JUP variants in ExAC

JUP gene summary
JUP variants in DCM

The table below lists the JUP 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. 39912145 c.2089A>T p.M697L missense 0.65923631●●●●●●
2. 39925713 c.425G>A p.R142H missense 0.04974306●●●●●●
3. 39914957 c.1653+10C>A splice site 0.01870611●●●●●●
4. 39913771 c.1942G>A p.V648I missense 0.00743084●●●●●●
5. 39911975 c.*14+7C>A splice site 0.00318013●●●●●●
6. 39914042 c.1774-6C>T splice site 0.00229239●●●●●●
7. 39923625 c.909+6C>T splice site 0.00178439●●●●●●
8. 39925401 c.527G>A p.R176Q missense 0.00108275●●●●●●
9. 39911978 c.*14+4C>A splice site 0.00067245●●●●●●
10. 39914003 c.1807G>T p.V603L missense 0.00066043●●●●●●
11. 39912454 c.2059A>G p.I687V missense 0.00031466●●●●●●
12. 39919366 c.1366G>A p.V456I missense 0.00029675●●●●●●
13. 39912027 c.2207C>T p.P736L missense 0.00025867●●●●●●
14. 39919560 c.1172G>A p.S391N missense 0.00023171●●●●●●
15. 39913878 c.1924+8G>C splice site 0.00022246●●●●●●
16. 39921271 c.958C>T p.R320C missense 0.00018950●●●●●●
17. 39919562 c.1170G>T p.E390D missense 0.00018231●●●●●●
18. 39915113 c.1507G>A p.G503S missense 0.00016904●●●●●●
19. 39925234 c.694G>A p.V232I missense 0.00016862●●●●●●
20. 39913948 c.1862T>C p.I621T missense 0.00016359●●●●●●
21. 39925368 c.560C>T p.A187V missense 0.00012886●●●●●●
22. 39923836 c.708-4C>G splice site 0.00011593●●●●●●
23. 39919528 c.1204G>A p.V402M missense 0.00011543●●●●●●
24. 39928051 c.56C>T p.T19I missense 0.00011388●●●●●●
25. 39925711 c.427G>A p.A143T missense 0.00010731●●●●●●
26. 39913667 c.2046T>A splice site 0.00010708●●●●●●
27. 39919519 c.1213G>A p.V405I missense 0.00009891●●●●●●
28. 39913731 c.1982G>A p.R661Q missense 0.00009884●●●●●●
29. 39925803 c.335A>G p.N112S missense 0.00009881●●●●●●
30. 39915038 c.1582G>A p.V528I missense 0.00009868●●●●●●
31. 39912132 c.2102A>G p.Y701C missense 0.00009202●●●●●●
32. 39915001 c.1619G>A p.R540H missense 0.00009106●●●●●●
33. 39919360 c.1372G>A p.A458T missense 0.00008243●●●●●●
34. 39921194 c.1035G>C p.K345N missense 0.00008240●●●●●●
35. 39911978 c.*14+4C>T splice site 0.00008178●●●●●●
36. 39913900 c.1910G>A p.R637H missense 0.00007771●●●●●●
37. 39912444 c.2069A>G p.N690S missense 0.00007657●●●●●●
38. 39912129 c.2105G>A p.R702H missense 0.00007536●●●●●●
39. 39923648 c.892G>A p.G298S missense 0.00007429●●●●●●
40. 39919377 c.1355C>T p.T452M missense 0.00007418●●●●●●
41. 39925267 c.661G>A p.A221T missense 0.00007040●●●●●●
42. 39913928 c.1882G>A p.A628T missense 0.00006912●●●●●●
43. 39925402 c.526C>T p.R176W missense 0.00006811●●●●●●
44. 39921279 c.950A>C p.Q317P missense 0.00006591●●●●●●
45. 39912019 c.2215A>G p.T739A missense 0.00006098●●●●●●
46. 39913960 c.1850C>T p.A617V missense 0.00006020●●●●●●
47. 39914695 c.1729C>T p.R577C missense 0.00005790●●●●●●
48. 39919353 c.1379G>A p.R460H missense 0.00005771●●●●●●
49. 39919373 c.1359G>T p.E453D missense 0.00005770●●●●●●
50. 39921168 c.1054+7A>T splice site 0.00005768●●●●●●
51. 39913732 c.1981C>T p.R661W missense 0.00005766●●●●●●
52. 39925890 c.248A>G p.K83R missense 0.00005529●●●●●●
53. 39925806 c.332C>T p.T111I missense 0.00005500●●●●●●
54. 39913930 c.1880C>T p.S627L missense 0.00005182●●●●●●
55. 39928086 c.21G>C p.M7I missense 0.00005178●●●●●●
56. 39913898 c.1912A>C p.N638H missense 0.00005164●●●●●●
57. 39925399 c.529C>T p.R177W missense 0.00005130●●●●●●
58. 39921303 c.926A>T p.N309I missense 0.00004945●●●●●●
59. 39919452 c.1280C>T p.T427M missense 0.00004943●●●●●●
60. 39925842 c.296C>T p.S99L missense 0.00004579●●●●●●
61. 39925321 c.607C>T p.R203C missense 0.00004577●●●●●●
62. 39925863 c.275G>A p.G92D missense 0.00004562●●●●●●
63. 39925872 c.266T>C p.M89T missense 0.00004535●●●●●●
64. 39914006 c.1804C>T p.R602C missense 0.00004351●●●●●●
65. 39925350 c.578T>C p.M193T missense 0.00004344●●●●●●
66. 39925360 c.568G>A p.V190M missense 0.00004317●●●●●●
67. 39925453 c.475G>T p.V159L missense 0.00004237●●●●●●
68. 39925782 c.356C>T p.P119L missense 0.00004155●●●●●●
69. 39927998 c.109G>A p.V37I missense 0.00004133●●●●●●
70. 39927946 c.161C>T p.T54M missense 0.00004126●●●●●●
71. 39919332 c.1400C>T p.P467L missense 0.00004121●●●●●●
72. 39919408 c.1324A>T p.I442F missense 0.00004120●●●●●●
73. 39921270 c.959G>A p.R320H missense 0.00004119●●●●●●
74. 39925246 c.682A>G p.I228V missense 0.00003940●●●●●●
75. 39925320 c.608G>A p.R203H missense 0.00003684●●●●●●
76. 39925333 c.595C>G p.L199V missense 0.00003565●●●●●●
77. 39925383 c.545C>T p.S182L missense 0.00003457●●●●●●
78. 39925852 c.286G>A p.E96K missense 0.00003453●●●●●●
79. 39925438 c.490A>G p.M164V missense 0.00003381●●●●●●
80. 39925419 c.509C>T p.S170L missense 0.00003377●●●●●●
81. 39925885 c.253G>C p.V85L missense 0.00003357●●●●●●
82. 39912067 c.2167_2172delGACTAC p.D723_Y724del2 inframe 0.00003351●●●●●●
83. 39925887 c.251G>A p.R84Q missense 0.00003346●●●●●●
84. 39912112 c.2122G>A p.D708N missense 0.00003342●●●●●●
85. 39920955 c.1158+10G>T splice site 0.00003308●●●●●●
86. 39923762 c.778G>A p.A260T missense 0.00003303●●●●●●
87. 39920993 c.1130G>A p.R377H missense 0.00003301●●●●●●
88. 39921303 c.926A>G p.N309S missense 0.00003297●●●●●●
89. 39919302 c.1430G>A p.R477H missense 0.00003297●●●●●●
90. 39919401 c.1331G>A p.R444H missense 0.00003296●●●●●●
91. 39913780 c.1933G>A p.A645T missense 0.00003296●●●●●●
92. 39915043 c.1577G>A p.R526H missense 0.00003265●●●●●●
93. 39925216 c.707+5C>A splice site 0.00003178●●●●●●
94. 39925786 c.352G>A p.E118K missense 0.00003174●●●●●●
95. 39925927 c.211G>T p.D71Y missense 0.00003051●●●●●●
96. 39925231 c.697C>T p.R233C missense 0.00002873●●●●●●
97. 39925304 c.624C>G p.I208M missense 0.00002871●●●●●●
98. 39914967 c.1653G>C splice site 0.00002807●●●●●●
99. 39914044 c.1774-8C>T splice site 0.00002680●●●●●●
100. 39914026 c.1784C>T p.S595L missense 0.00002649●●●●●●
101. 39913901 c.1909C>T p.R637C missense 0.00002588●●●●●●
102. 39915002 c.1618C>T p.R540C missense 0.00002578●●●●●●
103. 39925398 c.530G>A p.R177Q missense 0.00002568●●●●●●
104. 39912435 c.2078A>G p.Y693C missense 0.00002563●●●●●●
105. 39912130 c.2104C>T p.R702C missense 0.00002510●●●●●●
106. 39912089 c.2145G>C p.E715D missense 0.00002507●●●●●●
107. 39912106 c.2128C>T p.P710S missense 0.00002505●●●●●●
108. 39927910 c.197C>T p.P66L missense 0.00002479●●●●●●
109. 39920994 c.1129C>A p.R377S missense 0.00002476●●●●●●
110. 39923731 c.809T>A p.L270Q missense 0.00002475●●●●●●
111. 39923707 c.833A>G p.N278S missense 0.00002474●●●●●●
112. 39923722 c.818T>C p.M273T missense 0.00002474●●●●●●
113. 39919513 c.1219G>A p.V407I missense 0.00002472●●●●●●
114. 39921229 c.1000G>A p.V334M missense 0.00002472●●●●●●
115. 39921262 c.967A>G p.S323G missense 0.00002471●●●●●●
116. 39925667 c.468+3C>A splice site 0.00002312●●●●●●
117. 39925671 c.467C>T p.P156L missense 0.00002240●●●●●●
118. 39925798 c.340C>T p.Q114X nonsense 0.00002172●●●●●●
119. 39925795 c.343C>T p.R115X nonsense 0.00002169●●●●●●
120. 39925794 c.344G>A p.R115Q missense 0.00002152●●●●●●
121. 39915044 c.1576C>T p.R526C missense 0.00002146●●●●●●
122. 39925920 c.218A>C p.E73A missense 0.00002107●●●●●●
123. 39925702 c.436G>A p.E146K missense 0.00001974●●●●●●
124. 39925295 c.633C>A p.N211K missense 0.00001965●●●●●●
125. 39925726 c.412G>A p.E138K missense 0.00001927●●●●●●
126. 39925732 c.406G>A p.D136N missense 0.00001919●●●●●●
127. 39914003 c.1807G>A p.V603M missense 0.00001738●●●●●●
128. 39925356 c.572G>A p.R191H missense 0.00001732●●●●●●
129. 39925360 c.568G>T p.V190L missense 0.00001727●●●●●●
130. 39913934 c.1876G>A p.A626T missense 0.00001724●●●●●●
131. 39912420 c.2086+7G>C splice site 0.00001724●●●●●●
132. 39914757 c.1667T>C p.M556T missense 0.00001702●●●●●●
133. 39925404 c.524C>T p.S175L missense 0.00001699●●●●●●
134. 39925408 c.520G>A p.A174T missense 0.00001694●●●●●●
135. 39912043 c.2191G>A p.D731N missense 0.00001692●●●●●●
136. 39912096 c.2138C>T p.P713L missense 0.00001671●●●●●●
137. 39914709 c.1715G>A p.R572Q missense 0.00001656●●●●●●
138. 39927898 c.208+1G>A essential splice site 0.00001655●●●●●●
139. 39914671 c.1753A>G p.T585A missense 0.00001654●●●●●●
140. 39927992 c.115A>G p.S39G missense 0.00001652●●●●●●
141. 39923644 c.896A>G p.N299S missense 0.00001651●●●●●●
142. 39923650 c.890A>G p.Y297C missense 0.00001651●●●●●●
143. 39919277 c.1455C>G p.I485M missense 0.00001650●●●●●●
144. 39923671 c.869A>C p.D290A missense 0.00001650●●●●●●
145. 39919354 c.1378C>T p.R460C missense 0.00001649●●●●●●
146. 39923713 c.827T>G p.L276R missense 0.00001649●●●●●●
147. 39913761 c.1952G>A p.R651H missense 0.00001648●●●●●●
148. 39919510 c.1222C>T p.L408F missense 0.00001648●●●●●●
149. 39919339 c.1393C>T p.R465C missense 0.00001648●●●●●●
150. 39919396 c.1336G>T p.G446C missense 0.00001648●●●●●●
151. 39919399 c.1333G>C p.A445P missense 0.00001648●●●●●●
152. 39919402 c.1330C>T p.R444C missense 0.00001648●●●●●●
153. 39919497 c.1235C>T p.T412M missense 0.00001648●●●●●●
154. 39919515 c.1217A>G p.N406S missense 0.00001648●●●●●●
155. 39921190 c.1039G>A p.A347T missense 0.00001648●●●●●●
156. 39921259 c.970T>A p.Y324N missense 0.00001648●●●●●●
157. 39913683 c.2030C>T p.P677L missense 0.00001647●●●●●●
158. 39913689 c.2024A>G p.H675R missense 0.00001647●●●●●●
159. 39925214 c.707+7A>G splice site 0.00001613●●●●●●
160. 39925221 c.707G>A p.S236N missense 0.00001542●●●●●●
161. 0 c.-8-5C>T splice site 0.00001440●●●●●●
162. 39914964 c.1653+3A>G splice site 0.00001393●●●●●●
163. 39914964 c.1653+3A>T splice site 0.00001393●●●●●●
164. 39925236 c.692T>C p.L231P missense 0.00001380●●●●●●
165. 39914978 c.1642C>G p.Q548E missense 0.00001377●●●●●●
166. 39914986 c.1634G>A p.G545D missense 0.00001358●●●●●●
167. 39914989 c.1631C>T p.A544V missense 0.00001348●●●●●●
168. 39914996 c.1624G>A p.V542I missense 0.00001318●●●●●●
169. 39914998 c.1622A>C p.H541P missense 0.00001305●●●●●●
170. 39925254 c.674C>T p.S225L missense 0.00001247●●●●●●
171. 39925257 c.671A>T p.K224M missense 0.00001222●●●●●●
172. 39915014 c.1606C>G p.Q536E missense 0.00001221●●●●●●
173. 39928101 c.6G>T p.E2D missense 0.00001154●●●●●●
174. 39925848 c.290A>T p.D97V missense 0.00001147●●●●●●
175. 39925864 c.274G>T p.G92C missense 0.00001142●●●●●●
176. 39925876 c.262G>A p.A88T missense 0.00001135●●●●●●
177. 39925875 c.263C>A p.A88D missense 0.00001134●●●●●●
178. 39925875 c.263C>G p.A88G missense 0.00001134●●●●●●
179. 39925881 c.257G>C p.R86P missense 0.00001128●●●●●●
180. 39925272 c.656T>C p.L219P missense 0.00001127●●●●●●
181. 39925273 c.655C>A p.L219M missense 0.00001125●●●●●●
182. 39925885 c.253G>A p.V85M missense 0.00001119●●●●●●
183. 39925888 c.250C>T p.R84W missense 0.00001114●●●●●●
184. 39928095 c.12G>T p.M4I missense 0.00001113●●●●●●
185. 39915043 c.1577G>T p.R526L missense 0.00001088●●●●●●
186. 39925281 c.647G>A p.R216Q missense 0.00001078●●●●●●
187. 39925678 c.460G>A p.E154K missense 0.00001075●●●●●●
188. 39925908 c.230C>T p.S77F missense 0.00001070●●●●●●
189. 39925910 c.228G>A p.M76I missense 0.00001067●●●●●●
190. 39925911 c.227T>G p.M76R missense 0.00001064●●●●●●
191. 39925679 c.459C>A p.D153E missense 0.00001063●●●●●●
192. 39925912 c.226A>C p.M76L missense 0.00001063●●●●●●
193. 39925681 c.457G>A p.D153N missense 0.00001049●●●●●●
194. 39925285 c.643C>T p.H215Y missense 0.00001040●●●●●●
195. 39925682 c.456C>G p.N152K missense 0.00001040●●●●●●
196. 39928087 c.20T>C p.M7T missense 0.00001035●●●●●●
197. 39925928 c.210T>C splice site 0.00001018●●●●●●
198. 39925774 c.364C>A p.L122M missense 0.00001006●●●●●●
199. 39925294 c.634C>G p.L212V missense 0.00000987●●●●●●
200. 39925764 c.374C>T p.S125L missense 0.00000981●●●●●●
201. 39925705 c.433C>T p.P145S missense 0.00000980●●●●●●
202. 39925724 c.414G>C p.E138D missense 0.00000962●●●●●●
203. 39915092 c.1528C>G p.L510V missense 0.00000945●●●●●●
204. 39915094 c.1526C>A p.A509D missense 0.00000945●●●●●●
205. 39928076 c.31A>G p.I11V missense 0.00000945●●●●●●
206. 39925925 c.213T>A p.D71E missense 0.00000935●●●●●●
207. 39925323 c.605C>G p.A202G missense 0.00000910●●●●●●
208. 0 c.*14+5G>A splice site 0.00000910●●●●●●
209. 39928067 c.40A>C p.T14P missense 0.00000904●●●●●●
210. 39911984 c.*12C>T splice site 0.00000904●●●●●●
211. 39925327 c.601A>G p.T201A missense 0.00000900●●●●●●
212. 39928066 c.41C>T p.T14I missense 0.00000900●●●●●●
213. 39925336 c.592G>A p.D198N missense 0.00000888●●●●●●
214. 39925337 c.591C>A p.S197R missense 0.00000885●●●●●●
215. 39928058 c.49C>T p.Q17X nonsense 0.00000879●●●●●●
216. 39928052 c.55_56insGGC p.Thr19delinsArgPro inframe 0.00000876●●●●●●
217. 39913999 c.1811C>A p.A604D missense 0.00000868●●●●●●
218. 39925351 c.577A>G p.M193V missense 0.00000868●●●●●●
219. 39925356 c.572G>T p.R191L missense 0.00000866●●●●●●
220. 39925357 c.571C>T p.R191C missense 0.00000865●●●●●●
221. 39925360 c.568G>C p.V190L missense 0.00000863●●●●●●
222. 39925380 c.548C>T p.P183L missense 0.00000863●●●●●●
223. 39913906 c.1904A>G p.H635R missense 0.00000862●●●●●●
224. 39913909 c.1901T>C p.L634P missense 0.00000862●●●●●●
225. 39913942 c.1868C>G p.A623G missense 0.00000862●●●●●●
226. 39912420 c.2086+7G>A splice site 0.00000862●●●●●●
227. 39925366 c.562G>A p.A188T missense 0.00000861●●●●●●
228. 39914766 c.1658G>A p.G553D missense 0.00000859●●●●●●
229. 39912429 c.2084A>G p.D695G missense 0.00000857●●●●●●
230. 39913878 c.1924+8G>T splice site 0.00000856●●●●●●
231. 39912439 c.2074C>T p.P692S missense 0.00000853●●●●●●
232. 39912442 c.2071G>A p.E691K missense 0.00000851●●●●●●
233. 39912040 c.2194G>A p.G732S missense 0.00000849●●●●●●
234. 39928036 c.71C>T p.S24L missense 0.00000849●●●●●●
235. 39925465 c.469-6C>T splice site 0.00000849●●●●●●
236. 39925457 c.471G>C splice site 0.00000848●●●●●●
237. 39925443 c.485C>T p.A162V missense 0.00000845●●●●●●
238. 39925414 c.514A>G p.K172E missense 0.00000845●●●●●●
239. 39925435 c.493A>G p.I165V missense 0.00000845●●●●●●
240. 39925441 c.487G>A p.A163T missense 0.00000845●●●●●●
241. 39912045 c.2189G>A p.S730N missense 0.00000844●●●●●●
242. 39923818 c.722C>T p.S241L missense 0.00000841●●●●●●
243. 39912139 c.2095G>T p.A699S missense 0.00000838●●●●●●
244. 39914736 c.1688G>A p.C563Y missense 0.00000837●●●●●●
245. 39912077 c.2157_2162dupCATGGA p.Met720_Asp721dup inframe 0.00000837●●●●●●
246. 39912076 c.2158A>G p.M720V missense 0.00000836●●●●●●
247. 39912102 c.2132T>C p.L711P missense 0.00000835●●●●●●
248. 39928022 c.85G>A p.G29S missense 0.00000832●●●●●●
249. 39928019 c.88G>A p.A30T missense 0.00000831●●●●●●
250. 39919237 c.1495A>C p.K499Q missense 0.00000830●●●●●●
251. 39914643 c.1773+8T>C splice site 0.00000829●●●●●●
252. 39914719 c.1705A>T p.I569F missense 0.00000829●●●●●●
253. 39923801 c.739A>G p.I247V missense 0.00000829●●●●●●
254. 39923794 c.746C>T p.T249M missense 0.00000828●●●●●●
255. 39914710 c.1714C>T p.R572W missense 0.00000828●●●●●●
256. 39914680 c.1744C>T p.R582W missense 0.00000827●●●●●●
257. 39914664 c.1760C>T p.P587L missense 0.00000827●●●●●●
258. 39919254 c.1478A>G p.N493S missense 0.00000827●●●●●●
259. 39919558 c.1174G>A p.V392M missense 0.00000827●●●●●●
260. 39928004 c.103C>A p.P35T missense 0.00000827●●●●●●
261. 39928007 c.100G>A p.V34M missense 0.00000827●●●●●●
262. 39923638 c.902A>G p.E301G missense 0.00000826●●●●●●
263. 39923635 c.905G>A p.S302N missense 0.00000826●●●●●●
264. 39923639 c.901G>C p.E301Q missense 0.00000826●●●●●●
265. 39923758 c.782A>G p.K261R missense 0.00000826●●●●●●
266. 39927993 c.114C>A p.S38R missense 0.00000826●●●●●●
267. 39927991 c.116_118delGCA p.Ser39del inframe 0.00000826●●●●●●
268. 39923625 c.909+6C>A splice site 0.00000826●●●●●●
269. 39927955 c.152G>A p.R51H missense 0.00000825●●●●●●
270. 39923746 c.794G>A p.R265H missense 0.00000825●●●●●●
271. 39921003 c.1120T>G p.W374G missense 0.00000825●●●●●●
272. 39927959 c.148G>A p.G50R missense 0.00000825●●●●●●
273. 39923698 c.842A>G p.N281S missense 0.00000825●●●●●●
274. 39919267 c.1465C>T p.L489F missense 0.00000825●●●●●●
275. 39919276 c.1456G>A p.V486M missense 0.00000825●●●●●●
276. 39921010 c.1113C>A p.N371K missense 0.00000825●●●●●●
277. 39921015 c.1108C>T p.Q370X nonsense 0.00000825●●●●●●
278. 39921023 c.1100G>A p.R367H missense 0.00000825●●●●●●
279. 39921027 c.1096C>A p.P366T missense 0.00000825●●●●●●
280. 39921050 c.1073G>A p.G358D missense 0.00000825●●●●●●
281. 39923710 c.830T>G p.L277R missense 0.00000825●●●●●●
282. 39923710 c.830T>C p.L277P missense 0.00000825●●●●●●
283. 39923747 c.793C>T p.R265C missense 0.00000825●●●●●●
284. 39927941 c.166A>G p.K56E missense 0.00000825●●●●●●
285. 39927946 c.161C>A p.T54K missense 0.00000825●●●●●●
286. 39927947 c.160A>G p.T54A missense 0.00000825●●●●●●
287. 39927956 c.151C>T p.R51C missense 0.00000825●●●●●●
288. 39927961 c.146G>A p.C49Y missense 0.00000825●●●●●●
289. 39927971 c.136G>A p.D46N missense 0.00000825●●●●●●
290. 39927982 c.125T>A p.I42N missense 0.00000825●●●●●●
291. 39921326 c.910-7C>T splice site 0.00000825●●●●●●
292. 39913717 c.1996G>T p.V666L missense 0.00000824●●●●●●
293. 39919338 c.1394G>A p.R465H missense 0.00000824●●●●●●
294. 39921231 c.998G>A p.R333H missense 0.00000824●●●●●●
295. 39919389 c.1343A>G p.K448R missense 0.00000824●●●●●●
296. 39921302 c.927T>A p.N309K missense 0.00000824●●●●●●
297. 39913681 c.2032G>A p.A678T missense 0.00000824●●●●●●
298. 39913717 c.1996G>A p.V666M missense 0.00000824●●●●●●
299. 39913723 c.1990G>A p.V664M missense 0.00000824●●●●●●
300. 39913726 c.1987C>T p.R663C missense 0.00000824●●●●●●
301. 39913737 c.1976A>G p.D659G missense 0.00000824●●●●●●
302. 39919293 c.1439A>G p.Y480C missense 0.00000824●●●●●●
303. 39919348 c.1384C>T p.L462F missense 0.00000824●●●●●●
304. 39919372 c.1360C>T p.P454S missense 0.00000824●●●●●●
305. 39919384 c.1348G>A p.D450N missense 0.00000824●●●●●●
306. 39919413 c.1319A>G p.H440R missense 0.00000824●●●●●●
307. 39919424 c.1308G>T p.E436D missense 0.00000824●●●●●●
308. 39919443 c.1289C>A p.T430K missense 0.00000824●●●●●●
309. 39919470 c.1262A>G p.N421S missense 0.00000824●●●●●●
310. 39919474 c.1258T>C p.C420R missense 0.00000824●●●●●●
311. 39919476 c.1256C>T p.T419I missense 0.00000824●●●●●●
312. 39921181 c.1048G>C p.E350Q missense 0.00000824●●●●●●
313. 39921183 c.1046T>C p.V349A missense 0.00000824●●●●●●
314. 39921193 c.1036C>T p.P346S missense 0.00000824●●●●●●
315. 39921232 c.997C>T p.R333C missense 0.00000824●●●●●●
316. 39921240 c.989C>A p.T330N missense 0.00000824●●●●●●
317. 39921256 c.973G>A p.E325K missense 0.00000824●●●●●●
318. 39921265 c.964T>C p.Y322H missense 0.00000824●●●●●●
319. 39921277 c.952A>G p.I318V missense 0.00000824●●●●●●
320. 39921278 c.951G>C p.Q317H missense 0.00000824●●●●●●
321. 39921279 c.950A>T p.Q317L missense 0.00000824●●●●●●
322. 39921283 c.946G>A p.V316M missense 0.00000824●●●●●●
323. 39921315 c.914T>C p.I305T missense 0.00000824●●●●●●
324. 39919384 c.1348_1350delGAC p.Asp450del inframe 0.00000824●●●●●●
325. 39921174 c.1054+1G>A essential splice site 0.00000824●●●●●●
326. 39921313 c.916delA p.Ile306SerfsTer56 frameshift 0.00000824●●●●●●
327. 39913660 c.2046+7A>T splice site 0.00000824●●●●●●
328. 39921170 c.1054+5G>C splice site 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.