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