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

* 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.