NFKB1 missense variants in ExAC

NFKB1 gene summary
NFKB1 variants in

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