●●
293. 32945648 c.2507C>A p.A836E missense 0.00000824●●●●●●
294. 32955343 c.2293G>C p.E765Q missense 0.00000824●●●●●●
295. 33031891 c.299G>A p.G100D missense 0.00000824●●●●●●
296. 32994051 c.1599C>G p.I533M missense 0.00000824●●●●●●
297. 32955486 c.2150C>G p.P717R missense 0.00000824●●●●●●
298. 32955448 c.2188G>A p.G730S missense 0.00000824●●●●●●
299. 32977035 c.1750G>C p.D584H missense 0.00000824●●●●●●
300. 32955346 c.2290A>C p.N764H missense 0.00000824●●●●●●
301. 32955378 c.2258T>A p.L753Q missense 0.00000824●●●●●●
302. 33031272 c.542A>C p.Q181P missense 0.00000824●●●●●●
303. 32949044 c.2488G>C p.A830P missense 0.00000824●●●●●●
304. 33021917 c.1114G>A p.A372T 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.