NEXN protein-altering variants in ExAC


The table below lists the NEXN protein-altering 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. 78381792 c.1A>C p.Met1? missense 0.00000967
2. 78381796 c.5_7delATG p.N2_D3delinsN inframe 0.00002908
3. 78381815 c.24_27+1delTGAGG essential splice site 0.00001047
4. 78383249 c.28-2A>G essential splice site 0.00000850
5. 78383276 c.53T>C p.V18A missense 0.00000833
6. 78383278 c.55C>T p.P19S missense 0.00000833
7. 78383294 c.71C>T p.P24L missense 0.00002493
8. 78383308 c.85G>T p.G29C missense 0.00000830
9. 78383321 c.98A>G p.D33G missense 0.00000830
10. 78383329 c.106G>A p.E36K missense 0.00002490
11. 78383333 c.110C>T p.A37V missense 0.00000830
12. 78383335 c.112A>C p.M38L missense 0.00000830
13. 78383348 c.125G>A p.R42K missense 0.00000831
14. 78383374 c.151A>G p.R51G missense 0.00000832
15. 78383380 c.157G>A p.E53K missense 0.00003331
16. 78383387 c.164A>G p.Q55R missense 0.00001666
17. 78383387 c.164_167delAAAG p.Arg56GlufsTer34 frameshift 0.00000833
18. 78383398 c.175G>A p.E59K missense 0.00005843
19. 78383398 c.175G>C p.E59Q missense 0.00000835
20. 78383408 c.185T>A p.I62N missense 0.00000835
21. 78383409 c.186_187insAG p.Trp67AsnfsTer25 frameshift 0.00000836
22. 78383667 c.242A>T p.D81V missense 0.00002487
23. 78383669 c.244G>C p.D82H missense 0.00000829
24. 78383672 c.247G>A p.E83K missense 0.00001658
25. 78383675 c.250G>A p.E84K missense 0.00001658
26. 78383680 c.255T>G p.D85E missense 0.00000829
27. 78383697 c.272A>G p.E91G missense 0.00000829
28. 78383721 c.296C>T p.T99I missense 0.00000829
29. 78383724 c.298+1G>C essential splice site 0.00000829
30. 78383821 c.310G>A p.G104S missense 0.00001657
31. 78383825 c.314G>C p.R105T missense 0.00001657
32. 78383840 c.329A>G p.E110G missense 0.00000828
33. 78383856 c.345G>T p.E115D missense 0.00000828
34. 78383873 c.362C>T p.T121M missense 0.00003313
35. 78383875 c.364G>C p.E122Q missense 0.00004969
36. 78383881 c.370G>A p.E124K missense 0.00002484
37. 78383885 c.374G>A p.R125Q missense 0.00000828
38. 78383890 c.379C>T p.R127C missense 0.00003313
39. 78383891 c.380G>A p.R127H missense 0.00003313
40. 78383902 c.391C>G p.Q131E missense 0.00000828
41. 78383903 c.392A>G p.Q131R missense 0.00003313
42. 78383927 c.416T>C p.I139T missense 0.00002485
43. 78383933 c.422G>A p.R141H missense 0.00001657
44. 78383942 c.431C>G p.A144G missense 0.00000829
45. 78383956 c.445C>G p.Q149E missense 0.00000829
46. 78390892 c.467C>T p.T156M missense 0.00003344
47. 78390900 c.475G>C p.E159Q missense 0.00000836
48. 78390909 c.484T>A p.S162T missense 0.00000836
49. 78392108 c.499G>A p.D167N missense 0.00000836
50. 78392120 c.511A>G p.I171V missense 0.00000834
51. 78392126 c.517G>A p.V173M missense 0.00000833
52. 78392129 c.520G>A p.V174I missense 0.00000833
53. 78392151 c.542C>T p.T181I missense 0.00000832
54. 78392161 c.552A>C p.K184N missense 0.00001663
55. 78392163 c.554T>C p.M185T missense 0.00000831
56. 78392166 c.557A>C p.K186T missense 0.00000831
57. 78392170 c.561G>T p.K187N missense 0.00000831
58. 78392195 c.586C>T p.R196C missense 0.00008306
59. 78392195 c.586C>A p.R196S missense 0.00000831
60. 78392196 c.587G>A p.R196H missense 0.00000830
61. 78392221 c.612C>G p.Y204X nonsense 0.00000830
62. 78392225 c.616G>A p.E206K missense 0.00004977
63. 78392225 c.616G>C p.E206Q missense 0.00000830
64. 78392229 c.620A>G p.D207G missense 0.00002489
65. 78392242 c.633A>T p.R211S missense 0.00000829
66. 78392243 c.634T>A p.Y212N missense 0.00006634
67. 78392249 c.640G>C p.E214Q missense 0.00000829
68. 78392255 c.646C>T p.R216X nonsense 0.00000829
69. 78392256 c.647G>A p.R216Q missense 0.00000829
70. 78392282 c.673C>T p.L225F missense 0.00000829
71. 78392289 c.680T>C p.L227S missense 0.00001658
72. 78392291 c.682G>A p.V228I missense 0.00000829
73. 78392400 c.688-1G>C essential splice site 0.00000830
74. 78392413 c.700G>C p.E234Q missense 0.00000830
75. 78392431 c.718delG p.Glu240AsnfsTer8 frameshift 0.00001660
76. 78392441 c.728C>G p.S243C missense 0.00001661
77. 78392466 c.753T>G p.F251L missense 0.00000832
78. 78392480 c.767G>A p.R256Q missense 0.00000833
79. 78392491 c.778_779insA p.Asn261LysfsTer7 frameshift 0.00000833
80. 78392496 c.783C>G p.N261K missense 0.00002501
81. 78392498 c.785G>A p.R262Q missense 0.00000834
82. 78392498 c.785G>T p.R262L missense 0.00000834
83. 78392506 c.793C>A p.Q265K missense 0.00000834
84. 78392512 c.799G>T p.E267X nonsense 0.00000835
85. 78392522 c.809C>T p.A270V missense 0.00000836
86. 78392531 c.818G>A p.R273H missense 0.00002508
87. 78392535 c.822_824delAGA p.Glu277del inframe 0.00000836
88. 78392548 c.835C>A p.R279S missense 0.00002512
89. 78392549 c.836G>A p.R279H missense 0.00001675
90. 78392552 c.839C>G p.A280G missense 0.00000838
91. 78392561 c.848A>T p.E283V missense 0.00001677
92. 78392577 c.864G>T p.M288I missense 0.00000841
93. 78392578 c.864+1G>A essential splice site 0.00000841
94. 78395007 c.871G>A p.E291K missense 0.00000834
95. 78395011 c.875A>G p.D292G missense 0.00000833
96. 78395022 c.886C>G p.Q296E missense 0.00000832
97. 78395028 c.892A>G p.T298A missense 0.00000832
98. 78395029 c.893C>G p.T298R missense 0.00009984
99. 78395038 c.902T>A p.I301N missense 0.00002495
100. 78395042 c.906T>A p.F302L missense 0.00001663
101. 78395047 c.911G>T p.G304V missense 0.00001663
102. 78395050 c.914A>G p.Y305C missense 0.00000832
103. 78395052 c.916C>A p.R306S missense 0.00001664
104. 78395052 c.916C>T p.R306C missense 0.00000832
105. 78395053 c.917G>A p.R306H missense 0.00008319
106. 78395055 c.919C>A p.P307T missense 0.00000832
107. 78395056 c.920C>T p.P307L missense 0.00000832
108. 78395115 c.979A>G p.R327G missense 0.00000835
109. 78395127 c.991G>T p.Glu331Ter nonsense 0.00001668
110. 78395146 c.1010T>C p.I337T missense 0.00000831
111. 78395166 c.1030T>C p.F344L missense 0.00001658
112. 78395187 c.1051A>G p.M351V missense 0.00002487
113. 78395190 c.1053+1G>A essential splice site 0.00001658
114. 78398983 c.1070C>T p.S357F missense 0.00001946
115. 78398986 c.1073C>T p.P358L missense 0.00000955
116. 78398997 c.1084A>C p.K362Q missense 0.00000916
117. 78399001 c.1088C>G p.T363R missense 0.00002723
118. 78399007 c.1094C>G p.S365C missense 0.00000896
119. 78399012 c.1099G>A p.E367K missense 0.00000887
120. 78399025 c.1112C>T p.P371L missense 0.00006133
121. 78399030 c.1117A>C p.K373Q missense 0.00000873
122. 78399075 c.1162G>T p.E388X nonsense 0.00000857
123. 78399076 c.1163A>G p.E388G missense 0.00000855
124. 78399084 c.1171C>T p.R391X nonsense 0.00000855
125. 78399085 c.1172G>A p.R391Q missense 0.00000854
126. 78399087 c.1174C>T p.R392X nonsense 0.00000854
127. 78399098 c.1185G>T p.E395D missense 0.00000853
128. 78399099 c.1186G>A p.E396K missense 0.00001705
129. 78399102 c.1189C>T p.R397W missense 0.00000853
130. 78399103 c.1190G>A p.R397Q missense 0.00005976
131. 78399108 c.1195C>A p.H399N missense 0.00000854
132. 78399113 c.1200G>C p.K400N missense 0.00000855
133. 78399130 c.1217_1219delAAG p.Glu407del inframe 0.00000862
134. 78399131 c.1218A>C p.Q406H missense 0.00000863
135. 78399136 c.1223T>G p.F408C missense 0.00001735
136. 78399138 c.1225G>C p.E409Q missense 0.00000871
137. 78399139 c.1226A>C p.E409A missense 0.00001742
138. 78399140 c.1227A>T p.E409D missense 0.00000873
139. 78399147 c.1234A>G p.R412G missense 0.00000880
140. 78399153 c.1240G>C p.E414Q missense 0.00000897
141. 78401516 c.1260A>T p.E420D missense 0.00001709
142. 78401527 c.1271C>T p.T424I missense 0.00000849
143. 78401545 c.1289A>C p.E430A missense 0.00000842
144. 78401550 c.1294G>A p.E432K missense 0.00000841
145. 78401557 c.1301T>G p.L434R missense 0.00000840
146. 78401558 c.1302delG p.Ile435SerfsTer3 frameshift 0.00006717
147. 78401572 c.1316G>A p.R439K missense 0.00002514
148. 78401575 c.1319G>A p.S440N missense 0.00000838
149. 78401603 c.1347_1350delAAGC p.Lys451LeufsTer16 frameshift 0.00000836
150. 78401611 c.1355T>C p.F452S missense 0.00000836
151. 78401622 c.1366G>A p.G456R missense 0.00000836
152. 78401631 c.1375T>C p.S459P missense 0.00000836
153. 78401641 c.1385A>T p.E462V missense 0.00000835
154. 78401644 c.1388T>C p.I463T missense 0.00000835
155. 78401656 c.1400T>C p.I467T missense 0.00000834
156. 78401665 c.1409A>C p.E470A missense 0.00000834
157. 78401667 c.1411C>T p.R471X nonsense 0.00002502
158. 78401668 c.1412G>A p.R471Q missense 0.00000834
159. 78401668 c.1412G>T p.R471L missense 0.00000834
160. 78401671 c.1415C>G p.A472G missense 0.00003335
161. 78401686 c.1430T>C p.I477T missense 0.00003334
162. 78401701 c.1445A>G p.K482R missense 0.00001668
163. 78401706 c.1450C>T p.R484X nonsense 0.00000834
164. 78401709 c.1453G>A p.E485K missense 0.00005008
165. 78401713 c.1457C>T p.A486V missense 0.00000835
166. 78401725 c.1469A>G p.H490R missense 0.00000841
167. 78401727 c.1471G>C p.E491Q missense 0.00002524
168. 78407715 c.1481A>T p.D494V missense 0.00000987
169. 78407717 c.1483G>A p.V495I missense 0.00000980
170. 78407718 c.1484T>C p.V495A missense 0.00003903
171. 78407718 c.1484T>A p.V495D missense 0.00000976
172. 78407723 c.1489G>A p.V497I missense 0.00003831
173. 78407744 c.1510G>A p.E504K missense 0.00000889
174. 78407745 c.1511A>G p.E504G missense 0.00000886
175. 78407762 c.1528A>G p.K510E missense 0.00001718
176. 78407763 c.1529A>G p.K510R missense 0.00001716
177. 78407769 c.1535A>G p.N512S missense 0.00000853
178. 78407787 c.1553A>T p.E518V missense 0.00000843
179. 78407806 c.1572_1574dupAGA p.Glu525dup inframe 0.00000839
180. 78407816 c.1582G>A p.E528K missense 0.00000837
181. 78407819 c.1585C>A p.Q529K missense 0.00000836
182. 78407822 c.1588_1589delAG p.Arg530LysfsTer3 frameshift 0.00000836
183. 78407826 c.1592G>A p.R531K missense 0.00000836
184. 78407829 c.1595T>C p.I532T missense 0.00001670
185. 78407843 c.1609_1610insA p.Leu537TyrfsTer7 frameshift 0.00000834
186. 78407849 c.1615C>T p.R539C missense 0.00002502
187. 78407850 c.1616G>A p.R539H missense 0.00000834
188. 78407855 c.1621C>A p.Q541K missense 0.00000834
189. 78407859 c.1625T>G p.F542C missense 0.00002502
190. 78407861 c.1627G>C p.E543Q missense 0.00000834
191. 78407861 c.1627G>A p.E543K missense 0.00000834
192. 78407868 c.1634G>C p.R545T missense 0.00000834
193. 78407868 c.1634G>A p.R545K missense 0.00000834
194. 78407870 c.1636G>C p.E546Q missense 0.00003337
195. 78407874 c.1640T>C p.I547T missense 0.00005007
196. 78407886 c.1652T>C p.L551P missense 0.00001671
197. 78407893 c.1659G>C p.K553N missense 0.00000836
198. 78408155 c.1669_1671delGAG p.Glu560del inframe 0.00001678
199. 78408164 c.1678G>A p.E560K missense 0.00000836
200. 78408180 c.1694T>C p.I565T missense 0.00000833
201. 78408199 c.1713_1718delTGAAGA p.Asp573_Glu574del inframe 0.00000832
202. 78408204 c.1718A>C p.D573A missense 0.00000832
203. 78408206 c.1720G>A p.E574K missense 0.00000831
204. 78408209 c.1723G>C p.E575Q missense 0.00000831
205. 78408209 c.1723G>A p.E575K missense 0.00000831
206. 78408218 c.1732A>G p.R578G missense 0.00000831
207. 78408219 c.1733G>C p.R578T missense 0.00001662
208. 78408225 c.1739G>A p.G580E missense 0.00000831
209. 78408231 c.1745C>T p.P582L missense 0.00000831
210. 78408239 c.1753_1755delAAG p.Lys585del inframe 0.00001662
211. 78408257 c.1771A>G p.T591A missense 0.00001662
212. 78408258 c.1772C>T p.T591I missense 0.00000831
213. 78408264 c.1778T>C p.V593A missense 0.00001661
214. 78408266 c.1780G>A p.V594I missense 0.00000831
215. 78408272 c.1786A>G p.S596G missense 0.00000831
216. 78408289 c.1803T>A p.F601L missense 0.00000831
217. 78408291 c.1805C>T p.T602M missense 0.00001662
218. 78408304 c.1818_1820delAGG p.Gly607del inframe 0.00002494
219. 78408315 c.1829A>G p.K610R missense 0.00000831
220. 78408341 c.1855G>A p.G619R missense 0.00001664
221. 78408345 c.1859A>G p.E620G missense 0.00001664
222. 78408354 c.1868A>G p.Q623R missense 0.00000832
223. 78408369 c.1883A>G p.Y628C missense 0.00000833
224. 78408375 c.1889A>G p.Y630C missense 0.00001666
225. 78408375 c.1889delA p.Tyr630LeufsTer56 frameshift 0.00000833
226. 78408378 c.1892T>C p.I631T missense 0.00002499
227. 78408380 c.1894G>C p.E632Q missense 0.00002499
228. 78408384 c.1898G>C p.R633T missense 0.00001666
229. 78408384 c.1898G>A p.R633K missense 0.00000833
230. 78408392 c.1906A>T p.T636S missense 0.00000833
231. 78408392 c.1906_1909delACTT p.Tyr637AlafsTer48 frameshift 0.00000833
232. 78408408 c.1922T>C p.L641S missense 0.00000834
233. 78408422 c.1936C>G p.P646A missense 0.00000834
234. 78408429 c.1943A>G p.D648G missense 0.00000834
235. 78408443 c.1957A>G p.M653V missense 0.00001669
236. 78408444 c.1958T>C p.M653T missense 0.00003338
237. 78408480 c.1994G>A p.S665N missense 0.00000844
238. 78408480 c.1994G>T p.S665I missense 0.00000844
239. 78408482 c.1996A>G p.T666A missense 0.00001692
240. 78408483 c.1997C>A p.T666N missense 0.00002539
241. 78408488 c.2002A>G p.I668V missense 0.00000854
242. 78408491 c.2005C>T p.L669F missense 0.00000856
243. 78408498 c.2012T>C p.I671T missense 0.00001744
244. 78408505 c.2019T>A p.S673R missense 0.00001797
245. 78408509 c.2023_2026delAATT p.X676HisfsX9 frameshift 0.00000909

* 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.