NEXN non-truncating variants in ExAC


The table below lists the NEXN non-truncating variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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 frequencyPopulations*
1. 78395029 c.893C>G p.T298R missense 0.00009984
2. 78395053 c.917G>A p.R306H missense 0.00008319
3. 78392195 c.586C>T p.R196C missense 0.00008306
4. 78392243 c.634T>A p.Y212N missense 0.00006634
5. 78399025 c.1112C>T p.P371L missense 0.00006133
6. 78399103 c.1190G>A p.R397Q missense 0.00005976
7. 78383398 c.175G>A p.E59K missense 0.00005843
8. 78401709 c.1453G>A p.E485K missense 0.00005008
9. 78407874 c.1640T>C p.I547T missense 0.00005007
10. 78392225 c.616G>A p.E206K missense 0.00004977
11. 78383875 c.364G>C p.E122Q missense 0.00004969
12. 78407718 c.1484T>C p.V495A missense 0.00003903
13. 78407723 c.1489G>A p.V497I missense 0.00003831
14. 78390892 c.467C>T p.T156M missense 0.00003344
15. 78408444 c.1958T>C p.M653T missense 0.00003338
16. 78407870 c.1636G>C p.E546Q missense 0.00003337
17. 78401671 c.1415C>G p.A472G missense 0.00003335
18. 78401686 c.1430T>C p.I477T missense 0.00003334
19. 78383380 c.157G>A p.E53K missense 0.00003331
20. 78383873 c.362C>T p.T121M missense 0.00003313
21. 78383891 c.380G>A p.R127H missense 0.00003313
22. 78383903 c.392A>G p.Q131R missense 0.00003313
23. 78383890 c.379C>T p.R127C missense 0.00003313
24. 78381796 c.5_7delATG p.N2_D3delinsN inframe 0.00002908
25. 78399001 c.1088C>G p.T363R missense 0.00002723
26. 78408483 c.1997C>A p.T666N missense 0.00002539
27. 78401727 c.1471G>C p.E491Q missense 0.00002524
28. 78401572 c.1316G>A p.R439K missense 0.00002514
29. 78392548 c.835C>A p.R279S missense 0.00002512
30. 78392531 c.818G>A p.R273H missense 0.00002508
31. 78407849 c.1615C>T p.R539C missense 0.00002502
32. 78407859 c.1625T>G p.F542C missense 0.00002502
33. 78392496 c.783C>G p.N261K missense 0.00002501
34. 78408378 c.1892T>C p.I631T missense 0.00002499
35. 78408380 c.1894G>C p.E632Q missense 0.00002499
36. 78395038 c.902T>A p.I301N missense 0.00002495
37. 78408304 c.1818_1820delAGG p.Gly607del inframe 0.00002494
38. 78383294 c.71C>T p.P24L missense 0.00002493
39. 78383329 c.106G>A p.E36K missense 0.00002490
40. 78392229 c.620A>G p.D207G missense 0.00002489
41. 78395187 c.1051A>G p.M351V missense 0.00002487
42. 78383667 c.242A>T p.D81V missense 0.00002487
43. 78383927 c.416T>C p.I139T missense 0.00002485
44. 78383881 c.370G>A p.E124K missense 0.00002484
45. 78398983 c.1070C>T p.S357F missense 0.00001946
46. 78408505 c.2019T>A p.S673R missense 0.00001797
47. 78408498 c.2012T>C p.I671T missense 0.00001744
48. 78399139 c.1226A>C p.E409A missense 0.00001742
49. 78399136 c.1223T>G p.F408C missense 0.00001735
50. 78407762 c.1528A>G p.K510E missense 0.00001718
51. 78407763 c.1529A>G p.K510R missense 0.00001716
52. 78401516 c.1260A>T p.E420D missense 0.00001709
53. 78399099 c.1186G>A p.E396K missense 0.00001705
54. 78408482 c.1996A>G p.T666A missense 0.00001692
55. 78408155 c.1669_1671delGAG p.Glu560del inframe 0.00001678
56. 78392561 c.848A>T p.E283V missense 0.00001677
57. 78392549 c.836G>A p.R279H missense 0.00001675
58. 78407886 c.1652T>C p.L551P missense 0.00001671
59. 78407829 c.1595T>C p.I532T missense 0.00001670
60. 78408443 c.1957A>G p.M653V missense 0.00001669
61. 78401701 c.1445A>G p.K482R missense 0.00001668
62. 78383387 c.164A>G p.Q55R missense 0.00001666
63. 78408384 c.1898G>C p.R633T missense 0.00001666
64. 78408375 c.1889A>G p.Y630C missense 0.00001666
65. 78408345 c.1859A>G p.E620G missense 0.00001664
66. 78395052 c.916C>A p.R306S missense 0.00001664
67. 78408341 c.1855G>A p.G619R missense 0.00001664
68. 78395042 c.906T>A p.F302L missense 0.00001663
69. 78395047 c.911G>T p.G304V missense 0.00001663
70. 78392161 c.552A>C p.K184N missense 0.00001663
71. 78408257 c.1771A>G p.T591A missense 0.00001662
72. 78408291 c.1805C>T p.T602M missense 0.00001662
73. 78408239 c.1753_1755delAAG p.Lys585del inframe 0.00001662
74. 78408219 c.1733G>C p.R578T missense 0.00001662
75. 78392441 c.728C>G p.S243C missense 0.00001661
76. 78408264 c.1778T>C p.V593A missense 0.00001661
77. 78383675 c.250G>A p.E84K missense 0.00001658
78. 78392289 c.680T>C p.L227S missense 0.00001658
79. 78395166 c.1030T>C p.F344L missense 0.00001658
80. 78383672 c.247G>A p.E83K missense 0.00001658
81. 78383821 c.310G>A p.G104S missense 0.00001657
82. 78383933 c.422G>A p.R141H missense 0.00001657
83. 78383825 c.314G>C p.R105T missense 0.00001657
84. 78407715 c.1481A>T p.D494V missense 0.00000987
85. 78407717 c.1483G>A p.V495I missense 0.00000980
86. 78407718 c.1484T>A p.V495D missense 0.00000976
87. 78381792 c.1A>C p.Met1? missense 0.00000967
88. 78398986 c.1073C>T p.P358L missense 0.00000955
89. 78398997 c.1084A>C p.K362Q missense 0.00000916
90. 78399153 c.1240G>C p.E414Q missense 0.00000897
91. 78399007 c.1094C>G p.S365C missense 0.00000896
92. 78407744 c.1510G>A p.E504K missense 0.00000889
93. 78399012 c.1099G>A p.E367K missense 0.00000887
94. 78407745 c.1511A>G p.E504G missense 0.00000886
95. 78399147 c.1234A>G p.R412G missense 0.00000880
96. 78399140 c.1227A>T p.E409D missense 0.00000873
97. 78399030 c.1117A>C p.K373Q missense 0.00000873
98. 78399138 c.1225G>C p.E409Q missense 0.00000871
99. 78399131 c.1218A>C p.Q406H missense 0.00000863
100. 78399130 c.1217_1219delAAG p.Glu407del inframe 0.00000862
101. 78408491 c.2005C>T p.L669F missense 0.00000856
102. 78399113 c.1200G>C p.K400N missense 0.00000855
103. 78399076 c.1163A>G p.E388G missense 0.00000855
104. 78399108 c.1195C>A p.H399N missense 0.00000854
105. 78399085 c.1172G>A p.R391Q missense 0.00000854
106. 78408488 c.2002A>G p.I668V missense 0.00000854
107. 78407769 c.1535A>G p.N512S missense 0.00000853
108. 78399098 c.1185G>T p.E395D missense 0.00000853
109. 78399102 c.1189C>T p.R397W missense 0.00000853
110. 78401527 c.1271C>T p.T424I missense 0.00000849
111. 78408480 c.1994G>T p.S665I missense 0.00000844
112. 78408480 c.1994G>A p.S665N missense 0.00000844
113. 78407787 c.1553A>T p.E518V missense 0.00000843
114. 78401545 c.1289A>C p.E430A missense 0.00000842
115. 78392577 c.864G>T p.M288I missense 0.00000841
116. 78401725 c.1469A>G p.H490R missense 0.00000841
117. 78401550 c.1294G>A p.E432K missense 0.00000841
118. 78401557 c.1301T>G p.L434R missense 0.00000840
119. 78407806 c.1572_1574dupAGA p.Glu525dup inframe 0.00000839
120. 78401575 c.1319G>A p.S440N missense 0.00000838
121. 78392552 c.839C>G p.A280G missense 0.00000838
122. 78407816 c.1582G>A p.E528K missense 0.00000837
123. 78390900 c.475G>C p.E159Q missense 0.00000836
124. 78407819 c.1585C>A p.Q529K missense 0.00000836
125. 78401611 c.1355T>C p.F452S missense 0.00000836
126. 78390909 c.484T>A p.S162T missense 0.00000836
127. 78408164 c.1678G>A p.E560K missense 0.00000836
128. 78407826 c.1592G>A p.R531K missense 0.00000836
129. 78392522 c.809C>T p.A270V missense 0.00000836
130. 78392108 c.499G>A p.D167N missense 0.00000836
131. 78401631 c.1375T>C p.S459P missense 0.00000836
132. 78407893 c.1659G>C p.K553N missense 0.00000836
133. 78401622 c.1366G>A p.G456R missense 0.00000836
134. 78392535 c.822_824delAGA p.Glu277del inframe 0.00000836
135. 78401713 c.1457C>T p.A486V missense 0.00000835
136. 78383408 c.185T>A p.I62N missense 0.00000835
137. 78401641 c.1385A>T p.E462V missense 0.00000835
138. 78401644 c.1388T>C p.I463T missense 0.00000835
139. 78395115 c.979A>G p.R327G missense 0.00000835
140. 78383398 c.175G>C p.E59Q missense 0.00000835
141. 78395007 c.871G>A p.E291K missense 0.00000834
142. 78408429 c.1943A>G p.D648G missense 0.00000834
143. 78407850 c.1616G>A p.R539H missense 0.00000834
144. 78407861 c.1627G>C p.E543Q missense 0.00000834
145. 78401668 c.1412G>T p.R471L missense 0.00000834
146. 78401656 c.1400T>C p.I467T missense 0.00000834
147. 78392506 c.793C>A p.Q265K missense 0.00000834
148. 78407861 c.1627G>A p.E543K missense 0.00000834
149. 78407855 c.1621C>A p.Q541K missense 0.00000834
150. 78408408 c.1922T>C p.L641S missense 0.00000834
151. 78401665 c.1409A>C p.E470A missense 0.00000834
152. 78407868 c.1634G>C p.R545T missense 0.00000834
153. 78408422 c.1936C>G p.P646A missense 0.00000834
154. 78392498 c.785G>A p.R262Q missense 0.00000834
155. 78401668 c.1412G>A p.R471Q missense 0.00000834
156. 78392498 c.785G>T p.R262L missense 0.00000834
157. 78407868 c.1634G>A p.R545K missense 0.00000834
158. 78392120 c.511A>G p.I171V missense 0.00000834
159. 78408180 c.1694T>C p.I565T missense 0.00000833
160. 78408392 c.1906A>T p.T636S missense 0.00000833
161. 78392126 c.517G>A p.V173M missense 0.00000833
162. 78395011 c.875A>G p.D292G missense 0.00000833
163. 78383278 c.55C>T p.P19S missense 0.00000833
164. 78392129 c.520G>A p.V174I missense 0.00000833
165. 78392480 c.767G>A p.R256Q missense 0.00000833
166. 78408369 c.1883A>G p.Y628C missense 0.00000833
167. 78383276 c.53T>C p.V18A missense 0.00000833
168. 78408384 c.1898G>A p.R633K missense 0.00000833
169. 78395055 c.919C>A p.P307T missense 0.00000832
170. 78408199 c.1713_1718delTGAAGA p.Asp573_Glu574del inframe 0.00000832
171. 78392466 c.753T>G p.F251L missense 0.00000832
172. 78408354 c.1868A>G p.Q623R missense 0.00000832
173. 78395050 c.914A>G p.Y305C missense 0.00000832
174. 78395056 c.920C>T p.P307L missense 0.00000832
175. 78395028 c.892A>G p.T298A missense 0.00000832
176. 78408204 c.1718A>C p.D573A missense 0.00000832
177. 78395052 c.916C>T p.R306C missense 0.00000832
178. 78395022 c.886C>G p.Q296E missense 0.00000832
179. 78383374 c.151A>G p.R51G missense 0.00000832
180. 78392151 c.542C>T p.T181I missense 0.00000832
181. 78408209 c.1723G>A p.E575K missense 0.00000831
182. 78392170 c.561G>T p.K187N missense 0.00000831
183. 78408266 c.1780G>A p.V594I missense 0.00000831
184. 78408218 c.1732A>G p.R578G missense 0.00000831
185. 78392195 c.586C>A p.R196S missense 0.00000831
186. 78383348 c.125G>A p.R42K missense 0.00000831
187. 78408315 c.1829A>G p.K610R missense 0.00000831
188. 78408272 c.1786A>G p.S596G missense 0.00000831
189. 78408209 c.1723G>C p.E575Q missense 0.00000831
190. 78392163 c.554T>C p.M185T missense 0.00000831
191. 78408231 c.1745C>T p.P582L missense 0.00000831
192. 78408289 c.1803T>A p.F601L missense 0.00000831
193. 78408225 c.1739G>A p.G580E missense 0.00000831
194. 78392166 c.557A>C p.K186T missense 0.00000831
195. 78408206 c.1720G>A p.E574K missense 0.00000831
196. 78408258 c.1772C>T p.T591I missense 0.00000831
197. 78395146 c.1010T>C p.I337T missense 0.00000831
198. 78383335 c.112A>C p.M38L missense 0.00000830
199. 78383308 c.85G>T p.G29C missense 0.00000830
200. 78383321 c.98A>G p.D33G missense 0.00000830
201. 78392225 c.616G>C p.E206Q missense 0.00000830
202. 78392413 c.700G>C p.E234Q missense 0.00000830
203. 78392196 c.587G>A p.R196H missense 0.00000830
204. 78383333 c.110C>T p.A37V missense 0.00000830
205. 78392282 c.673C>T p.L225F missense 0.00000829
206. 78392291 c.682G>A p.V228I missense 0.00000829
207. 78383680 c.255T>G p.D85E missense 0.00000829
208. 78383942 c.431C>G p.A144G missense 0.00000829
209. 78383697 c.272A>G p.E91G missense 0.00000829
210. 78392249 c.640G>C p.E214Q missense 0.00000829
211. 78383956 c.445C>G p.Q149E missense 0.00000829
212. 78383721 c.296C>T p.T99I missense 0.00000829
213. 78383669 c.244G>C p.D82H missense 0.00000829
214. 78392242 c.633A>T p.R211S missense 0.00000829
215. 78392256 c.647G>A p.R216Q missense 0.00000829
216. 78383840 c.329A>G p.E110G missense 0.00000828
217. 78383885 c.374G>A p.R125Q missense 0.00000828
218. 78383902 c.391C>G p.Q131E missense 0.00000828
219. 78383856 c.345G>T p.E115D missense 0.00000828

* 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.