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