NEXN protein-altering variants in ExAC

NEXN gene summary
NEXN variants in DCM, HCM

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

* 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.