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. 33049652 c.14G>A p.G5D missense 0.00023929●●●●●●
2. 33049631 c.35A>G p.Y12C missense 0.00019503●●●●●●
3. 33049610 c.56A>C p.Q19P missense 0.00008414●●●●●●
4. 33049590 c.76G>A p.D26N missense 0.01399654●●●●●●
5. 33049589 c.77A>G p.D26G missense 0.00003089●●●●●●
6. 33049588 c.78C>A p.D26E missense 0.00003080●●●●●●
7. 33049556 c.110A>G p.K37R missense 0.00001943●●●●●●
8. 33049535 c.131G>A p.S44N missense 0.00001632●●●●●●
9. 33049530 c.136C>A p.R46S missense 0.00003098●●●●●●
10. 33049520 c.146A>G p.Q49R missense 0.00002829●●●●●●
11. 33049508 c.158G>A p.S53N missense 0.00001195●●●●●●
12. 33049499 c.167T>C p.I56T missense 0.00001110●●●●●●
13. 33049492 c.174G>T p.E58D missense 0.00753651●●●●●●
14. 33049490 c.176A>T p.Q59L missense 0.00010523●●●●●●
15. 33049482 c.184C>A p.Q62K missense 0.00016793●●●●●●
16. 33049472 c.194C>T p.A65V missense 0.00003207●●●●●●
17. 33049458 c.208A>G p.S70G missense 0.00001126●●●●●●
18. 33049457 c.209G>T p.S70I missense 0.02422868●●●●●●
19. 33049457 c.209G>C p.S70T missense 0.00001134●●●●●●
20. 33049444 c.222C>G p.N74K missense 0.00001238●●●●●●
21. 33049443 c.223G>A p.G75R missense 0.00002480●●●●●●
22. 33049437 c.223+6T>A splice site 0.00001306●●●●●●
23. 33031960 c.230T>A p.L77H missense 0.00000827●●●●●●
24. 33031954 c.236G>A p.R79Q missense 0.00001651●●●●●●
25. 33031940 c.250C>T p.P84S missense 0.00000825●●●●●●
26. 33031931 c.259G>C p.V87L missense 0.00000824●●●●●●
27. 33031916 c.274T>G p.L92V missense 0.00001648●●●●●●
28. 33031915 c.275T>C p.L92S missense 0.00000824●●●●●●
29. 33031902 c.288T>G p.D96E missense 0.00003296●●●●●●
30. 33031897 c.293T>C p.V98A missense 0.00000824●●●●●●
31. 33031892 c.298G>A p.G100S missense 0.00001648●●●●●●
32. 33031891 c.299G>A p.G100D missense 0.00000824●●●●●●
33. 33031888 c.302G>A p.R101H missense 0.00011535●●●●●●
34. 33031883 c.307C>A p.P103T missense 0.00011534●●●●●●
35. 33031877 c.313C>G p.P105A missense 0.00001648●●●●●●
36. 33031877 c.313C>T p.P105S missense 0.00000824●●●●●●
37. 33031870 c.320C>T p.T107I missense 0.00000824●●●●●●
38. 33031865 c.325G>A p.D109N missense 0.00000824●●●●●●
39. 33031864 c.326A>T p.D109V missense 0.00000824●●●●●●
40. 33031846 c.336+8A>G splice site 0.00000825●●●●●●
41. 33031483 c.337-6G>A splice site 0.00000874●●●●●●
42. 33031455 c.359A>C p.E120A missense 0.00000857●●●●●●
43. 33031450 c.364C>T p.R122C missense 0.00000855●●●●●●
44. 33031449 c.365G>A p.R122H missense 0.00000855●●●●●●
45. 33031449 c.365G>T p.R122L missense 0.00000855●●●●●●
46. 33031445 c.369G>A p.W123X nonsense 0.00000853●●●●●●
47. 33031408 c.406G>A p.V136M missense 0.00055010●●●●●●
48. 33031408 c.406G>T p.V136L missense 0.00007501●●●●●●
49. 33031405 c.409G>A p.E137K missense 0.00000832●●●●●●
50. 33031400 c.414A>T p.E138D missense 0.00007474●●●●●●
51. 33031395 c.419C>T p.S140F missense 0.00231988●●●●●●
52. 33031364 c.450T>G p.I150M missense 0.00000825●●●●●●
53. 33031357 c.457G>A p.D153N missense 0.00000825●●●●●●
54. 33031353 c.461G>A p.S154N missense 0.00000825●●●●●●
55. 33031350 c.464G>C p.S155T missense 0.00003299●●●●●●
56. 33031347 c.467C>T p.P156L missense 0.00000825●●●●●●
57. 33031341 c.473G>A p.R158K missense 0.00006597●●●●●●
58. 33031332 c.482A>G p.Y161C missense 0.00000824●●●●●●
59. 33031309 c.505A>G p.S169G missense 0.00121987●●●●●●
60. 33031298 c.516C>A p.S172R missense 0.00001648●●●●●●
61. 33031293 c.521C>T p.A174V missense 0.00000824●●●●●●
62. 33031284 c.530C>T p.T177I missense 0.00000824●●●●●●
63. 33031281 c.533T>C p.L178P missense 0.00001648●●●●●●
64. 33031273 c.541C>G p.Q181E missense 0.00000824●●●●●●
65. 33031272 c.542A>C p.Q181P missense 0.00000824●●●●●●
66. 33031266 c.548G>A p.S183N missense 0.00009887●●●●●●
67. 33031261 c.553C>T p.R185W missense 0.00001648●●●●●●
68. 33031260 c.554G>A p.R185Q missense 0.00001648●●●●●●
69. 33031258 c.556G>A p.A186T missense 0.00000824●●●●●●
70. 33031255 c.559G>A p.A187T missense 0.00006591●●●●●●
71. 33031252 c.562C>G p.L188V missense 0.00001648●●●●●●
72. 33031246 c.568G>C p.V190L missense 0.00001648●●●●●●
73. 33031239 c.575C>T p.P192L missense 0.00001648●●●●●●
74. 33031228 c.586C>T p.R196C missense 0.00001648●●●●●●
75. 33031227 c.587G>A p.R196H missense 0.00001648●●●●●●
76. 33031216 c.598G>A p.V200M missense 0.00000824●●●●●●
77. 33031212 c.602G>A p.G201E missense 0.00001648●●●●●●
78. 33031210 c.604delG p.Val202SerfsTer61 frameshift 0.00000824●●●●●●
79. 33031209 c.605T>C p.V202A missense 0.00002471●●●●●●
80. 33031204 c.610C>T p.R204C missense 0.00004119●●●●●●
81. 33031203 c.611G>A p.R204H missense 0.00007414●●●●●●
82. 33031194 c.620C>G p.T207S missense 0.00002472●●●●●●
83. 33031180 c.634C>T p.R212C missense 0.00000824●●●●●●
84. 33031158 c.656G>A p.R219K missense 0.00000824●●●●●●
85. 33031151 c.663C>A p.Y221X nonsense 0.00000824●●●●●●
86. 33031132 c.682G>A p.D228N missense 0.00001649●●●●●●
87. 33031126 c.688G>A p.V230I missense 0.00003300●●●●●●
88. 33031108 c.706G>T p.A236S missense 0.00063563●●●●●●
89. 33031101 c.713C>T p.P238L missense 0.00004129●●●●●●
90. 33031095 c.719T>C p.L240P missense 0.00000826●●●●●●
91. 33031089 c.725C>T p.T242M missense 0.00009084●●●●●●
92. 33031084 c.730C>G p.P244A missense 0.00009910●●●●●●
93. 33031084 c.730C>T p.P244S missense 0.00000826●●●●●●
94. 33031074 c.740G>A p.G247E missense 0.00001656●●●●●●
95. 33031066 c.748C>T p.R250C missense 0.00003305●●●●●●
96. 33031065 c.749G>T p.R250L missense 0.00000828●●●●●●
97. 33031059 c.755T>C p.M252T missense 0.00000826●●●●●●
98. 33031053 c.761A>C p.N254T missense 0.00000825●●●●●●
99. 33031030 c.784C>A p.L262M missense 0.00002477●●●●●●
100. 33031026 c.788C>T p.T263M missense 0.00004129●●●●●●
101. 33031023 c.791C>T p.A264V missense 0.00304697●●●●●●
102. 33031021 c.793G>A p.G265R missense 0.00000826●●●●●●
103. 33031012 c.802G>T p.V268F missense 0.00000826●●●●●●
104. 33031009 c.805G>A p.G269R missense 0.00000826●●●●●●
105. 33031006 c.808C>T p.Q270X nonsense 0.00001652●●●●●●
106. 33031002 c.812T>G p.V271G missense 0.00000827●●●●●●
107. 33030997 c.817C>T p.P273S missense 0.00000826●●●●●●
108. 33030997 c.817C>G p.P273A missense 0.00000826●●●●●●
109. 33030988 c.826C>T p.P276S missense 0.00015700●●●●●●
110. 33030984 c.830T>C p.L277P missense 0.00000826●●●●●●
111. 33030976 c.838G>A p.V280I missense 0.00003305●●●●●●
112. 33030968 c.846G>C p.Q282H missense 0.00000826●●●●●●
113. 33030964 c.850A>G p.R284G missense 0.00000826●●●●●●
114. 33030960 c.854C>T p.A285V missense 0.00001652●●●●●●
115. 33030955 c.859A>G p.R287G missense 0.00000826●●●●●●
116. 33030952 c.862T>C p.S288P missense 0.00000826●●●●●●
117. 33030941 c.873T>A p.H291Q missense 0.00000826●●●●●●
118. 33030928 c.886C>A p.H296N missense 0.00000826●●●●●●
119. 33030925 c.889A>T p.S297C missense 0.00001651●●●●●●
120. 33030921 c.893C>A p.T298N missense 0.00001651●●●●●●
121. 33030919 c.895C>T p.R299C missense 0.00007431●●●●●●
122. 33030918 c.896G>A p.R299H missense 0.00000826●●●●●●
123. 33030915 c.899C>A p.T300K missense 0.00005780●●●●●●
124. 33030900 c.914G>A p.G305E missense 0.00001651●●●●●●
125. 33030889 c.925G>A p.A309T missense 0.00000826●●●●●●
126. 33030886 c.928G>A p.V310M missense 0.00004955●●●●●●
127. 33030880 c.934T>C p.S312P missense 0.00000826●●●●●●
128. 33030876 c.938G>A p.S313N missense 0.00003304●●●●●●
129. 33030874 c.940G>A p.G314R missense 0.00004131●●●●●●
130. 33030873 c.941G>A p.G314E missense 0.00005784●●●●●●
131. 33030864 c.950C>T p.A317V missense 0.00000827●●●●●●
132. 33030861 c.953A>C p.H318P missense 0.00009923●●●●●●
133. 33030850 c.964G>T p.G322C missense 0.00007451●●●●●●
134. 33030850 c.964G>A p.G322S missense 0.00001656●●●●●●
135. 33030846 c.968_969delAG p.Gln323ArgfsTer12 frameshift 0.00004145●●●●●●
136. 33030843 c.971C>T p.A324V missense 0.00001659●●●●●●
137. 33030843 c.971C>G p.A324G missense 0.00000829●●●●●●
138. 33030843 c.971_972insCT p.Ala325TrpfsTer28 frameshift 0.00004148●●●●●●
139. 33030840 c.974C>T p.A325V missense 0.00001660●●●●●●
140. 33030838 c.976G>A p.A326T missense 0.00000830●●●●●●
141. 33030837 c.977C>A p.A326E missense 0.00000831●●●●●●
142. 33030834 c.980G>T p.G327V missense 0.00003325●●●●●●
143. 33030834 c.980G>A p.G327E missense 0.00000831●●●●●●
144. 33030832 c.982G>A p.G328R missense 0.00001663●●●●●●
145. 33030831 c.983G>C p.G328A missense 0.00004159●●●●●●
146. 33030829 c.985A>T p.S329C missense 0.00009981●●●●●●
147. 33030829 c.985A>C p.S329R missense 0.00000832●●●●●●
148. 33030804 c.1010G>A p.S337N missense 0.00002526●●●●●●
149. 33030802 c.1012A>G p.T338A missense 0.00183793●●●●●●
150. 33030801 c.1013C>A p.T338N missense 0.00000844●●●●●●
151. 33030790 c.1024T>C p.S342P missense 0.00002566●●●●●●
152. 33030786 c.1028A>G p.Q343R missense 0.00000861●●●●●●
153. 33030776 c.1034+4A>G splice site 0.00000877●●●●●●
154. 33021986 c.1045A>G p.M349V missense 0.00003295●●●●●●
155. 33021983 c.1048G>A p.E350K missense 0.00001647●●●●●●
156. 33021978 c.1053G>T p.M351I missense 0.00000824●●●●●●
157. 33021968 c.1063C>T p.R355X nonsense 0.00000824●●●●●●
158. 33021967 c.1064G>A p.R355Q missense 0.00002471●●●●●●
159. 33021962 c.1069G>A p.V357M missense 0.00004119●●●●●●
160. 33021950 c.1081G>A p.E361K missense 0.00003295●●●●●●
161. 33021950 c.1081G>C p.E361Q missense 0.00000824●●●●●●
162. 33021940 c.1091A>T p.H364L missense 0.00000824●●●●●●
163. 33021938 c.1093A>G p.M365V missense 0.00035420●●●●●●
164. 33021936 c.1095G>T p.M365I missense 0.00000824●●●●●●
165. 33021934 c.1097T>C p.L366P missense 0.18002142●●●●●●
166. 33021917 c.1114G>C p.A372P missense 0.00052718●●●●●●
167. 33021917 c.1114G>A p.A372T missense 0.00000824●●●●●●
168. 33021904 c.1127T>C p.F376S missense 0.00001647●●●●●●
169. 33021901 c.1130T>C p.I377T missense 0.00000824●●●●●●
170. 33021887 c.1144T>C p.F382L missense 0.00001647●●●●●●
171. 33021869 c.1162C>T p.R388W missense 0.00000824●●●●●●
172. 33021868 c.1163G>A p.R388Q missense 0.00000824●●●●●●
173. 33003918 c.1171-11T>C splice site 0.00288930●●●●●●
174. 33003910 c.1171-3C>T splice site 0.00000828●●●●●●
175. 33003897 c.1181T>A p.L394H missense 0.00001649●●●●●●
176. 33003895 c.1183C>T p.R395C missense 0.00000825●●●●●●
177. 33003894 c.1184G>C p.R395P missense 0.00000824●●●●●●
178. 33003888 c.1190T>A p.I397N missense 0.00002472●●●●●●
179. 33003879 c.1199T>A p.L400H missense 0.00000824●●●●●●
180. 33003847 c.1231G>A p.V411I missense 0.00008237●●●●●●
181. 33003841 c.1237C>T p.R413X nonsense 0.00001647●●●●●●
182. 33003840 c.1238G>A p.R413Q missense 0.00012355●●●●●●
183. 33003816 c.1262A>G p.N421S missense 0.00000824●●●●●●
184. 33003786 c.1292T>C p.L431S missense 0.00000824●●●●●●
185. 33003762 c.1316T>G p.V439G missense 0.00001647●●●●●●
186. 33003757 c.1321C>T p.R441W missense 0.00000824●●●●●●
187. 33003756 c.1322G>A p.R441Q missense 0.00002471●●●●●●
188. 33003727 c.1351G>A p.D451N missense 0.00000824●●●●●●
189. 33003711 c.1367A>G p.K456R missense 0.00000825●●●●●●
190. 33003706 c.1372A>G p.I458V missense 0.00129534●●●●●●
191. 33003698 c.1378+2T>A essential splice site 0.00000826●●●●●●
192. 32996251 c.1379-4A>G splice site 0.00000832●●●●●●
193. 32996248 c.1379-1G>A essential splice site 0.00014985●●●●●●
194. 32996246 c.1380C>T splice site 0.00000833●●●●●●
195. 32996242 c.1384A>G p.T462A missense 0.00001665●●●●●●
196. 32996241 c.1385C>G p.T462R missense 0.00004164●●●●●●
197. 32996239 c.1387G>A p.V463I missense 0.00000833●●●●●●
198. 32996217 c.1409G>C p.G470A missense 0.00000836●●●●●●
199. 32996211 c.1415C>T p.P472L missense 0.00001677●●●●●●
200. 32996206 c.1420G>A p.A474T missense 0.00025273●●●●●●
201. 32996205 c.1421C>T p.A474V missense 0.00021080●●●●●●
202. 32996202 c.1424T>G p.V475G missense 0.00001692●●●●●●
203. 32996193 c.1433C>T p.A478V missense 0.00022471●●●●●●
204. 32996184 c.1442C>T p.P481L missense 0.00001776●●●●●●
205. 32996172 c.1454G>T p.G485V missense 0.00000936●●●●●●
206. 32996167 c.1459C>A p.Q487K missense 0.00000981●●●●●●
207. 32996166 c.1460A>G p.Q487R missense 0.00002008●●●●●●
208. 32996164 c.1462G>A p.G488S missense 0.00008059●●●●●●
209. 32996161 c.1465G>A p.G489R missense 0.00008684●●●●●●
210. 32996158 c.1468C>T p.R490W missense 0.00061462●●●●●●
211. 32996157 c.1469G>A p.R490Q missense 0.00010635●●●●●●
212. 32996151 c.1475_1476insCT p.Arg493Ter frameshift 0.00002799●●●●●●
213. 32996146 c.1480T>G p.S494A missense 0.00001458●●●●●●
214. 32996142 c.1484G>A p.G495E missense 0.00001556●●●●●●
215. 32996139 c.1487T>A p.V496D missense 0.00005050●●●●●●
216. 32996137 c.1489C>T p.R497X nonsense 0.00003606●●●●●●
217. 32996136 c.1490G>A p.R497Q missense 0.00019311●●●●●●
218. 32996134 c.1492G>A p.D498N missense 0.00002006●●●●●●
219. 32996128 c.1498C>T p.P500S missense 0.00004734●●●●●●
220. 32996122 c.1504C>T p.Q502X nonsense 0.00002854●●●●●●
221. 32994144 c.1511-5T>C splice site 0.00001662●●●●●●
222. 32994140 c.1511-1G>T essential splice site 0.00000830●●●●●●
223. 32994139 c.1511G>T p.G504V missense 0.00000830●●●●●●
224. 32994133 c.1517T>C p.L506P missense 0.00000830●●●●●●
225. 32994103 c.1547A>C p.K516T missense 0.00000827●●●●●●
226. 32994100 c.1550A>G p.N517S missense 0.00042184●●●●●●
227. 32994095 c.1555A>G p.M519V missense 0.00000827●●●●●●
228. 32994092 c.1558A>G p.I520V missense 0.00002479●●●●●●
229. 32994091 c.1559T>A p.I520K missense 0.00000826●●●●●●
230. 32994089 c.1561A>G p.T521A missense 0.00000826●●●●●●
231. 32994083 c.1567G>C p.A523P missense 0.00000825●●●●●●
232. 32994076 c.1574T>G p.L525R missense 0.00001650●●●●●●
233. 32994074 c.1576A>G p.T526A missense 0.00014849●●●●●●
234. 32994073 c.1577C>T p.T526M missense 0.00230133●●●●●●
235. 32994067 c.1583C>T p.T528M missense 0.00002474●●●●●●
236. 32994062 c.1588A>G p.N530D missense 0.00002473●●●●●●
237. 32994061 c.1589A>T p.N530I missense 0.00010714●●●●●●
238. 32994058 c.1592T>G p.I531S missense 0.00472203●●●●●●
239. 32994051 c.1599C>G p.I533M missense 0.00000824●●●●●●
240. 32994037 c.1613G>A p.W538X nonsense 0.00001648●●●●●●
241. 32994035 c.1615C>G p.P539A missense 0.00004119●●●●●●
242. 32994028 c.1622G>T p.G541V missense 0.00000824●●●●●●
243. 32994017 c.1633A>G p.K545E missense 0.00000824●●●●●●
244. 32994014 c.1636G>A p.A546T missense 0.00021417●●●●●●
245. 32994013 c.1637C>G p.A546G missense 0.00000824●●●●●●
246. 32994008 c.1642G>T p.G548C missense 0.00001647●●●●●●
247. 32993999 c.1651G>A p.D551N missense 0.00003295●●●●●●
248. 32993995 c.1655T>G p.F552C missense 0.00001647●●●●●●
249. 32993990 c.1660A>G p.I554V missense 0.00003295●●●●●●
250. 32993981 c.1669A>G p.N557D missense 0.00005766●●●●●●
251. 32993978 c.1672G>A p.V558I missense 0.00004119●●●●●●
252. 32993972 c.1678G>A p.G560R missense 0.00000824●●●●●●
253. 32993964 c.1686A>G splice site 0.00000824●●●●●●
254. 32993955 c.1688+7C>T splice site 0.00002472●●●●●●
255. 32993953 c.1688+9A>G splice site 0.00049444●●●●●●
256. 32977104 c.1689-8dupT splice site 0.00388513●●●●●●
257. 32977097 c.1689-1G>C essential splice site 0.00000826●●●●●●
258. 32977086 c.1699T>A p.S567T missense 0.00000825●●●●●●
259. 32977077 c.1708G>A p.A570T missense 0.00001649●●●●●●
260. 32977076 c.1709C>T p.A570V missense 0.00000824●●●●●●
261. 32977074 c.1711G>A p.D571N missense 0.00001649●●●●●●
262. 32977061 c.1724C>G p.A575G missense 0.00000824●●●●●●
263. 32977035 c.1750G>C p.D584H missense 0.00000824●●●●●●
264. 32977031 c.1754C>T p.S585L missense 0.00000824●●●●●●
265. 32977026 c.1759G>A p.V587I missense 0.00236506●●●●●●
266. 32976997 c.1788T>G p.D596E missense 0.00000824●●●●●●
267. 32976990 c.1795C>A p.P599T missense 0.00000824●●●●●●
268. 32976987 c.1798G>A p.D600N missense 0.00000824●●●●●●
269. 32976976 c.1806+3A>G splice site 0.00000825●●●●●●
270. 32975562 c.1810A>G p.T604A missense 0.00000825●●●●●●
271. 32975561 c.1811C>T p.T604M missense 0.00004126●●●●●●
272. 32975555 c.1817A>G p.N606S missense 0.00000825●●●●●●
273. 32975551 c.1821dupT frameshift 0.00000825●●●●●●
274. 32975538 c.1834C>T p.H612Y missense 0.00000824●●●●●●
275. 32975535 c.1837A>C p.N613H missense 0.00000824●●●●●●
276. 32975529 c.1843T>A p.S615T missense 0.00000824●●●●●●
277. 32975511 c.1861G>A p.E621K missense 0.00000824●●●●●●
278. 32975500 c.1872G>T p.E624D missense 0.00006593●●●●●●
279. 32975497 c.1875delA p.Lys625AsnfsTer31 frameshift 0.00000824●●●●●●
280. 32975496 c.1876T>A p.Y626N missense 0.00000824●●●●●●
281. 32975484 c.1888A>G p.I630V missense 0.00002472●●●●●●
282. 32975483 c.1889T>C p.I630T missense 0.00001648●●●●●●
283. 32975469 c.1903C>T p.R635W missense 0.00000824●●●●●●
284. 32975468 c.1904G>A p.R635Q missense 0.00000824●●●●●●
285. 32975453 c.1919A>G p.D640G missense 0.00000824●●●●●●
286. 32975446 c.1926_1928delCAA inframe 0.00001648●●●●●●
287. 32975446 c.1926C>A p.N642K missense 0.00000824●●●●●●
288. 32975444 c.1928A>G p.K643R missense 0.00003297●●●●●●
289. 32975431 c.1941T>G p.C647W missense 0.00001648●●●●●●
290. 32975424 c.1948A>G p.S650G missense 0.00000824●●●●●●
291. 32975421 c.1951C>T p.R651X nonsense 0.00000824●●●●●●
292. 32975420 c.1952G>A p.R651Q missense 0.00000824●●●●●●
293. 32975415 c.1957A>G p.R653G missense 0.00002473●●●●●●
294. 32974469 c.1972-6G>T splice site 0.00000826●●●●●●
295. 32974468 c.1972-5G>C splice site 0.00002478●●●●●●
296. 32974461 c.1974A>G p.Q658Q splice site 0.00004127●●●●●●
297. 32974457 c.1978C>T p.Q660X nonsense 0.00000825●●●●●●
298. 32974456 c.1979A>G p.Q660R missense 0.00001650●●●●●●
299. 32974455 c.1980G>C p.Q660H missense 0.00000825●●●●●●
300. 32974451 c.1984G>A p.V662M missense 0.00001650●●●●●●
301. 32974441 c.1994C>G p.P665R missense 0.00002474●●●●●●
302. 32974429 c.2006G>T p.S669I missense 0.00000824●●●●●●
303. 32974415 c.2020G>A p.V674M missense 0.00006593●●●●●●
304. 32974414 c.2021T>C p.V674A missense 0.00006592●●●●●●
305. 32974386 c.2049A>G p.I683M missense 0.00000824●●●●●●
306. 32974380 c.2055G>A p.M685I missense 0.00001648●●●●●●
307. 32974373 c.2062T>C p.S688P missense 0.00003296●●●●●●
308. 32974364 c.2071G>A p.A691T missense 0.00001648●●●●●●
309. 32974361 c.2074A>T p.K692X nonsense 0.00000824●●●●●●
310. 32974360 c.2075A>G p.K692R missense 0.00000824●●●●●●
311. 32974358 c.2077A>G p.S693G missense 0.00001649●●●●●●
312. 32974355 c.2080G>A p.V694I missense 0.00003297●●●●●●
313. 32974352 c.2083C>T p.R695C missense 0.00014838●●●●●●
314. 32974351 c.2084G>A p.R695H missense 0.00002473●●●●●●
315. 32974348 c.2087A>G p.N696S missense 0.00017310●●●●●●
316. 32974345 c.2090A>G p.Y697C missense 0.00001649●●●●●●
317. 32974324 c.2111G>A p.G704E missense 0.00000824●●●●●●
318. 32974321 c.2114C>T p.A705V missense 0.00000824●●●●●●
319. 32974314 c.2121G>T p.Q707H missense 0.00000824●●●●●●
320. 32974306 c.2129C>T p.T710M missense 0.00006597●●●●●●
321. 32974301 c.2134G>A p.G712R missense 0.00002475●●●●●●
322. 32955491 c.2146-1G>C essential splice site 0.00004944●●●●●●
323. 32955487 c.2149C>T p.P717S missense 0.00000824●●●●●●
324. 32955486 c.2150C>T p.P717L missense 0.00013183●●●●●●
325. 32955486 c.2150C>G p.P717R missense 0.00000824●●●●●●
326. 32955468 c.2168C>T p.T723I missense 0.00000824●●●●●●
327. 32955466 c.2170G>A p.V724I missense 0.00000824●●●●●●
328. 32955448 c.2188G>A p.G730S missense 0.00000824●●●●●●
329. 32955432 c.2204G>A p.R735Q missense 0.00005766●●●●●●
330. 32955430 c.2206A>G p.K736E missense 0.00000824●●●●●●
331. 32955425 c.2211G>A p.M737I missense 0.00000824●●●●●●
332. 32955414 c.2222G>T p.G741V missense 0.00000824●●●●●●
333. 32955403 c.2233G>T p.V745L missense 0.00000824●●●●●●
334. 32955378 c.2258T>A p.L753Q missense 0.00000824●●●●●●
335. 32955364 c.2272C>T p.R758W missense 0.00001648●●●●●●
336. 32955364 c.2272C>G p.R758G missense 0.00000824●●●●●●
337. 32955363 c.2273G>A p.R758Q missense 0.00004943●●●●●●
338. 32955351 c.2285T>C p.L762P missense 0.00001648●●●●●●
339. 32955346 c.2290A>C p.N764H missense 0.00000824●●●●●●
340. 32955345 c.2291A>G p.N764S missense 0.00000824●●●●●●
341. 32955343 c.2293G>C p.E765Q missense 0.00000824●●●●●●
342. 32955330 c.2299+7C>T splice site 0.03238940●●●●●●
343. 32955329 c.2299+8G>A splice site 0.00004945●●●●●●
344. 32955326 c.2299+11A>G splice site 0.00001649●●●●●●
345. 32949238 c.2300-6T>C splice site 0.00017741●●●●●●
346. 32949236 c.2300-4G>C splice site 0.00008079●●●●●●
347. 32949236 c.2300-4G>A splice site 0.00000898●●●●●●
348. 32949229 c.2303A>C p.K768T missense 0.00008410●●●●●●
349. 32949225 c.2307A>T p.E769D missense 0.00000834●●●●●●
350. 32949221 c.2311C>G p.L771V missense 0.00000831●●●●●●
351. 32949200 c.2332A>G p.I778V missense 0.00004949●●●●●●
352. 32949197 c.2335C>G p.P779A missense 0.00000825●●●●●●
353. 32949196 c.2336C>G p.P779R missense 0.00000825●●●●●●
354. 32949184 c.2348C>T p.P783L missense 0.00000824●●●●●●
355. 32949179 c.2353A>G p.T785A missense 0.00000824●●●●●●
356. 32949167 c.2365A>G p.I789V missense 0.00035428●●●●●●
357. 32949166 c.2366T>C p.I789T missense 0.00002472●●●●●●
358. 32949166 c.2366T>A p.I789N missense 0.00003295●●●●●●
359. 32949140 c.2392A>G p.T798A missense 0.00077426●●●●●●
360. 32949116 c.2416A>G p.S806G missense 0.00000824●●●●●●
361. 32949110 c.2422C>G p.Q808E missense 0.00000824●●●●●●
362. 32949104 c.2428G>A p.A810T missense 0.00000824●●●●●●
363. 32949101 c.2431C>A p.R811S missense 0.00086482●●●●●●
364. 32949101 c.2431C>T p.R811C missense 0.00004118●●●●●●
365. 32949100 c.2432G>A p.R811H missense 0.00002471●●●●●●
366. 32949098 c.2434G>A p.D812N missense 0.00004942●●●●●●
367. 32949083 c.2449G>A p.G817R missense 0.00002471●●●●●●
368. 32949068 c.2464A>G p.I822V missense 0.00005766●●●●●●
369. 32949050 c.2482G>A p.G828S missense 0.00008237●●●●●●
370. 32949047 c.2485G>A p.D829N missense 0.00045304●●●●●●
371. 32949045 c.2487T>C p.D829D splice site 0.00009061●●●●●●
372. 32949044 c.2488G>C p.A830P missense 0.00000824●●●●●●
373. 32949042 c.2489+1G>A essential splice site 0.00002471●●●●●●
374. 32945671 c.2490-6T>C splice site 0.00002472●●●●●●
375. 32945663 c.2492A>G p.Y831C missense 0.00007415●●●●●●
376. 32945660 c.2495C>T p.A832V missense 0.00000824●●●●●●
377. 32945654 c.2501A>G p.N834S missense 0.00000824●●●●●●
378. 32945653 c.2502C>G p.N834K missense 0.00000824●●●●●●
379. 32945651 c.2504A>G p.K835R missense 0.00000824●●●●●●
380. 32945648 c.2507C>A p.A836E missense 0.00000824●●●●●●
381. 32945631 c.2524G>A p.V842I missense 0.00004942●●●●●●
382. 32945628 c.2527C>T p.L843F missense 0.00000824●●●●●●
383. 32945618 c.2537C>T p.S846F missense 0.00003295●●●●●●
384. 32945612 c.2543G>C p.W848S missense 0.00002471●●●●●●
385. 32945603 c.2552C>T p.T851M missense 0.00005766●●●●●●
386. 32945595 c.2560C>T p.H854Y missense 0.00001647●●●●●●
387. 32945585 c.2570A>T p.Y857F missense 0.00000824●●●●●●
388. 32945433 c.2578-7T>G splice site 0.00000824●●●●●●
389. 32945431 c.2578-5C>T splice site 0.00000824●●●●●●
390. 32945430 c.2578-4A>C splice site 0.00000824●●●●●●
391. 32945411 c.2593A>G p.T865A missense 0.00000824●●●●●●
392. 32945401 c.2603T>A p.V868D missense 0.00000824●●●●●●
393. 32945398 c.2606A>C p.N869T missense 0.00000824●●●●●●
394. 32945393 c.2611C>T p.R871W missense 0.00001648●●●●●●
395. 32945392 c.2612G>A p.R871Q missense 0.00005766●●●●●●
396. 32945376 c.2628C>A p.Y876X nonsense 0.00000824●●●●●●
397. 32945373 c.2631C>A p.H877Q missense 0.00017300●●●●●●
398. 32945368 c.2636T>C p.L879P missense 0.00001648●●●●●●

* 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.