MIB1 variants in ExAC

MIB1 gene summary
MIB1 variants in

The table below lists the MIB1 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. 19427096 c.2393+10A>G splice site 0.08573973●●●●●●
2. 19423086 c.1963-6G>A splice site 0.00121538●●●●●●
3. 19371521 c.1092+3A>G splice site 0.00054187●●●●●●
4. 19429174 c.2411G>A p.R804Q missense 0.00035733●●●●●●
5. 19437212 c.2779+8G>A splice site 0.00026063●●●●●●
6. 19444613 c.3007A>G p.I1003V missense 0.00024716●●●●●●
7. 19438554 c.2827G>T p.V943F missense 0.00014018●●●●●●
8. 19371525 c.1092+7A>G splice site 0.00013371●●●●●●
9. 19399549 c.1771A>T p.I591F missense 0.00012361●●●●●●
10. 19383931 c.1435A>G p.I479V missense 0.00011646●●●●●●
11. 19378063 c.1111C>T p.R371X nonsense 0.00010732●●●●●●
12. 19321581 c.37G>C p.G13R missense 0.00010459●●●●●●
13. 19378178 c.1226A>G p.N409S missense 0.00009910●●●●●●
14. 19321773 c.229G>A p.G77S missense 0.00006886●●●●●●
15. 19423155 c.2026C>T p.R676X nonsense 0.00006839●●●●●●
16. 19321599 c.55G>A p.V19M missense 0.00006758●●●●●●
17. 19437141 c.2716C>T p.R906X nonsense 0.00006600●●●●●●
18. 19395673 c.1576C>T p.Arg526Ter nonsense 0.00006593●●●●●●
19. 19345769 c.266G>T p.R89L missense 0.00006590●●●●●●
20. 19348601 c.419G>A p.R140H missense 0.00006283●●●●●●
21. 19429168 c.2405G>A p.G802D missense 0.00005842●●●●●●
22. 19437171 c.2746G>A p.G916R missense 0.00005775●●●●●●
23. 19345768 c.265C>G p.R89G missense 0.00005767●●●●●●
24. 19348624 c.442G>T p.A148S missense 0.00005487●●●●●●
25. 19348658 c.476G>A p.R159Q missense 0.00005331●●●●●●
26. 19321772 c.228C>G splice site 0.00005175●●●●●●
27. 19379859 c.1295A>G p.N432S missense 0.00004971●●●●●●
28. 19371465 c.1039C>T p.R347X nonsense 0.00004947●●●●●●
29. 19395685 c.1588C>T p.R530X nonsense 0.00004944●●●●●●
30. 19371378 c.952C>T p.R318X nonsense 0.00004132●●●●●●
31. 19371415 c.989C>T p.T330I missense 0.00004122●●●●●●
32. 19345879 c.376C>T p.R126X nonsense 0.00004119●●●●●●
33. 19433164 c.2650_2651delAT p.Met884ValfsTer4 frameshift 0.00004119●●●●●●
34. 19444569 c.2963G>A p.R988H missense 0.00004118●●●●●●
35. 19321548 c.4A>G p.S2G missense 0.00003799●●●●●●
36. 19424214 c.2211G>A splice site 0.00003517●●●●●●
37. 19426998 c.2305C>T p.R769X nonsense 0.00003296●●●●●●
38. 19395649 c.1552C>T p.R518X nonsense 0.00003296●●●●●●
39. 19345792 c.289C>T p.R97X nonsense 0.00003295●●●●●●
40. 19348657 c.475C>T p.R159X nonsense 0.00003267●●●●●●
41. 19321555 c.11C>G p.S4C missense 0.00002653●●●●●●
42. 19423096 c.1967A>C p.N656T missense 0.00002565●●●●●●
43. 19423096 c.1967A>G p.N656S missense 0.00002565●●●●●●
44. 19379919 c.1355A>C p.K452T missense 0.00002494●●●●●●
45. 19379886 c.1322A>G p.N441S missense 0.00002487●●●●●●
46. 19371367 c.941C>T p.A314V missense 0.00002485●●●●●●
47. 19378044 c.1093-1G>A essential splice site 0.00002480●●●●●●
48. 19378188 c.1236T>G splice site 0.00002479●●●●●●
49. 19424047 c.2050-6delT splice site 0.00002474●●●●●●
50. 19418424 c.1928A>G p.N643S missense 0.00002474●●●●●●
51. 19424052 c.2050-1G>A essential splice site 0.00002473●●●●●●
52. 19433187 c.2665+8G>C splice site 0.00002473●●●●●●
53. 19438558 c.2831A>G p.N944S missense 0.00002473●●●●●●
54. 19399549 c.1771A>G p.I591V missense 0.00002472●●●●●●
55. 19444607 c.3001C>T p.Arg1001Ter nonsense 0.00002471●●●●●●
56. 19321560 c.16A>C p.N6H missense 0.00002153●●●●●●
57. 19321654 c.110G>A p.G37D missense 0.00002058●●●●●●
58. 19321692 c.148G>A p.V50I missense 0.00002047●●●●●●
59. 19348703 c.521G>A p.R174H missense 0.00001881●●●●●●
60. 19321777 c.229+4A>T splice site 0.00001802●●●●●●
61. 19423085 c.1963-7C>T splice site 0.00001744●●●●●●
62. 19321776 c.229+3A>G splice site 0.00001739●●●●●●
63. 19423091 c.1963-1G>C essential splice site 0.00001721●●●●●●
64. 19424207 c.2204A>G p.K735R missense 0.00001705●●●●●●
65. 19399608 c.1829+1G>T essential splice site 0.00001668●●●●●●
66. 19438503 c.2780-4A>G splice site 0.00001667●●●●●●
67. 19371354 c.928G>A p.V310I missense 0.00001666●●●●●●
68. 19379835 c.1271A>G p.E424G missense 0.00001658●●●●●●
69. 19371500 c.1074G>A p.W358X nonsense 0.00001653●●●●●●
70. 19371378 c.952C>G p.R318G missense 0.00001653●●●●●●
71. 19437126 c.2701C>T p.R901X nonsense 0.00001652●●●●●●
72. 19353696 c.636+7A>C splice site 0.00001652●●●●●●
73. 19358135 c.703+5G>A splice site 0.00001652●●●●●●
74. 19371379 c.953G>A p.R318Q missense 0.00001652●●●●●●
75. 19438543 c.2816A>T p.D939V missense 0.00001650●●●●●●
76. 19395751 c.1654delT p.F552Lfs*28 frameshift 0.00001650●●●●●●
77. 19358119 c.692G>T p.C231F missense 0.00001650●●●●●●
78. 19378128 c.1176C>A p.Y392X nonsense 0.00001650●●●●●●
79. 19371397 c.971A>G p.Q324R missense 0.00001650●●●●●●
80. 19429195 c.2432A>G p.N811S missense 0.00001650●●●●●●
81. 19418429 c.1933G>A p.V645I missense 0.00001650●●●●●●
82. 19353639 c.586C>G p.L196V missense 0.00001649●●●●●●
83. 19358076 c.649T>C p.C217R missense 0.00001649●●●●●●
84. 19371466 c.1040G>A p.R347Q missense 0.00001649●●●●●●
85. 19371402 c.976G>A p.A326T missense 0.00001649●●●●●●
86. 19358085 c.658G>C p.D220H missense 0.00001649●●●●●●
87. 19418411 c.1915G>A p.A639T missense 0.00001649●●●●●●
88. 19426939 c.2246A>G p.K749R missense 0.00001648●●●●●●
89. 19424062 c.2059C>T p.R687C missense 0.00001648●●●●●●
90. 19424075 c.2072A>C p.K691T missense 0.00001648●●●●●●
91. 19426981 c.2288G>A p.G763D missense 0.00001648●●●●●●
92. 19395657 c.1560T>G p.S520R missense 0.00001648●●●●●●
93. 19359613 c.875A>G p.H292R missense 0.00001648●●●●●●
94. 19424054 c.2051T>G p.L684R missense 0.00001648●●●●●●
95. 19429221 c.2458A>G p.M820V missense 0.00001648●●●●●●
96. 19399514 c.1736T>C p.L579P missense 0.00001648●●●●●●
97. 19345769 c.266G>A p.R89H missense 0.00001648●●●●●●
98. 19359646 c.908G>C p.R303T missense 0.00001648●●●●●●
99. 19345892 c.389C>T p.P130L missense 0.00001647●●●●●●
100. 19345816 c.313A>G p.N105D missense 0.00001647●●●●●●
101. 19348635 c.453C>G p.I151M missense 0.00001451●●●●●●
102. 19321763 c.219delC p.Ser73ArgfsTer48 frameshift 0.00001451●●●●●●
103. 19321573 c.29T>C p.M10T missense 0.00001447●●●●●●
104. 19321590 c.46G>A p.A16T missense 0.00001202●●●●●●
105. 19321590 c.46G>T p.A16S missense 0.00001202●●●●●●
106. 19321593 c.49C>T p.R17W missense 0.00001177●●●●●●
107. 19321731 c.187_188insC p.G64Rfs*15 frameshift 0.00001148●●●●●●
108. 19321611 c.67G>T p.D23Y missense 0.00001076●●●●●●
109. 19321632 c.88G>A p.D30N missense 0.00001048●●●●●●
110. 19321701 c.157G>A p.D53N missense 0.00001035●●●●●●
111. 19321671 c.127G>T p.E43X nonsense 0.00001022●●●●●●
112. 19348676 c.494G>T p.W165L missense 0.00000972●●●●●●
113. 19348677 c.495G>T p.W165C missense 0.00000969●●●●●●
114. 19348712 c.530A>G p.K177R missense 0.00000950●●●●●●
115. 19348693 c.511G>T p.G171X nonsense 0.00000941●●●●●●
116. 19348702 c.520C>T p.R174C missense 0.00000939●●●●●●
117. 19423186 c.2049+8A>G splice site 0.00000919●●●●●●
118. 19383981 c.1479+6T>C splice site 0.00000883●●●●●●
119. 19383980 c.1479+5G>A splice site 0.00000879●●●●●●
120. 19383862 c.1372-6A>G splice site 0.00000877●●●●●●
121. 19424213 c.2210C>A p.T737K missense 0.00000873●●●●●●
122. 19423169 c.2040G>C p.Q680H missense 0.00000872●●●●●●
123. 19383977 c.1479+2T>C essential splice site 0.00000871●●●●●●
124. 19383977 c.1479+2T>G essential splice site 0.00000871●●●●●●
125. 19383864 c.1372-4G>T splice site 0.00000871●●●●●●
126. 19423168 c.2039delA p.Gln680ArgfsTer28 frameshift 0.00000868●●●●●●
127. 19383866 c.1372-2A>G essential splice site 0.00000865●●●●●●
128. 19423165 c.2036C>T p.T679I missense 0.00000864●●●●●●
129. 19423091 c.1963-1G>A essential splice site 0.00000860●●●●●●
130. 19429149 c.2394-8T>C splice site 0.00000859●●●●●●
131. 19371328 c.909-7C>G splice site 0.00000859●●●●●●
132. 19371328 c.909-7C>T splice site 0.00000859●●●●●●
133. 19427086 c.2393G>T p.S798I missense 0.00000857●●●●●●
134. 19371329 c.909-6T>C splice site 0.00000857●●●●●●
135. 19423095 c.1966A>C p.N656H missense 0.00000856●●●●●●
136. 19423099 c.1970C>T p.A657V missense 0.00000852●●●●●●
137. 19371334 c.909-1G>C essential splice site 0.00000851●●●●●●
138. 19423107 c.1978G>A p.D660N missense 0.00000847●●●●●●
139. 19399453 c.1678-3A>C splice site 0.00000845●●●●●●
140. 19423142 c.2013C>G p.H671Q missense 0.00000844●●●●●●
141. 19423128 c.1999C>G p.Q667E missense 0.00000842●●●●●●
142. 19429161 c.2398C>G p.Q800E missense 0.00000842●●●●●●
143. 19383964 c.1468G>A p.V490I missense 0.00000842●●●●●●
144. 19395570 c.1480-7_1480-4delTGAT splice site 0.00000841●●●●●●
145. 19379939 c.1371+4A>G splice site 0.00000839●●●●●●
146. 19379940 c.1371+5G>A splice site 0.00000839●●●●●●
147. 19379938 c.1371+3G>C splice site 0.00000838●●●●●●
148. 19418330 c.1834A>G p.M612V missense 0.00000837●●●●●●
149. 19383896 c.1400_1401insTA p.Met468IlefsTer14 frameshift 0.00000837●●●●●●
150. 19437093 c.2668_2669delTG p.Ala891Ter frameshift 0.00000837●●●●●●
151. 19379937 c.1371+2T>A essential splice site 0.00000837●●●●●●
152. 19371526 c.1092+8T>C splice site 0.00000836●●●●●●
153. 19371524 c.1092+6T>C splice site 0.00000835●●●●●●
154. 19424196 c.2193G>A p.W731X nonsense 0.00000835●●●●●●
155. 19437206 c.2779+2T>C essential splice site 0.00000834●●●●●●
156. 19399607 c.1829G>T p.S610I missense 0.00000834●●●●●●
157. 19399608 c.1829+1G>C essential splice site 0.00000834●●●●●●
158. 19371519 c.1092+1G>A essential splice site 0.00000833●●●●●●
159. 19379798 c.1238-4A>T splice site 0.00000833●●●●●●
160. 19427075 c.2382delG p.Glu795LysfsTer14 frameshift 0.00000833●●●●●●
161. 19379799 c.1238-3C>G splice site 0.00000833●●●●●●
162. 19437205 c.2779+1G>A essential splice site 0.00000833●●●●●●
163. 19371519 c.1092+1G>C essential splice site 0.00000833●●●●●●
164. 19418336 c.1840G>A p.V614I missense 0.00000832●●●●●●
165. 19418337 c.1841delT p.L615Yfs*31 frameshift 0.00000832●●●●●●
166. 19429173 c.2410C>T p.R804W missense 0.00000832●●●●●●
167. 19379810 c.1246T>G p.S416A missense 0.00000831●●●●●●
168. 19379811 c.1247C>T p.S416L missense 0.00000831●●●●●●
169. 19379811 c.1247C>G p.S416X nonsense 0.00000831●●●●●●
170. 19426902 c.2212-3C>A splice site 0.00000830●●●●●●
171. 19429329 c.2566C>T p.Q856X nonsense 0.00000830●●●●●●
172. 19437199 c.2774A>C p.D925A missense 0.00000830●●●●●●
173. 19418340 c.1844T>G p.L615X nonsense 0.00000830●●●●●●
174. 19395777 c.1677+3A>G splice site 0.00000830●●●●●●
175. 19426902 c.2212-3C>T splice site 0.00000830●●●●●●
176. 19437199 c.2774A>G p.D925G missense 0.00000830●●●●●●
177. 19399472 c.1694C>G p.T565S missense 0.00000829●●●●●●
178. 19429326 c.2563G>T p.E855X nonsense 0.00000829●●●●●●
179. 19424188 c.2185G>A p.A729T missense 0.00000829●●●●●●
180. 19379842 c.1278A>C p.Q426H missense 0.00000829●●●●●●
181. 19371510 c.1084A>G p.M362V missense 0.00000829●●●●●●
182. 19418459 c.1962+1G>A essential splice site 0.00000829●●●●●●
183. 19438510 c.2783G>T p.S928I missense 0.00000829●●●●●●
184. 19429178 c.2415T>A p.S805R missense 0.00000829●●●●●●
185. 19429179 c.2416C>T p.P806S missense 0.00000828●●●●●●
186. 19371508 c.1082C>T p.A361V missense 0.00000828●●●●●●
187. 19438513 c.2786G>A p.G929E missense 0.00000828●●●●●●
188. 19399477 c.1699C>T p.L567F missense 0.00000828●●●●●●
189. 19437111 c.2686A>T p.K896X nonsense 0.00000828●●●●●●
190. 19379854 c.1290delC p.Leu431SerfsTer5 frameshift 0.00000828●●●●●●
191. 19418348 c.1852A>G p.K618E missense 0.00000828●●●●●●
192. 19378192 c.1237+3A>G splice site 0.00000827●●●●●●
193. 19378195 c.1237+6T>C splice site 0.00000827●●●●●●
194. 19438518 c.2791A>T p.I931F missense 0.00000827●●●●●●
195. 19371500 c.1074G>C p.W358C missense 0.00000827●●●●●●
196. 19378044 c.1093-1G>C essential splice site 0.00000827●●●●●●
197. 19418350 c.1854A>T p.K618N missense 0.00000827●●●●●●
198. 19371504 c.1078G>A p.E360K missense 0.00000827●●●●●●
199. 19427055 c.2362G>T p.A788S missense 0.00000826●●●●●●
200. 19358135 c.703+5G>T splice site 0.00000826●●●●●●
201. 19418450 c.1954G>A p.V652I missense 0.00000826●●●●●●
202. 19424177 c.2174G>C p.G725A missense 0.00000826●●●●●●
203. 19378180 c.1228_1229insC p.Ser411IlefsTer3 frameshift 0.00000826●●●●●●
204. 19418366 c.1870A>G p.I624V missense 0.00000826●●●●●●
205. 19429190 c.2427T>G p.I809M missense 0.00000826●●●●●●
206. 19358129 c.702A>G splice site 0.00000826●●●●●●
207. 19378187 c.1235G>A p.G412D missense 0.00000826●●●●●●
208. 19378061 c.1109G>A p.G370D missense 0.00000826●●●●●●
209. 19378049 c.1097T>C p.L366S missense 0.00000826●●●●●●
210. 19353693 c.636+4A>G splice site 0.00000826●●●●●●
211. 19418448 c.1952T>A p.L651X nonsense 0.00000826●●●●●●
212. 19378177 c.1225A>G p.N409D missense 0.00000826●●●●●●
213. 19353588 c.535A>G p.T179A missense 0.00000826●●●●●●
214. 19429315 c.2552T>A p.L851H missense 0.00000826●●●●●●
215. 19437139 c.2714delA p.Glu905AspfsTer63 frameshift 0.00000825●●●●●●
216. 19378066 c.1114G>A p.V372I missense 0.00000825●●●●●●
217. 19437156 c.2731A>T p.I911F missense 0.00000825●●●●●●
218. 19358101 c.674C>G p.S225C missense 0.00000825●●●●●●
219. 19359654 c.908+8A>T splice site 0.00000825●●●●●●
220. 19424165 c.2162delT p.Met721SerfsTer18 frameshift 0.00000825●●●●●●
221. 19353604 c.551G>A p.W184X nonsense 0.00000825●●●●●●
222. 19418380 c.1884_1885insA p.Asp630ArgfsTer2 frameshift 0.00000825●●●●●●
223. 19418421 c.1925A>G p.N642S missense 0.00000825●●●●●●
224. 19371396 c.970C>T p.Q324X nonsense 0.00000825●●●●●●
225. 19395605 c.1508A>G p.H503R missense 0.00000825●●●●●●
226. 19437172 c.2747G>A p.G916E missense 0.00000825●●●●●●
227. 19378064 c.1112G>A p.R371Q missense 0.00000825●●●●●●
228. 19353615 c.562_563insG p.Ser188ArgfsTer4 frameshift 0.00000825●●●●●●
229. 19427041 c.2348C>T p.P783L missense 0.00000825●●●●●●
230. 19353605 c.552G>A p.W184X nonsense 0.00000825●●●●●●
231. 19399501 c.1723C>T p.R575C missense 0.00000825●●●●●●
232. 19438545 c.2818delA p.Asn940IlefsTer28 frameshift 0.00000825●●●●●●
233. 19345734 c.231_232insA p.Ile78AsnfsTer4 frameshift 0.00000825●●●●●●
234. 19378132 c.1180C>A p.P394T missense 0.00000825●●●●●●
235. 19378130 c.1178A>G p.N393S missense 0.00000825●●●●●●
236. 19418407 c.1911T>A p.H637Q missense 0.00000825●●●●●●
237. 19395743 c.1646T>G p.L549X nonsense 0.00000825●●●●●●
238. 19353690 c.636+1G>A essential splice site 0.00000825●●●●●●
239. 19427044 c.2351A>G p.N784S missense 0.00000825●●●●●●
240. 19353667 c.614A>G p.Y205C missense 0.00000825●●●●●●
241. 19438542 c.2815G>A p.D939N missense 0.00000825●●●●●●
242. 19437142 c.2717G>A p.R906Q missense 0.00000825●●●●●●
243. 19395605 c.1508A>C p.H503P missense 0.00000825●●●●●●
244. 19424165 c.2162T>C p.M721T missense 0.00000825●●●●●●
245. 19358062 c.637-2A>G essential splice site 0.00000824●●●●●●
246. 19358070 c.643C>G p.L215V missense 0.00000824●●●●●●
247. 19399540 c.1762G>A p.D588N missense 0.00000824●●●●●●
248. 19427017 c.2324C>T p.S775L missense 0.00000824●●●●●●
249. 19359598 c.860G>A p.G287D missense 0.00000824●●●●●●
250. 19358067 c.640G>A p.D214N missense 0.00000824●●●●●●
251. 19345871 c.368G>A p.R123H missense 0.00000824●●●●●●
252. 19444613 c.3007A>C p.I1003L missense 0.00000824●●●●●●
253. 19444512 c.2906G>A p.R969H missense 0.00000824●●●●●●
254. 19424092 c.2089A>T p.K697X nonsense 0.00000824●●●●●●
255. 19433166 c.2652G>A p.M884I missense 0.00000824●●●●●●
256. 19371460 c.1034T>C p.L345P missense 0.00000824●●●●●●
257. 19345780 c.277A>G p.I93V missense 0.00000824●●●●●●
258. 19359627 c.889C>G p.Q297E missense 0.00000824●●●●●●
259. 19359624 c.886delG p.Val296TyrfsTer71 frameshift 0.00000824●●●●●●
260. 19429273 c.2510T>C p.I837T missense 0.00000824●●●●●●
261. 19359545 c.807delA p.Gly270AspfsTer10 frameshift 0.00000824●●●●●●
262. 19424113 c.2110C>T p.H704Y missense 0.00000824●●●●●●
263. 19345906 c.401+2T>C essential splice site 0.00000824●●●●●●
264. 19345806 c.303_304delAG p.Glu102ValfsTer5 frameshift 0.00000824●●●●●●
265. 19359531 c.793C>T p.Q265X nonsense 0.00000824●●●●●●
266. 19444568 c.2962C>T p.R988C missense 0.00000824●●●●●●
267. 19353627 c.574G>A p.A192T missense 0.00000824●●●●●●
268. 19433114 c.2600_2601insTACC p.Val868ThrfsTer5 frameshift 0.00000824●●●●●●
269. 19444577 c.2971G>T p.E991X nonsense 0.00000824●●●●●●
270. 19345873 c.370T>C p.F124L missense 0.00000824●●●●●●
271. 19433185 c.2665+6T>C splice site 0.00000824●●●●●●
272. 19395643 c.1546delC p.Leu516TyrfsTer8 frameshift 0.00000824●●●●●●
273. 19429285 c.2522C>T p.S841F missense 0.00000824●●●●●●
274. 19359443 c.705T>C splice site 0.00000824●●●●●●
275. 19358063 c.637-1G>T essential splice site 0.00000824●●●●●●
276. 19399543 c.1765G>C p.V589L missense 0.00000824●●●●●●
277. 19358071 c.644T>G p.L215R missense 0.00000824●●●●●●
278. 19345876 c.373T>C p.Y125H missense 0.00000824●●●●●●
279. 19426956 c.2263A>G p.I755V missense 0.00000824●●●●●●
280. 19444526 c.2920A>G p.I974V missense 0.00000824●●●●●●
281. 19424103 c.2100T>G p.D700E missense 0.00000824●●●●●●
282. 19424081 c.2078A>C p.D693A missense 0.00000824●●●●●●
283. 19371463 c.1037A>C p.E346A missense 0.00000824●●●●●●
284. 19345811 c.308G>T p.C103F missense 0.00000824●●●●●●
285. 19395628 c.1531G>A p.A511T missense 0.00000824●●●●●●
286. 19359641 c.903_904insA p.Asn302LysfsTer2 frameshift 0.00000824●●●●●●
287. 19429275 c.2512G>T p.A838S missense 0.00000824●●●●●●
288. 19359480 c.742A>G p.I248V missense 0.00000824●●●●●●
289. 19345817 c.314_315delAT p.Asn105IlefsTer2 frameshift 0.00000824●●●●●●
290. 19395695 c.1598C>T p.P533L missense 0.00000824●●●●●●
291. 19359579 c.841A>G p.T281A missense 0.00000824●●●●●●
292. 19433090 c.2587-11T>G splice site 0.00000824●●●●●●
293. 19444582 c.2976T>A p.C992X nonsense 0.00000824●●●●●●
294. 19395741 c.1644delT p.Leu549TyrfsTer23 frameshift 0.00000824●●●●●●
295. 19433138 c.2624C>T p.A875V missense 0.00000824●●●●●●
296. 19371433 c.1007G>T p.G336V missense 0.00000824●●●●●●
297. 19359572 c.834_835delTT p.Leu279AsnfsTer10 frameshift 0.00000824●●●●●●
298. 19359521 c.783_784delAC p.Gln262ValfsTer11 frameshift 0.00000824●●●●●●
299. 19371433 c.1007G>A p.G336D missense 0.00000824●●●●●●
300. 19359636 c.898A>G p.S300G missense 0.00000824●●●●●●
301. 19359618 c.880A>G p.I294V missense 0.00000824●●●●●●
302. 19426960 c.2267C>A p.A756D missense 0.00000824●●●●●●
303. 19395637 c.1540G>T p.E514X nonsense 0.00000824●●●●●●
304. 19424087 c.2084A>G p.Q695R missense 0.00000824●●●●●●
305. 19438557 c.2830A>G p.N944D missense 0.00000824●●●●●●
306. 19424052 c.2050-1G>C essential splice site 0.00000824●●●●●●
307. 19444539 c.2933G>T p.G978V missense 0.00000824●●●●●●
308. 19424107 c.2104C>G p.P702A missense 0.00000824●●●●●●
309. 19433095 c.2587-6C>T splice site 0.00000824●●●●●●
310. 19371437 c.1011delT p.Val339TyrfsTer28 frameshift 0.00000824●●●●●●
311. 19429285 c.2522C>G p.S841C missense 0.00000824●●●●●●
312. 19427011 c.2318G>C p.G773A missense 0.00000824●●●●●●
313. 19359596 c.858T>A p.C286X nonsense 0.00000824●●●●●●
314. 19353619 c.566C>A p.P189Q missense 0.00000824●●●●●●
315. 19395611 c.1514C>G p.A505G missense 0.00000824●●●●●●
316. 19444591 c.2985T>A p.C995X nonsense 0.00000824●●●●●●
317. 19426932 c.2239G>T p.A747S missense 0.00000824●●●●●●
318. 19444574 c.2968A>T p.S990C missense 0.00000824●●●●●●
319. 19395641 c.1544T>C p.V515A missense 0.00000824●●●●●●
320. 19444511 c.2905C>T p.R969C missense 0.00000824●●●●●●
321. 19424072 c.2069C>T p.A690V missense 0.00000824●●●●●●
322. 19433164 c.2650A>C p.M884L missense 0.00000824●●●●●●
323. 19371437 c.1011T>A p.D337E missense 0.00000824●●●●●●
324. 19359624 c.886G>T p.V296L missense 0.00000824●●●●●●
325. 19359601 c.863delT p.Ile288MetfsTer8 frameshift 0.00000824●●●●●●
326. 19359541 c.803_804delAT p.His268ArgfsTer5 frameshift 0.00000824●●●●●●
327. 19345859 c.356_357insT p.Leu120PhefsTer14 frameshift 0.00000824●●●●●●
328. 19345784 c.281T>A p.I94N missense 0.00000824●●●●●●
329. 19444485 c.2881-2A>G essential splice site 0.00000824●●●●●●
330. 19345785 c.282_283delTG p.Ile94MetfsTer13 frameshift 0.00000824●●●●●●
331. 19426963 c.2270G>A p.C757Y missense 0.00000824●●●●●●
332. 19359507 c.769G>C p.D257H missense 0.00000824●●●●●●
333. 19424162 c.2159_2160delAT p.Met721AlafsTer44 frameshift 0.00000824●●●●●●
334. 19444547 c.2941A>C p.T981P missense 0.00000824●●●●●●
335. 19429300 c.2537_2538insT p.Val847CysfsTer8 frameshift 0.00000824●●●●●●
336. 19371468 c.1042A>G p.I348V missense 0.00000824●●●●●●
337. 19345870 c.367C>T p.R123C missense 0.00000824●●●●●●
338. 19433097 c.2587-4A>G 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.