NFKB1 variants in ExAC

NFKB1 gene summary
NFKB1 variants in

The table below lists the NFKB1 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. 103534741 c.2749+3dupA splice site 0.07056774●●●●●●
2. 103527655 c.1755G>A p.T585T splice site 0.00981054●●●●●●
3. 103518700 c.1519A>G p.M507V missense 0.00974852●●●●●●
4. 103528817 c.2136T>G p.H712Q missense 0.00212626●●●●●●
5. 103527745 c.1845G>T p.L615F missense 0.00194383●●●●●●
6. 103534578 c.2593-4A>G splice site 0.00192056●●●●●●
7. 103522150 c.1736G>A p.R579K missense 0.00183002●●●●●●
8. 103534741 c.2749+3delA splice site 0.00138348●●●●●●
9. 103516041 c.1211-8C>T splice site 0.00129358●●●●●●
10. 103533195 c.2353-6C>T splice site 0.00095683●●●●●●
11. 103517463 c.1469C>T p.T490I missense 0.00084986●●●●●●
12. 103522114 c.1700C>T p.T567I missense 0.00065915●●●●●●
13. 103500059 c.593G>A p.R198H missense 0.00051162●●●●●●
14. 103534742 c.2749+4A>C splice site 0.00046750●●●●●●
15. 103518782 c.1601G>A p.R534H missense 0.00044552●●●●●●
16. 103498201 c.571+5G>A splice site 0.00036889●●●●●●
17. 103537672 c.2831C>A p.T944N missense 0.00036247●●●●●●
18. 103527699 c.1799A>C p.E600A missense 0.00031298●●●●●●
19. 103516045 c.1211-4T>G splice site 0.00028517●●●●●●
20. 103517336 c.1342G>A p.D448N missense 0.00028099●●●●●●
21. 103517382 c.1388T>C p.I463T missense 0.00025554●●●●●●
22. 103537592 c.2751C>T p.D917D splice site 0.00019862●●●●●●
23. 103517423 c.1429G>T p.V477F missense 0.00018980●●●●●●
24. 103527848 c.1948G>A p.G650R missense 0.00017584●●●●●●
25. 103505915 c.1004G>A p.R335Q missense 0.00015702●●●●●●
26. 103488146 c.261C>A splice site 0.00015680●●●●●●
27. 103517418 c.1424C>G p.A475G missense 0.00015672●●●●●●
28. 103518775 c.1594G>A p.V532I missense 0.00014023●●●●●●
29. 103528303 c.1955-4C>T splice site 0.00013219●●●●●●
30. 103527797 c.1897A>G p.S633G missense 0.00011553●●●●●●
31. 103488291 c.406G>A p.G136S missense 0.00010726●●●●●●
32. 103518681 c.1500C>A p.N500K missense 0.00009991●●●●●●
33. 103517421 c.1427C>T p.T476I missense 0.00009075●●●●●●
34. 103522068 c.1654A>G p.I552V missense 0.00008239●●●●●●
35. 103531809 c.2305G>A p.G769R missense 0.00008237●●●●●●
36. 103451009 c.56C>T p.P19L missense 0.00008236●●●●●●
37. 103528463 c.2111G>T p.C704F missense 0.00007446●●●●●●
38. 103537719 c.2878G>A p.G960R missense 0.00006603●●●●●●
39. 103517423 c.1429G>A p.V477I missense 0.00006602●●●●●●
40. 103534741 c.2749+3[3]A splice site 0.00006149●●●●●●
41. 103516146 c.1300+8A>G splice site 0.00005837●●●●●●
42. 103533719 c.2548C>T p.R850W missense 0.00005772●●●●●●
43. 103527768 c.1868C>G p.A623G missense 0.00005766●●●●●●
44. 103451068 c.115A>G p.T39A missense 0.00005331●●●●●●
45. 103534700 c.2711C>T p.S904L missense 0.00005062●●●●●●
46. 103533770 c.2592+7C>A splice site 0.00004973●●●●●●
47. 103500157 c.691C>T p.R231C missense 0.00004949●●●●●●
48. 103537644 c.2803C>T p.R935C missense 0.00004943●●●●●●
49. 103527722 c.1822G>A p.D608N missense 0.00004942●●●●●●
50. 103527853 c.1953C>T splice site 0.00004778●●●●●●
51. 103517301 c.1307T>C p.M436T missense 0.00004238●●●●●●
52. 103517316 c.1322A>G p.K441R missense 0.00004173●●●●●●
53. 103498185 c.560G>A p.R187Q missense 0.00004159●●●●●●
54. 103517456 c.1462A>G p.T488A missense 0.00004153●●●●●●
55. 103498175 c.550G>A p.G184R missense 0.00004141●●●●●●
56. 103537731 c.2890C>T p.P964S missense 0.00004137●●●●●●
57. 103500158 c.692G>A p.R231H missense 0.00004124●●●●●●
58. 103528384 c.2032G>A p.V678I missense 0.00004123●●●●●●
59. 103514641 c.1126G>A p.G376S missense 0.00004119●●●●●●
60. 103514679 c.1164G>T p.M388I missense 0.00004119●●●●●●
61. 103501689 c.731-3C>T splice site 0.00003329●●●●●●
62. 103534597 c.2608G>A p.V870I missense 0.00003305●●●●●●
63. 103533750 c.2579T>C p.M860T missense 0.00003303●●●●●●
64. 103488292 c.407G>C p.G136A missense 0.00003300●●●●●●
65. 103537711 c.2870A>T p.H957L missense 0.00003298●●●●●●
66. 103518736 c.1555G>A p.D519N missense 0.00003298●●●●●●
67. 103517393 c.1399G>A p.E467K missense 0.00003297●●●●●●
68. 103527741 c.1841G>A p.R614H missense 0.00003295●●●●●●
69. 103450988 c.40-5T>C splice site 0.00003273●●●●●●
70. 103516042 c.1211-7G>A splice site 0.00002780●●●●●●
71. 103517477 c.1483G>T p.A495S missense 0.00002528●●●●●●
72. 103517306 c.1312A>G p.T438A missense 0.00002527●●●●●●
73. 103446694 c.19T>C p.Y7H missense 0.00002495●●●●●●
74. 103534664 c.2675C>G p.A892G missense 0.00002484●●●●●●
75. 103537593 c.2752G>A p.E918K missense 0.00002481●●●●●●
76. 103533647 c.2476A>G p.I826V missense 0.00002480●●●●●●
77. 103533220 c.2372G>C p.G791A missense 0.00002479●●●●●●
78. 103533226 c.2378C>G p.P793R missense 0.00002479●●●●●●
79. 103533681 c.2510C>T p.A837V missense 0.00002474●●●●●●
80. 103533720 c.2549G>A p.R850Q missense 0.00002474●●●●●●
81. 103533732 c.2561C>A p.A854D missense 0.00002474●●●●●●
82. 103518742 c.1561G>A p.A521T missense 0.00002473●●●●●●
83. 103531728 c.2228-4G>A splice site 0.00002473●●●●●●
84. 103518743 c.1562C>T p.A521V missense 0.00002473●●●●●●
85. 103488207 c.322C>T p.H108Y missense 0.00002472●●●●●●
86. 103528911 c.2227+3A>G splice site 0.00002472●●●●●●
87. 103527740 c.1840C>T p.R614C missense 0.00002471●●●●●●
88. 103531768 c.2264A>G p.Y755C missense 0.00002471●●●●●●
89. 103527861 c.1954+7G>A splice site 0.00001974●●●●●●
90. 103455000 c.119-2A>T essential splice site 0.00001769●●●●●●
91. 103450986 c.40-7T>C splice site 0.00001724●●●●●●
92. 103517488 c.1494G>A splice site 0.00001718●●●●●●
93. 103534712 c.2723C>T p.S908L missense 0.00001706●●●●●●
94. 103517478 c.1484C>T p.A495V missense 0.00001689●●●●●●
95. 103517474 c.1480A>C p.S494R missense 0.00001681●●●●●●
96. 103498203 c.571+7A>G splice site 0.00001678●●●●●●
97. 103534692 c.2703G>C p.Q901H missense 0.00001676●●●●●●
98. 103534690 c.2701C>G p.Q901E missense 0.00001675●●●●●●
99. 103446714 c.39A>G splice site 0.00001671●●●●●●
100. 103505981 c.1066+4A>C splice site 0.00001667●●●●●●
101. 103498183 c.558C>A p.D186E missense 0.00001662●●●●●●
102. 103533622 c.2451G>C p.K817N missense 0.00001658●●●●●●
103. 103533633 c.2462A>G p.Y821C missense 0.00001656●●●●●●
104. 103517448 c.1454C>T p.T485M missense 0.00001656●●●●●●
105. 103534639 c.2650G>A p.E884K missense 0.00001652●●●●●●
106. 103528441 c.2089G>A p.D697N missense 0.00001652●●●●●●
107. 103488146 c.261C>T splice site 0.00001651●●●●●●
108. 103534626 c.2637A>C p.Q879H missense 0.00001651●●●●●●
109. 103533661 c.2490C>A p.D830E missense 0.00001651●●●●●●
110. 103488151 c.266A>G p.N89S missense 0.00001650●●●●●●
111. 103517395 c.1401G>C p.E467D missense 0.00001649●●●●●●
112. 103500070 c.604C>A p.L202M missense 0.00001649●●●●●●
113. 103533702 c.2531T>C p.I844T missense 0.00001649●●●●●●
114. 103517357 c.1363A>C p.T455P missense 0.00001649●●●●●●
115. 103488177 c.292G>A p.V98I missense 0.00001649●●●●●●
116. 103533728 c.2557C>T p.P853S missense 0.00001649●●●●●●
117. 103528882 c.2201G>T p.R734M missense 0.00001648●●●●●●
118. 103498118 c.493G>A p.G165S missense 0.00001648●●●●●●
119. 103522124 c.1710G>T p.L570F missense 0.00001648●●●●●●
120. 103527783 c.1883A>G p.H628R missense 0.00001648●●●●●●
121. 103537645 c.2804G>A p.R935H missense 0.00001648●●●●●●
122. 103514692 c.1177G>A p.G393S missense 0.00001648●●●●●●
123. 103514614 c.1099C>T p.L367F missense 0.00001648●●●●●●
124. 103514671 c.1156G>A p.G386R missense 0.00001647●●●●●●
125. 103527698 c.1798G>A p.E600K missense 0.00001647●●●●●●
126. 103514668 c.1153G>A p.G385S missense 0.00001647●●●●●●
127. 103451012 c.59C>G p.S20C missense 0.00001144●●●●●●
128. 103451077 c.118+6A>G splice site 0.00001084●●●●●●
129. 103451021 c.68A>G p.H23R missense 0.00001077●●●●●●
130. 103451023 c.70A>G p.T24A missense 0.00001069●●●●●●
131. 103451026 c.73A>G p.I25V missense 0.00001053●●●●●●
132. 103451058 c.105G>A p.M35I missense 0.00001044●●●●●●
133. 103527851 c.1951G>C p.D651H missense 0.00000954●●●●●●
134. 103516108 c.1270A>T p.T424S missense 0.00000910●●●●●●
135. 103516052 c.1214A>G p.Y405C missense 0.00000910●●●●●●
136. 103516106 c.1268G>A p.G423E missense 0.00000908●●●●●●
137. 103534731 c.2742G>T p.Q914H missense 0.00000902●●●●●●
138. 103516084 c.1246G>A p.G416S missense 0.00000898●●●●●●
139. 103454994 c.119-8G>A splice site 0.00000893●●●●●●
140. 103455001 c.119-1G>C essential splice site 0.00000884●●●●●●
141. 103455002 c.119C>A p.A40E missense 0.00000883●●●●●●
142. 103498026 c.408-7T>C splice site 0.00000861●●●●●●
143. 103517488 c.1494G>C p.Q498H missense 0.00000859●●●●●●
144. 103534718 c.2729C>T p.A910V missense 0.00000858●●●●●●
145. 103534715 c.2726C>T p.P909L missense 0.00000854●●●●●●
146. 103501800 c.835+4A>G splice site 0.00000853●●●●●●
147. 103517298 c.1304C>A p.T435N missense 0.00000853●●●●●●
148. 103534708 c.2719C>T p.L907F missense 0.00000850●●●●●●
149. 103517480 c.1486G>C p.G496R missense 0.00000848●●●●●●
150. 103517302 c.1308G>A p.M436I missense 0.00000847●●●●●●
151. 103517307 c.1313C>A p.T438N missense 0.00000842●●●●●●
152. 103446722 c.39+8T>C splice site 0.00000841●●●●●●
153. 103517473 c.1479G>C p.E493D missense 0.00000841●●●●●●
154. 103517472 c.1478A>G p.E493G missense 0.00000840●●●●●●
155. 0 c.-7-7T>G splice site 0.00000840●●●●●●
156. 103446721 c.39+7G>A splice site 0.00000839●●●●●●
157. 103518675 c.1496-2A>C essential splice site 0.00000836●●●●●●
158. 103498195 c.570A>G splice site 0.00000836●●●●●●
159. 103517315 c.1321A>G p.K441E missense 0.00000835●●●●●●
160. 103517321 c.1327G>T p.D443Y missense 0.00000832●●●●●●
161. 103446697 c.22T>A p.L8M missense 0.00000832●●●●●●
162. 103498052 c.427C>T p.L143F missense 0.00000832●●●●●●
163. 103527815 c.1915A>C p.K639Q missense 0.00000832●●●●●●
164. 103446687 c.12T>G p.D4E missense 0.00000832●●●●●●
165. 103505835 c.928-4G>A splice site 0.00000832●●●●●●
166. 103528483 c.2124+7G>A splice site 0.00000830●●●●●●
167. 103528484 c.2124+8G>A splice site 0.00000830●●●●●●
168. 103504086 c.899_900insT p.Ser302PhefsTer7 frameshift 0.00000829●●●●●●
169. 103533771 c.2592+8C>A splice site 0.00000829●●●●●●
170. 103500031 c.572-7G>A splice site 0.00000829●●●●●●
171. 103518688 c.1507C>G p.L503V missense 0.00000829●●●●●●
172. 103533254 c.2406T>G p.D802E missense 0.00000828●●●●●●
173. 103500032 c.572-6C>T splice site 0.00000828●●●●●●
174. 103500033 c.572-5C>T splice site 0.00000828●●●●●●
175. 103537732 c.2891C>A p.P964H missense 0.00000828●●●●●●
176. 103528457 c.2105C>T p.A702V missense 0.00000827●●●●●●
177. 103534582 c.2593G>A p.V865I missense 0.00000827●●●●●●
178. 103534591 c.2602G>C p.G868R missense 0.00000827●●●●●●
179. 103505875 c.964A>G p.I322V missense 0.00000827●●●●●●
180. 103505876 c.965T>C p.I322T missense 0.00000827●●●●●●
181. 103488139 c.259-5T>C splice site 0.00000826●●●●●●
182. 103528304 c.1955-3T>C splice site 0.00000826●●●●●●
183. 103528316 c.1964C>G p.A655G missense 0.00000826●●●●●●
184. 103488140 c.259-4A>G splice site 0.00000826●●●●●●
185. 103522164 c.1750C>A p.Q584K missense 0.00000826●●●●●●
186. 103533659 c.2488G>A p.D830N missense 0.00000826●●●●●●
187. 103533240 c.2392T>G p.F798V missense 0.00000826●●●●●●
188. 103488138 c.259-6A>G splice site 0.00000826●●●●●●
189. 103533756 c.2585A>G p.N862S missense 0.00000826●●●●●●
190. 103528798 c.2125-8G>C splice site 0.00000825●●●●●●
191. 103534627 c.2638A>G p.M880V missense 0.00000825●●●●●●
192. 103518725 c.1544A>G p.N515S missense 0.00000825●●●●●●
193. 103537607 c.2766T>G p.S922R missense 0.00000825●●●●●●
194. 103522161 c.1747T>C p.Y583H missense 0.00000825●●●●●●
195. 103531843 c.2339C>T p.A780V missense 0.00000825●●●●●●
196. 103501721 c.760G>T p.V254L missense 0.00000825●●●●●●
197. 103517413 c.1419C>A p.S473R missense 0.00000825●●●●●●
198. 103488296 c.407+4A>C splice site 0.00000825●●●●●●
199. 103528426 c.2074C>G p.L692V missense 0.00000825●●●●●●
200. 103528342 c.1990A>G p.S664G missense 0.00000825●●●●●●
201. 103533727 c.2556T>G p.S852R missense 0.00000825●●●●●●
202. 103498158 c.533A>G p.Y178C missense 0.00000825●●●●●●
203. 103533740 c.2569A>G p.K857E missense 0.00000825●●●●●●
204. 103500158 c.692G>T p.R231L missense 0.00000825●●●●●●
205. 103534623 c.2634A>T p.R878S missense 0.00000825●●●●●●
206. 103488291 c.406G>T p.G136C missense 0.00000825●●●●●●
207. 103488154 c.269A>T p.Y90F missense 0.00000825●●●●●●
208. 103534619 c.2630T>C p.L877P missense 0.00000825●●●●●●
209. 103528372 c.2020G>A p.A674T missense 0.00000825●●●●●●
210. 103534624 c.2635C>G p.Q879E missense 0.00000825●●●●●●
211. 103500169 c.703G>A p.V235M missense 0.00000825●●●●●●
212. 103537600 c.2759G>A p.R920Q missense 0.00000825●●●●●●
213. 103531728 c.2228-4G>T splice site 0.00000824●●●●●●
214. 103498114 c.489A>G p.I163M missense 0.00000824●●●●●●
215. 103488162 c.277C>T p.P93S missense 0.00000824●●●●●●
216. 103517400 c.1406A>G p.D469G missense 0.00000824●●●●●●
217. 103514600 c.1085G>A p.R362K missense 0.00000824●●●●●●
218. 103527774 c.1874A>G p.K625R missense 0.00000824●●●●●●
219. 103514659 c.1144G>A p.G382R missense 0.00000824●●●●●●
220. 103500148 c.682T>C p.F228L missense 0.00000824●●●●●●
221. 103518749 c.1568C>T p.T523I missense 0.00000824●●●●●●
222. 103488271 c.386G>A p.G129E missense 0.00000824●●●●●●
223. 103517375 c.1381A>T p.K461X nonsense 0.00000824●●●●●●
224. 103531785 c.2281T>A p.W761R missense 0.00000824●●●●●●
225. 103527749 c.1849A>T p.N617Y missense 0.00000824●●●●●●
226. 103537684 c.2843C>T p.S948L missense 0.00000824●●●●●●
227. 103514708 c.1193C>G p.T398S missense 0.00000824●●●●●●
228. 103537662 c.2821G>A p.E941K missense 0.00000824●●●●●●
229. 103498142 c.517C>G p.H173D missense 0.00000824●●●●●●
230. 103488246 c.361G>T p.D121Y missense 0.00000824●●●●●●
231. 103488171 c.286G>C p.V96L missense 0.00000824●●●●●●
232. 103528836 c.2155G>A p.D719N missense 0.00000824●●●●●●
233. 103514669 c.1154G>A p.G385D missense 0.00000824●●●●●●
234. 103537645 c.2804G>T p.R935L missense 0.00000824●●●●●●
235. 103500137 c.671G>A p.S224N missense 0.00000824●●●●●●
236. 103488280 c.395A>C p.D132A missense 0.00000824●●●●●●
237. 103528808 c.2127T>G splice site 0.00000824●●●●●●
238. 103517378 c.1384G>C p.V462L missense 0.00000824●●●●●●
239. 103514711 c.1196G>A p.G399E missense 0.00000824●●●●●●
240. 103527758 c.1858T>A p.L620M missense 0.00000824●●●●●●
241. 103531777 c.2273A>G p.D758G missense 0.00000824●●●●●●
242. 103522110 c.1696G>A p.V566I missense 0.00000824●●●●●●
243. 103514630 c.1115C>T p.S372L missense 0.00000824●●●●●●
244. 103488246 c.361G>A p.D121N missense 0.00000824●●●●●●
245. 103531798 c.2294G>A p.G765E missense 0.00000824●●●●●●
246. 103528869 c.2188A>G p.R730G missense 0.00000824●●●●●●
247. 103500140 c.674C>T p.T225I missense 0.00000824●●●●●●
248. 103537696 c.2855T>C p.L952P missense 0.00000824●●●●●●
249. 103537659 c.2818A>C p.T940P missense 0.00000824●●●●●●
250. 103527672 c.1772T>C p.V591A missense 0.00000824●●●●●●
251. 103498113 c.488T>C p.I163T missense 0.00000824●●●●●●
252. 103517366 c.1372C>T p.L458F missense 0.00000824●●●●●●
253. 103514719 c.1204G>A p.G402S missense 0.00000824●●●●●●
254. 103514653 c.1138G>C p.G380R missense 0.00000824●●●●●●
255. 103527746 c.1846G>A p.G616S missense 0.00000824●●●●●●
256. 103522147 c.1733T>C p.M578T missense 0.00000824●●●●●●
257. 103488247 c.362A>G p.D121G missense 0.00000824●●●●●●
258. 103500114 c.648G>A p.M216I missense 0.00000824●●●●●●
259. 103537660 c.2819C>T p.T940I missense 0.00000824●●●●●●
260. 103527691 c.1791T>A p.D597E 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.