NEBL variants in ExAC

NEBL gene summary
NEBL variants in

The table below lists the NEBL 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. 21141469 c.1008+5A>G splice site 0.97092899●●●●●●
2. 21120116 c.1671+9T>C splice site 0.38930519●●●●●●
3. 21134282 c.1132G>C p.D378H missense 0.06519464●●●●●●
4. 21139389 c.1051A>G p.M351V missense 0.06504179●●●●●●
5. 21112137 c.1962T>A p.N654K missense 0.06059353●●●●●●
6. 21177144 c.259-8dupT splice site 0.02581898●●●●●●
7. 21157621 c.656C>A p.A219D missense 0.01790895●●●●●●
8. 21104613 c.2182A>G p.T728A missense 0.01638166●●●●●●
9. 21104651 c.2149-5G>A splice site 0.00756280●●●●●●
10. 21177144 c.259-8delT splice site 0.00416788●●●●●●
11. 21178852 c.180G>C p.K60N missense 0.00385594●●●●●●
12. 21169720 c.480+3A>G splice site 0.00324702●●●●●●
13. 21106620 c.2057T>C p.V686A missense 0.00296858●●●●●●
14. 21178889 c.154-11C>A splice site 0.00286361●●●●●●
15. 21178841 c.191A>G p.K64R missense 0.00244152●●●●●●
16. 21097546 c.2654C>T p.S885F missense 0.00220672●●●●●●
17. 21157673 c.604G>A p.G202R missense 0.00212840●●●●●●
18. 21134303 c.1117-6T>G splice site 0.00190368●●●●●●
19. 21186124 c.11C>T p.P4L missense 0.00169092●●●●●●
20. 21115384 c.1861A>G p.I621V missense 0.00149313●●●●●●
21. 21141470 c.1008+4C>T splice site 0.00143633●●●●●●
22. 21120521 c.1450-9T>G splice site 0.00138572●●●●●●
23. 21177128 c.267C>G p.Y89X nonsense 0.00129722●●●●●●
24. 21101734 c.2482A>G p.I828V missense 0.00108902●●●●●●
25. 21139332 c.1108C>A p.Q370K missense 0.00103861●●●●●●
26. 21102862 c.2346+6G>A splice site 0.00048031●●●●●●
27. 21112145 c.1954A>C p.I652L missense 0.00045134●●●●●●
28. 21124545 c.1346A>G p.Y449C missense 0.00035439●●●●●●
29. 21141488 c.994G>A p.V332I missense 0.00033018●●●●●●
30. 21129704 c.1302C>G p.I434M missense 0.00032874●●●●●●
31. 21108354 c.2054C>T p.A685V missense 0.00030480●●●●●●
32. 21115407 c.1838G>A p.R613Q missense 0.00026403●●●●●●
33. 21098829 c.2519-2delA essential splice site 0.00025675●●●●●●
34. 21117460 c.1775C>A p.A592E missense 0.00025666●●●●●●
35. 21124452 c.1439T>C p.I480T missense 0.00025539●●●●●●
36. 21177028 c.367G>A p.E123K missense 0.00023122●●●●●●
37. 21185962 c.82-4A>G splice site 0.00023067●●●●●●
38. 21177021 c.369+5G>A splice site 0.00019840●●●●●●
39. 21106525 c.2148+4T>C splice site 0.00019793●●●●●●
40. 21106597 c.2080C>T p.R694W missense 0.00019779●●●●●●
41. 21178827 c.205A>G p.T69A missense 0.00018966●●●●●●
42. 21102870 c.2344A>G p.M782V missense 0.00018194●●●●●●
43. 21169830 c.373G>A p.A125T missense 0.00018151●●●●●●
44. 21112130 c.1962+7A>G splice site 0.00018146●●●●●●
45. 21169820 c.383A>T p.Q128L missense 0.00017312●●●●●●
46. 21185931 c.109_110delTT p.Leu37LysfsTer13 frameshift 0.00016473●●●●●●
47. 21158660 c.582+9T>C splice site 0.00015703●●●●●●
48. 21115368 c.1869+8C>G splice site 0.00015678●●●●●●
49. 21129785 c.1228-7C>T splice site 0.00015375●●●●●●
50. 21158690 c.561G>C p.Q187H missense 0.00014848●●●●●●
51. 21134273 c.1141_1143delAAG p.Lys381del inframe 0.00014088●●●●●●
52. 21158728 c.523G>A p.A175T missense 0.00014020●●●●●●
53. 21141574 c.908A>G p.E303G missense 0.00013831●●●●●●
54. 21120144 c.1652C>T p.T551I missense 0.00013232●●●●●●
55. 21108353 c.2055G>A splice site 0.00013180●●●●●●
56. 21101731 c.2485G>A p.V829M missense 0.00012375●●●●●●
57. 21108396 c.2012C>T p.P671L missense 0.00012356●●●●●●
58. 21134182 c.1227+5G>A splice site 0.00011759●●●●●●
59. 21134209 c.1205A>C p.Y402S missense 0.00011603●●●●●●
60. 21186112 c.23A>G p.D8G missense 0.00011067●●●●●●
61. 21076151 c.2848A>G p.M950V missense 0.00011043●●●●●●
62. 21148635 c.798+7T>A splice site 0.00010865●●●●●●
63. 21097550 c.2650C>T p.H884Y missense 0.00010746●●●●●●
64. 21097453 c.2747C>T p.P916L missense 0.00010725●●●●●●
65. 21177051 c.344_346delGAG p.G115_E116delinsE inframe 0.00010722●●●●●●
66. 21141578 c.904C>G p.R302G missense 0.00010420●●●●●●
67. 21104555 c.2240C>T p.S747L missense 0.00008259●●●●●●
68. 21101821 c.2395C>T p.P799S missense 0.00008256●●●●●●
69. 21115408 c.1837C>T p.R613X nonsense 0.00008250●●●●●●
70. 21101799 c.2417C>T p.T806I missense 0.00008249●●●●●●
71. 21177085 c.310C>T p.R104W missense 0.00008248●●●●●●
72. 21157595 c.682C>G p.Q228E missense 0.00008244●●●●●●
73. 21108375 c.2033G>A p.R678Q missense 0.00008238●●●●●●
74. 21186119 c.16T>C p.F6L missense 0.00008225●●●●●●
75. 21120129 c.1667G>C p.S556T missense 0.00007446●●●●●●
76. 21141466 c.1008+8C>G splice site 0.00007443●●●●●●
77. 21120199 c.1597G>A p.G533R missense 0.00007438●●●●●●
78. 21102891 c.2323delG p.Glu775LysfsTer9 frameshift 0.00007432●●●●●●
79. 21112229 c.1870G>C p.V624L missense 0.00006758●●●●●●
80. 21147244 c.828G>A p.M276I missense 0.00006615●●●●●●
81. 21101818 c.2398G>A p.V800I missense 0.00006603●●●●●●
82. 21178791 c.241G>A p.G81S missense 0.00006601●●●●●●
83. 21115411 c.1834G>A p.E612K missense 0.00006600●●●●●●
84. 21134183 c.1227+4C>T splice site 0.00005861●●●●●●
85. 21134189 c.1225G>A p.E409K missense 0.00005828●●●●●●
86. 21148700 c.740A>G p.N247S missense 0.00005818●●●●●●
87. 21102863 c.2346+5G>A splice site 0.00005795●●●●●●
88. 21178773 c.258+1G>A essential splice site 0.00005786●●●●●●
89. 21098789 c.2557G>A p.D853N missense 0.00005784●●●●●●
90. 21104589 c.2206G>T p.E736X nonsense 0.00005780●●●●●●
91. 21178818 c.214C>A p.P72T missense 0.00005772●●●●●●
92. 21106576 c.2101C>A p.P701T missense 0.00005768●●●●●●
93. 21169748 c.455T>C p.M152T missense 0.00005767●●●●●●
94. 21108430 c.1978C>A p.Q660K missense 0.00005767●●●●●●
95. 21129751 c.1255G>T p.E419X nonsense 0.00005512●●●●●●
96. 21186079 c.56G>A p.G19E missense 0.00005489●●●●●●
97. 21148641 c.798+1G>A essential splice site 0.00004996●●●●●●
98. 21147169 c.903C>T p.G301G splice site 0.00004969●●●●●●
99. 21147245 c.827T>C p.M276T missense 0.00004963●●●●●●
100. 21158736 c.515C>T p.T172M missense 0.00004949●●●●●●
101. 21177084 c.311G>A p.R104Q missense 0.00004949●●●●●●
102. 21177069 c.326T>C p.I109T missense 0.00004948●●●●●●
103. 21108345 c.2055+8G>A splice site 0.00004943●●●●●●
104. 21185886 c.153+1G>A essential splice site 0.00004942●●●●●●
105. 21117460 c.1775C>T p.A592V missense 0.00004278●●●●●●
106. 21112148 c.1951A>T p.N651Y missense 0.00004172●●●●●●
107. 21097594 c.2612-6A>G splice site 0.00004167●●●●●●
108. 21147168 c.903+1G>T essential splice site 0.00004143●●●●●●
109. 21101830 c.2386G>A p.G796S missense 0.00004131●●●●●●
110. 21148754 c.686T>C p.I229T missense 0.00004126●●●●●●
111. 21158716 c.535C>T p.R179X nonsense 0.00004123●●●●●●
112. 21157652 c.625G>A p.A209T missense 0.00004122●●●●●●
113. 21169820 c.383A>G p.Q128R missense 0.00004122●●●●●●
114. 21157607 c.670A>G p.K224E missense 0.00004121●●●●●●
115. 21108385 c.2023_2026delAGAG p.Arg675Ter frameshift 0.00004119●●●●●●
116. 21124525 c.1366A>G p.I456V missense 0.00004119●●●●●●
117. 21148740 c.700A>G p.K234E missense 0.00003771●●●●●●
118. 21147168 c.903+1G>A essential splice site 0.00003314●●●●●●
119. 21120169 c.1627C>G p.P543A missense 0.00003306●●●●●●
120. 21101709 c.2507G>A p.G836E missense 0.00003301●●●●●●
121. 21115381 c.1864A>C p.S622R missense 0.00003300●●●●●●
122. 21120416 c.1546G>A p.E516K missense 0.00003300●●●●●●
123. 21106585 c.2092A>G p.I698V missense 0.00003296●●●●●●
124. 21108411 c.1997C>T p.P666L missense 0.00003295●●●●●●
125. 21185924 c.116T>C p.M39T missense 0.00003295●●●●●●
126. 21108402 c.2006T>C p.M669T missense 0.00003295●●●●●●
127. 21186132 c.3G>T p.Met1? missense 0.00003104●●●●●●
128. 21141578 c.904C>T p.R302X nonsense 0.00002842●●●●●●
129. 21186082 c.53T>C p.I18T missense 0.00002777●●●●●●
130. 21129748 c.1258A>G p.I420V missense 0.00002716●●●●●●
131. 21076158 c.2841G>A p.M947I missense 0.00002699●●●●●●
132. 21148719 c.721G>A p.D241N missense 0.00002547●●●●●●
133. 21139437 c.1009-6A>G splice site 0.00002508●●●●●●
134. 21097594 c.2612-6A>C splice site 0.00002500●●●●●●
135. 21148645 c.795C>G p.S265R missense 0.00002494●●●●●●
136. 21098734 c.2611+1G>T essential splice site 0.00002485●●●●●●
137. 21097568 c.2632C>T p.R878X nonsense 0.00002485●●●●●●
138. 21098758 c.2588C>G p.S863C missense 0.00002482●●●●●●
139. 21098812 c.2534G>A p.R845H missense 0.00002481●●●●●●
140. 21120490 c.1472A>G p.E491G missense 0.00002481●●●●●●
141. 21097556 c.2644C>T p.R882X nonsense 0.00002481●●●●●●
142. 21098770 c.2576A>C p.D859A missense 0.00002480●●●●●●
143. 21177022 c.369+4G>A splice site 0.00002480●●●●●●
144. 21120184 c.1612G>T p.V538L missense 0.00002479●●●●●●
145. 21102888 c.2326G>A p.A776T missense 0.00002478●●●●●●
146. 21104554 c.2241G>A p.S747S splice site 0.00002478●●●●●●
147. 21102906 c.2308A>G p.M770V missense 0.00002476●●●●●●
148. 21074755 c.2966A>G p.D989G missense 0.00002475●●●●●●
149. 21101797 c.2419G>C p.E807Q missense 0.00002475●●●●●●
150. 21178814 c.218T>C p.M73T missense 0.00002474●●●●●●
151. 21169724 c.479A>G p.N160S missense 0.00002472●●●●●●
152. 21169791 c.412G>C p.D138H missense 0.00002472●●●●●●
153. 21169779 c.424A>G p.M142V missense 0.00002472●●●●●●
154. 21108346 c.2055+7C>T splice site 0.00002471●●●●●●
155. 21108400 c.2008A>G p.T670A missense 0.00002471●●●●●●
156. 21108382 c.2026G>A p.V676M missense 0.00002471●●●●●●
157. 21186121 c.14T>C p.V5A missense 0.00002395●●●●●●
158. 21186099 c.36A>C p.E12D missense 0.00002046●●●●●●
159. 21117561 c.1674A>C p.R558S missense 0.00002013●●●●●●
160. 21076236 c.2763A>G splice site 0.00001885●●●●●●
161. 21117525 c.1710C>G p.N570K missense 0.00001715●●●●●●
162. 21117520 c.1715C>T p.S572F missense 0.00001708●●●●●●
163. 21117477 c.1758_1762delTCAAC p.Gln587LysfsTer3 frameshift 0.00001696●●●●●●
164. 21117512 c.1723G>A p.A575T missense 0.00001695●●●●●●
165. 21129690 c.1316G>A p.R439Q missense 0.00001691●●●●●●
166. 21117487 c.1748T>C p.I583T missense 0.00001690●●●●●●
167. 21117503 c.1732C>T p.P578S missense 0.00001690●●●●●●
168. 21129709 c.1297G>T p.D433Y missense 0.00001688●●●●●●
169. 21134300 c.1117-3C>T splice site 0.00001683●●●●●●
170. 21134182 c.1227+5G>C splice site 0.00001680●●●●●●
171. 21178881 c.154-3dupT splice site 0.00001670●●●●●●
172. 21148636 c.798+6T>C splice site 0.00001670●●●●●●
173. 21115467 c.1778T>C p.V593A missense 0.00001670●●●●●●
174. 21178878 c.154A>G p.I52V missense 0.00001668●●●●●●
175. 21115461 c.1784A>G p.Y595C missense 0.00001666●●●●●●
176. 21112153 c.1946A>G p.Q649R missense 0.00001665●●●●●●
177. 21178875 c.157C>T p.R53C missense 0.00001664●●●●●●
178. 21148702 c.738C>G p.Y246X nonsense 0.00001664●●●●●●
179. 21112204 c.1895A>G p.H632R missense 0.00001663●●●●●●
180. 21148649 c.791C>T p.A264V missense 0.00001660●●●●●●
181. 21147164 c.903+5G>A splice site 0.00001659●●●●●●
182. 21148655 c.785C>T p.T262I missense 0.00001658●●●●●●
183. 21134206 c.1208T>C p.I403T missense 0.00001658●●●●●●
184. 21134270 c.1144G>A p.E382K missense 0.00001657●●●●●●
185. 21120496 c.1466A>T p.D489V missense 0.00001657●●●●●●
186. 21098729 c.2611+6A>G splice site 0.00001657●●●●●●
187. 21148671 c.769A>G p.N257D missense 0.00001656●●●●●●
188. 21120132 c.1664A>G p.Y555C missense 0.00001655●●●●●●
189. 21178865 c.167A>C p.E56A missense 0.00001655●●●●●●
190. 21147171 c.901G>A p.G301S missense 0.00001655●●●●●●
191. 21169842 c.370-9G>A splice site 0.00001655●●●●●●
192. 21098747 c.2599C>T p.H867Y missense 0.00001655●●●●●●
193. 21120137 c.1659A>T p.E553D missense 0.00001654●●●●●●
194. 21177020 c.369+6G>A splice site 0.00001654●●●●●●
195. 21098812 c.2534G>C p.R845P missense 0.00001654●●●●●●
196. 21178774 c.258G>C p.E86D missense 0.00001653●●●●●●
197. 21098797 c.2549C>T p.S850F missense 0.00001653●●●●●●
198. 21177131 c.264A>C p.K88N missense 0.00001653●●●●●●
199. 21104553 c.2241+1G>A essential splice site 0.00001652●●●●●●
200. 21074719 c.3002G>A p.R1001K missense 0.00001652●●●●●●
201. 21097532 c.2668G>A p.G890S missense 0.00001652●●●●●●
202. 21158749 c.502C>T p.Q168X nonsense 0.00001651●●●●●●
203. 21147200 c.872A>G p.H291R missense 0.00001651●●●●●●
204. 21147211 c.861_863delGTT p.L287_F288delinsF inframe 0.00001651●●●●●●
205. 21147214 c.858G>C p.L286F missense 0.00001651●●●●●●
206. 21102939 c.2275G>C p.G759R missense 0.00001651●●●●●●
207. 21102904 c.2310G>A p.M770I missense 0.00001651●●●●●●
208. 21158752 c.499G>A p.V167M missense 0.00001651●●●●●●
209. 21147215 c.857T>A p.L286X nonsense 0.00001651●●●●●●
210. 21097474 c.2726G>A p.C909Y missense 0.00001650●●●●●●
211. 21097482 c.2718C>A p.S906R missense 0.00001650●●●●●●
212. 21177111 c.284C>T p.A95V missense 0.00001650●●●●●●
213. 21120422 c.1540G>T p.A514S missense 0.00001650●●●●●●
214. 21097453 c.2747C>G p.P916R missense 0.00001650●●●●●●
215. 21158745 c.506A>G p.D169G missense 0.00001650●●●●●●
216. 21158736 c.515C>A p.T172K missense 0.00001650●●●●●●
217. 21097496 c.2704G>A p.E902K missense 0.00001650●●●●●●
218. 21158713 c.538C>T p.P180S missense 0.00001649●●●●●●
219. 21177070 c.325A>G p.I109V missense 0.00001649●●●●●●
220. 21157666 c.611T>C p.M204T missense 0.00001649●●●●●●
221. 21158703 c.548A>G p.K183R missense 0.00001649●●●●●●
222. 21158715 c.536G>A p.R179Q missense 0.00001649●●●●●●
223. 21106537 c.2140A>G p.I714V missense 0.00001649●●●●●●
224. 21139324 c.1116A>C p.E372D missense 0.00001649●●●●●●
225. 21169773 c.430G>C p.E144Q missense 0.00001648●●●●●●
226. 21157627 c.650A>G p.E217G missense 0.00001648●●●●●●
227. 21124462 c.1429G>C p.A477P missense 0.00001648●●●●●●
228. 21106552 c.2125G>T p.E709X nonsense 0.00001648●●●●●●
229. 21124495 c.1396A>G p.T466A missense 0.00001648●●●●●●
230. 21108412 c.1996C>T p.P666S missense 0.00001648●●●●●●
231. 21169713 c.480+10C>A splice site 0.00001648●●●●●●
232. 21106573 c.2104C>T p.P702S missense 0.00001648●●●●●●
233. 21124537 c.1354G>A p.D452N missense 0.00001648●●●●●●
234. 21108345 c.2055+8G>C splice site 0.00001648●●●●●●
235. 21124474 c.1417C>T p.H473Y missense 0.00001648●●●●●●
236. 21108386 c.2022G>C p.E674D missense 0.00001648●●●●●●
237. 21106567 c.2110C>A p.L704M missense 0.00001648●●●●●●
238. 21124541 c.1350G>T p.K450N missense 0.00001648●●●●●●
239. 21169729 c.474G>C p.Q158H missense 0.00001648●●●●●●
240. 21185903 c.137C>T p.T46M missense 0.00001647●●●●●●
241. 21108388 c.2020G>A p.E674K missense 0.00001647●●●●●●
242. 21186130 c.5G>A p.R2K missense 0.00001472●●●●●●
243. 21186125 c.10C>G p.P4A missense 0.00001272●●●●●●
244. 21186122 c.13G>A p.V5I missense 0.00001246●●●●●●
245. 21186109 c.26T>C p.I9T missense 0.00001102●●●●●●
246. 21129774 c.1232A>C p.E411A missense 0.00001094●●●●●●
247. 21148763 c.685-8T>C splice site 0.00001094●●●●●●
248. 21186105 c.30A>C p.K10N missense 0.00001062●●●●●●
249. 21076131 c.2868A>G splice site 0.00001040●●●●●●
250. 21148753 c.687T>G p.I229M missense 0.00001031●●●●●●
251. 21117562 c.1673G>A p.R558K missense 0.00001015●●●●●●
252. 21186097 c.38C>T p.T13I missense 0.00001011●●●●●●
253. 21117559 c.1676A>G p.K559R missense 0.00000994●●●●●●
254. 21129762 c.1244A>C p.D415A missense 0.00000987●●●●●●
255. 21177144 c.259-8T>C splice site 0.00000976●●●●●●
256. 21141584 c.904-6T>C splice site 0.00000976●●●●●●
257. 21141583 c.904-5T>G splice site 0.00000971●●●●●●
258. 21129759 c.1247T>A p.L416X nonsense 0.00000965●●●●●●
259. 21129756 c.1250A>G p.E417G missense 0.00000950●●●●●●
260. 21186086 c.49A>C p.K17Q missense 0.00000947●●●●●●
261. 21141577 c.905G>A p.R302Q missense 0.00000946●●●●●●
262. 21076149 c.2850G>A p.M950I missense 0.00000928●●●●●●
263. 21129753 c.1253delA p.Asn418MetfsTer3 frameshift 0.00000928●●●●●●
264. 21141575 c.907G>C p.E303Q missense 0.00000928●●●●●●
265. 21141571 c.911A>G p.Y304C missense 0.00000913●●●●●●
266. 21076222 c.2777G>C p.G926A missense 0.00000897●●●●●●
267. 21186076 c.59A>T p.E20V missense 0.00000897●●●●●●
268. 21076220 c.2779G>T p.A927S missense 0.00000891●●●●●●
269. 21148730 c.710A>G p.N237S missense 0.00000885●●●●●●
270. 21129742 c.1264G>A p.G422R missense 0.00000884●●●●●●
271. 21129662 c.1338+6T>C splice site 0.00000883●●●●●●
272. 21076212 c.2787G>C p.Q929H missense 0.00000878●●●●●●
273. 21076171 c.2828G>C p.S943T missense 0.00000875●●●●●●
274. 21076171 c.2828G>T p.S943I missense 0.00000875●●●●●●
275. 21076207 c.2792G>A p.S931N missense 0.00000873●●●●●●
276. 21076174 c.2825C>T p.T942I missense 0.00000872●●●●●●
277. 21074678 c.3043T>G p.Ter1015GluextTer7 nonsense 0.00000869●●●●●●
278. 21076181 c.2818C>A p.H940N missense 0.00000869●●●●●●
279. 21186070 c.65A>C p.E22A missense 0.00000867●●●●●●
280. 21117451 c.1776+8G>A splice site 0.00000864●●●●●●
281. 21117529 c.1706C>G p.S569C missense 0.00000863●●●●●●
282. 21141560 c.922T>G p.F308V missense 0.00000862●●●●●●
283. 21129672 c.1334G>C p.S445T missense 0.00000861●●●●●●
284. 21117459 c.1776G>A p.A592A splice site 0.00000857●●●●●●
285. 21186066 c.69T>A p.N23K missense 0.00000857●●●●●●
286. 21148723 c.717G>A p.M239I missense 0.00000857●●●●●●
287. 21141559 c.923T>C p.F308S missense 0.00000856●●●●●●
288. 21129727 c.1279C>T p.L427F missense 0.00000854●●●●●●
289. 21186068 c.67_72delAATGAA p.Asn23_Glu24del inframe 0.00000853●●●●●●
290. 21117467 c.1768A>T p.I590F missense 0.00000850●●●●●●
291. 21177140 c.259-4C>G splice site 0.00000850●●●●●●
292. 21117514 c.1721T>C p.I574T missense 0.00000849●●●●●●
293. 21117513 c.1722A>G p.I574M missense 0.00000849●●●●●●
294. 21117469 c.1766A>G p.N589S missense 0.00000849●●●●●●
295. 21117511 c.1724C>G p.A575G missense 0.00000847●●●●●●
296. 21129716 c.1290A>C p.E430D missense 0.00000846●●●●●●
297. 21129714 c.1292T>C p.V431A missense 0.00000845●●●●●●
298. 21147277 c.799-4A>G splice site 0.00000844●●●●●●
299. 21120516 c.1450-4G>A splice site 0.00000844●●●●●●
300. 21129702 c.1304A>G p.Q435R missense 0.00000843●●●●●●
301. 21112227 c.1872G>A splice site 0.00000842●●●●●●
302. 21101867 c.2349A>G splice site 0.00000840●●●●●●
303. 21120513 c.1450-1G>A essential splice site 0.00000840●●●●●●
304. 21120512 c.1450A>C p.K484Q missense 0.00000839●●●●●●
305. 21186055 c.80A>C p.Q27P missense 0.00000836●●●●●●
306. 21112220 c.1879A>G p.K627E missense 0.00000836●●●●●●
307. 21147268 c.804G>T p.K268N missense 0.00000835●●●●●●
308. 21148706 c.734A>C p.H245P missense 0.00000835●●●●●●
309. 21115468 c.1777G>T p.V593L missense 0.00000835●●●●●●
310. 21141547 c.935_936dupAA p.Gly313LysfsTer26 frameshift 0.00000835●●●●●●
311. 21115466 c.1779A>G splice site 0.00000835●●●●●●
312. 21141544 c.938G>T p.G313V missense 0.00000835●●●●●●
313. 21120508 c.1454A>G p.D485G missense 0.00000835●●●●●●
314. 21112147 c.1952A>C p.N651T missense 0.00000835●●●●●●
315. 21147265 c.807C>G p.Y269X nonsense 0.00000834●●●●●●
316. 21112210 c.1889T>A p.I630N missense 0.00000833●●●●●●
317. 21178876 c.156C>T splice site 0.00000833●●●●●●
318. 21139431 c.1009G>T p.V337L missense 0.00000833●●●●●●
319. 21178876 c.156C>A splice site 0.00000833●●●●●●
320. 21112151 c.1948A>G p.K650E missense 0.00000833●●●●●●
321. 21120505 c.1457A>G p.Y486C missense 0.00000833●●●●●●
322. 21177136 c.259G>C p.A87P missense 0.00000832●●●●●●
323. 21148643 c.797A>G p.N266S missense 0.00000832●●●●●●
324. 21134284 c.1130A>G p.E377G missense 0.00000832●●●●●●
325. 21148642 c.798T>C splice site 0.00000832●●●●●●
326. 21177136 c.259G>A p.A87T missense 0.00000832●●●●●●
327. 21102981 c.2242-9A>G splice site 0.00000831●●●●●●
328. 21097582 c.2618C>T p.A873V missense 0.00000831●●●●●●
329. 21120501 c.1461A>C p.K487N missense 0.00000831●●●●●●
330. 21147258 c.814G>C p.D272H missense 0.00000831●●●●●●
331. 21186051 c.81+3G>A splice site 0.00000831●●●●●●
332. 21134282 c.1132G>A p.D378N missense 0.00000831●●●●●●
333. 21134200 c.1214A>G p.N405S missense 0.00000830●●●●●●
334. 21104648 c.2149-2A>G essential splice site 0.00000830●●●●●●
335. 21147257 c.815A>G p.D272G missense 0.00000830●●●●●●
336. 21112172 c.1927_1928delAA p.Lys643GlufsTer3 frameshift 0.00000830●●●●●●
337. 21148695 c.745C>A p.L249I missense 0.00000830●●●●●●
338. 21112195 c.1904C>T p.A635V missense 0.00000830●●●●●●
339. 21148652 c.788dupT p.Ala264GlyfsTer15 frameshift 0.00000830●●●●●●
340. 21134207 c.1207A>G p.I403V missense 0.00000829●●●●●●
341. 21112174 c.1925T>C p.L642P missense 0.00000829●●●●●●
342. 21134271 c.1143G>T p.K381N missense 0.00000829●●●●●●
343. 21098829 c.2519-2A>G essential splice site 0.00000829●●●●●●
344. 21104647 c.2149-1G>A essential splice site 0.00000829●●●●●●
345. 21120120 c.1671+5G>C splice site 0.00000828●●●●●●
346. 21134219 c.1195C>T p.H399Y missense 0.00000828●●●●●●
347. 21148676 c.764G>A p.R255K missense 0.00000828●●●●●●
348. 21120124 c.1671+1G>A essential splice site 0.00000828●●●●●●
349. 21141532 c.950T>C p.F317S missense 0.00000828●●●●●●
350. 21120497 c.1465_1466delGA p.Asp489SerfsTer4 frameshift 0.00000828●●●●●●
351. 21102971 c.2243T>C p.V748A missense 0.00000828●●●●●●
352. 21098821 c.2525A>G p.K842R missense 0.00000828●●●●●●
353. 21098742 c.2604G>A p.M868I missense 0.00000828●●●●●●
354. 21134219 c.1195C>A p.H399N missense 0.00000828●●●●●●
355. 21134234 c.1180A>G p.T394A missense 0.00000828●●●●●●
356. 21186046 c.81+8A>G splice site 0.00000828●●●●●●
357. 21098750 c.2596C>T p.L866F missense 0.00000828●●●●●●
358. 21134256 c.1158G>C p.R386S missense 0.00000828●●●●●●
359. 21120496 c.1466A>G p.D489G missense 0.00000828●●●●●●
360. 21134242 c.1172delT p.Leu391Ter frameshift 0.00000828●●●●●●
361. 21104636 c.2159G>A p.R720K missense 0.00000828●●●●●●
362. 21098753 c.2593A>G p.S865G missense 0.00000827●●●●●●
363. 21157694 c.583G>A p.A195T missense 0.00000827●●●●●●
364. 21120156 c.1640G>A p.R547Q missense 0.00000827●●●●●●
365. 21097553 c.2647T>C p.S883P missense 0.00000827●●●●●●
366. 21101834 c.2382dupG p.Arg795GlufsTer28 frameshift 0.00000827●●●●●●
367. 21074714 c.3007G>A p.G1003R missense 0.00000827●●●●●●
368. 21098756 c.2590A>G p.R864G missense 0.00000827●●●●●●
369. 21098768 c.2578_2579delAA p.Asn860TyrfsTer4 frameshift 0.00000827●●●●●●
370. 21147242 c.830A>G p.H277R missense 0.00000827●●●●●●
371. 21120491 c.1471G>T p.E491X nonsense 0.00000827●●●●●●
372. 21097555 c.2645G>A p.R882Q missense 0.00000827●●●●●●
373. 21104634 c.2161G>C p.G721R missense 0.00000827●●●●●●
374. 21098765 c.2581A>G p.I861V missense 0.00000827●●●●●●
375. 21120137 c.1659A>C p.E553D missense 0.00000827●●●●●●
376. 21141515 c.967G>C p.E323Q missense 0.00000826●●●●●●
377. 21120483 c.1479A>T p.E493D missense 0.00000826●●●●●●
378. 21120174 c.1622A>G p.D541G missense 0.00000826●●●●●●
379. 21097547 c.2653T>C p.S885P missense 0.00000826●●●●●●
380. 21102957 c.2257G>A p.D753N missense 0.00000826●●●●●●
381. 21104591 c.2204T>A p.M735K missense 0.00000826●●●●●●
382. 21147189 c.883G>A p.A295T missense 0.00000826●●●●●●
383. 21098797 c.2549C>G p.S850C missense 0.00000826●●●●●●
384. 21178854 c.178A>G p.K60E missense 0.00000826●●●●●●
385. 21104621 c.2174G>C p.R725T missense 0.00000826●●●●●●
386. 21177123 c.272G>T p.G91V missense 0.00000826●●●●●●
387. 21102899 c.2315A>T p.H772L missense 0.00000826●●●●●●
388. 21102885 c.2329C>T p.Q777X nonsense 0.00000826●●●●●●
389. 21158755 c.496G>A p.D166N missense 0.00000826●●●●●●
390. 21147228 c.844G>A p.D282N missense 0.00000826●●●●●●
391. 21098780 c.2566C>T p.P856S missense 0.00000826●●●●●●
392. 21147184 c.888delC p.Ser296ArgfsTer42 frameshift 0.00000826●●●●●●
393. 21120178 c.1618A>G p.M540V missense 0.00000826●●●●●●
394. 21120395 c.1560+7C>G splice site 0.00000826●●●●●●
395. 21177025 c.369+1G>A essential splice site 0.00000826●●●●●●
396. 21178856 c.176A>G p.K59R missense 0.00000826●●●●●●
397. 21177124 c.271G>A p.G91S missense 0.00000826●●●●●●
398. 21102891 c.2323G>A p.E775K missense 0.00000826●●●●●●
399. 21098786 c.2560C>T p.L854F missense 0.00000826●●●●●●
400. 21102948 c.2266C>T p.Q756X nonsense 0.00000826●●●●●●
401. 21120184 c.1612G>A p.V538M missense 0.00000826●●●●●●
402. 21101821 c.2395C>G p.P799A missense 0.00000826●●●●●●
403. 21158752 c.499G>C p.V167L missense 0.00000826●●●●●●
404. 21120481 c.1481T>G p.I494S missense 0.00000826●●●●●●
405. 21158761 c.490A>G p.R164G missense 0.00000826●●●●●●
406. 21178782 c.250A>T p.I84F missense 0.00000826●●●●●●
407. 21147238 c.834T>A p.D278E missense 0.00000826●●●●●●
408. 21097438 c.2761+1G>T essential splice site 0.00000826●●●●●●
409. 21097437 c.2761+2T>C essential splice site 0.00000826●●●●●●
410. 21120187 c.1609C>A p.Q537K missense 0.00000826●●●●●●
411. 21158661 c.582+8C>G splice site 0.00000826●●●●●●
412. 21157688 c.589T>C p.Y197H missense 0.00000826●●●●●●
413. 21104612 c.2183C>T p.T728I missense 0.00000826●●●●●●
414. 21102894 c.2320A>G p.K774E missense 0.00000826●●●●●●
415. 21141473 c.1008+1G>T essential splice site 0.00000825●●●●●●
416. 21158738 c.513C>A p.H171Q missense 0.00000825●●●●●●
417. 21120434 c.1528A>G p.R510G missense 0.00000825●●●●●●
418. 21157678 c.599G>C p.G200A missense 0.00000825●●●●●●
419. 21120452 c.1510_1513delGACA p.Asp504LeufsTer23 frameshift 0.00000825●●●●●●
420. 21178793 c.239T>A p.I80N missense 0.00000825●●●●●●
421. 21101704 c.2512_2514delATT p.Ile838del inframe 0.00000825●●●●●●
422. 21177106 c.289C>G p.L97V missense 0.00000825●●●●●●
423. 21074843 c.2878C>G p.R960G missense 0.00000825●●●●●●
424. 21101809 c.2407G>A p.D803N missense 0.00000825●●●●●●
425. 21120406 c.1556G>A p.S519N missense 0.00000825●●●●●●
426. 21141469 c.1008+5A>T splice site 0.00000825●●●●●●
427. 21097501 c.2699T>A p.I900N missense 0.00000825●●●●●●
428. 21106529 c.2148T>A p.N716K missense 0.00000825●●●●●●
429. 21097520 c.2680G>C p.G894R missense 0.00000825●●●●●●
430. 21097454 c.2746C>T p.P916S missense 0.00000825●●●●●●
431. 21101788 c.2428A>G p.R810G missense 0.00000825●●●●●●
432. 21101715 c.2501G>A p.R834K missense 0.00000825●●●●●●
433. 21158743 c.508A>C p.T170P missense 0.00000825●●●●●●
434. 21178815 c.217A>G p.M73V missense 0.00000825●●●●●●
435. 21157678 c.599G>T p.G200V missense 0.00000825●●●●●●
436. 21157676 c.601C>A p.Q201K missense 0.00000825●●●●●●
437. 21177072 c.323C>T p.T108I missense 0.00000825●●●●●●
438. 21101815 c.2401G>A p.V801M missense 0.00000825●●●●●●
439. 21115374 c.1869+2dupT essential splice site 0.00000825●●●●●●
440. 21115415 c.1830G>T p.E610D missense 0.00000825●●●●●●
441. 21158749 c.502C>G p.Q168E missense 0.00000825●●●●●●
442. 21147203 c.869A>G p.D290G missense 0.00000825●●●●●●
443. 21074762 c.2959A>G p.I987V missense 0.00000825●●●●●●
444. 21158705 c.546C>G p.I182M missense 0.00000825●●●●●●
445. 21120435 c.1527G>C p.Q509H missense 0.00000825●●●●●●
446. 21097520 c.2680G>A p.G894R missense 0.00000825●●●●●●
447. 21097510 c.2690G>A p.R897K missense 0.00000825●●●●●●
448. 21106528 c.2148+1G>T essential splice site 0.00000825●●●●●●
449. 21120441 c.1521T>A p.D507E missense 0.00000825●●●●●●
450. 21157667 c.610A>G p.M204V missense 0.00000825●●●●●●
451. 21101698 c.2518G>T p.D840Y missense 0.00000825●●●●●●
452. 21101692 c.2518+6C>G splice site 0.00000825●●●●●●
453. 21177086 c.309G>T p.K103N missense 0.00000825●●●●●●
454. 21158680 c.571A>T p.I191F missense 0.00000825●●●●●●
455. 21157682 c.595A>G p.K199E missense 0.00000825●●●●●●
456. 21177115 c.280A>G p.K94E missense 0.00000825●●●●●●
457. 21115379 c.1866T>G p.S622R missense 0.00000825●●●●●●
458. 21101703 c.2513T>C p.I838T missense 0.00000825●●●●●●
459. 21177069 c.326T>A p.I109N missense 0.00000825●●●●●●
460. 21101695 c.2518+3A>T splice site 0.00000825●●●●●●
461. 21158709 c.542A>G p.D181G missense 0.00000825●●●●●●
462. 21141497 c.985G>A p.G329S missense 0.00000825●●●●●●
463. 21120433 c.1529G>T p.R510I missense 0.00000825●●●●●●
464. 21157672 c.605G>T p.G202V missense 0.00000825●●●●●●
465. 21097516 c.2684A>C p.D895A missense 0.00000825●●●●●●
466. 21106529 c.2148T>C splice site 0.00000825●●●●●●
467. 21102909 c.2305G>C p.A769P missense 0.00000825●●●●●●
468. 21097471 c.2729G>A p.C910Y missense 0.00000825●●●●●●
469. 21177063 c.332G>A p.S111N missense 0.00000825●●●●●●
470. 21101760 c.2456C>A p.A819D missense 0.00000825●●●●●●
471. 21074840 c.2881G>A p.A961T missense 0.00000825●●●●●●
472. 21101805 c.2411C>A p.P804H missense 0.00000825●●●●●●
473. 21101699 c.2517T>G splice site 0.00000825●●●●●●
474. 21101787 c.2429G>A p.R810K missense 0.00000825●●●●●●
475. 21158748 c.503A>T p.Q168L missense 0.00000825●●●●●●
476. 21178847 c.185A>G p.K62R missense 0.00000825●●●●●●
477. 21158691 c.560A>G p.Q187R missense 0.00000825●●●●●●
478. 21097499 c.2701T>C p.S901P missense 0.00000825●●●●●●
479. 21177118 c.277A>G p.I93V missense 0.00000825●●●●●●
480. 21115417 c.1828G>C p.E610Q missense 0.00000825●●●●●●
481. 21185901 c.139G>A p.E47K missense 0.00000824●●●●●●
482. 21185928 c.112A>C p.S38R missense 0.00000824●●●●●●
483. 21108376 c.2032C>T p.R678X nonsense 0.00000824●●●●●●
484. 21106547 c.2130C>G p.N710K missense 0.00000824●●●●●●
485. 21157619 c.658G>A p.V220M missense 0.00000824●●●●●●
486. 21169734 c.469C>T p.H157Y missense 0.00000824●●●●●●
487. 21124515 c.1376G>A p.G459E missense 0.00000824●●●●●●
488. 21124488 c.1403C>T p.T468I missense 0.00000824●●●●●●
489. 21169770 c.433C>G p.P145A missense 0.00000824●●●●●●
490. 21157592 c.684+1G>T essential splice site 0.00000824●●●●●●
491. 21185927 c.113G>A p.S38N missense 0.00000824●●●●●●
492. 21139341 c.1099C>T p.Q367X nonsense 0.00000824●●●●●●
493. 21106600 c.2077C>T p.Q693X nonsense 0.00000824●●●●●●
494. 21124554 c.1339-2A>G essential splice site 0.00000824●●●●●●
495. 21139377 c.1063G>T p.V355F missense 0.00000824●●●●●●
496. 21157625 c.652C>T p.H218Y missense 0.00000824●●●●●●
497. 21157645 c.632T>A p.I211N missense 0.00000824●●●●●●
498. 21106594 c.2083G>A p.G695R missense 0.00000824●●●●●●
499. 21169779 c.424A>C p.M142L missense 0.00000824●●●●●●
500. 21074824 c.2897G>T p.S966I missense 0.00000824●●●●●●
501. 21169730 c.473A>G p.Q158R missense 0.00000824●●●●●●
502. 21185882 c.153+5G>A splice site 0.00000824●●●●●●
503. 21108379 c.2029A>T p.R677W missense 0.00000824●●●●●●
504. 21106567 c.2110C>G p.L704V missense 0.00000824●●●●●●
505. 21157601 c.676T>C p.S226P missense 0.00000824●●●●●●
506. 21169767 c.436C>T p.P146S missense 0.00000824●●●●●●
507. 21169745 c.458A>T p.E153V missense 0.00000824●●●●●●
508. 21124524 c.1367T>C p.I456T missense 0.00000824●●●●●●
509. 21185939 c.101T>C p.I34T missense 0.00000824●●●●●●
510. 21124444 c.1447G>A p.E483K missense 0.00000824●●●●●●
511. 21139343 c.1097C>T p.A366V missense 0.00000824●●●●●●
512. 21106602 c.2075T>G p.L692R missense 0.00000824●●●●●●
513. 21108357 c.2051G>A p.S684N missense 0.00000824●●●●●●
514. 21108443 c.1965C>G splice site 0.00000824●●●●●●
515. 21169805 c.398C>T p.A133V missense 0.00000824●●●●●●
516. 21169732 c.471C>G p.H157Q missense 0.00000824●●●●●●
517. 21124473 c.1418A>T p.H473L missense 0.00000824●●●●●●
518. 21074831 c.2890G>A p.D964N missense 0.00000824●●●●●●
519. 21108403 c.2005A>T p.M669L missense 0.00000824●●●●●●
520. 21157640 c.637delA p.Arg213AspfsTer27 frameshift 0.00000824●●●●●●
521. 21185903 c.137C>G p.T46R missense 0.00000824●●●●●●
522. 21157593 c.684A>G splice site 0.00000824●●●●●●
523. 21106557 c.2120C>T p.A707V missense 0.00000824●●●●●●
524. 21157636 c.641C>T p.P214L missense 0.00000824●●●●●●
525. 21108385 c.2023A>T p.Arg675Ter nonsense 0.00000824●●●●●●
526. 21157605 c.672A>T p.K224N missense 0.00000824●●●●●●
527. 21169775 c.428A>G p.K143R missense 0.00000824●●●●●●
528. 21108414 c.1994C>T p.T665I missense 0.00000824●●●●●●
529. 21074817 c.2904G>C p.Q968H missense 0.00000824●●●●●●
530. 21185957 c.83_93delTCTTCTATAAG p.Val28AlafsTer4 frameshift 0.00000824●●●●●●
531. 21185951 c.89A>G p.Y30C missense 0.00000824●●●●●●
532. 21124446 c.1445G>A p.S482N missense 0.00000824●●●●●●
533. 21185895 c.145A>G p.I49V missense 0.00000824●●●●●●
534. 21106546 c.2131C>T p.Q711X nonsense 0.00000824●●●●●●
535. 21169733 c.470A>T p.H157L missense 0.00000824●●●●●●
536. 21124509 c.1382G>A p.G461E missense 0.00000824●●●●●●
537. 21124492 c.1399G>A p.D467N missense 0.00000824●●●●●●
538. 21108406 c.2002A>G p.S668G missense 0.00000824●●●●●●
539. 21169808 c.395delC p.Ala132ValfsTer11 frameshift 0.00000824●●●●●●
540. 21169728 c.475A>G p.S159G missense 0.00000824●●●●●●
541. 21185904 c.136A>G p.T46A missense 0.00000824●●●●●●
542. 21106575 c.2102C>T p.P701L missense 0.00000824●●●●●●
543. 21124509 c.1382delG p.Gly461GlufsTer20 frameshift 0.00000824●●●●●●
544. 21139352 c.1088C>T p.S363L missense 0.00000824●●●●●●
545. 21124434 c.1449+8G>C splice site 0.00000824●●●●●●
546. 21157639 c.638G>T p.R213I missense 0.00000824●●●●●●
547. 21157613 c.664G>T p.A222S missense 0.00000824●●●●●●
548. 21169755 c.448C>T p.H150Y missense 0.00000824●●●●●●
549. 21108452 c.1963-7C>G splice site 0.00000824●●●●●●
550. 21074818 c.2903A>G p.Q968R missense 0.00000824●●●●●●
551. 21185927 c.113G>T p.S38I missense 0.00000824●●●●●●
552. 21124462 c.1429G>A p.A477T missense 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.