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. 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. 78395052 c.916C>A p.R306S missense 0.00001664●●●●●●
69. 78408345 c.1859A>G p.E620G missense 0.00001664●●●●●●
70. 78408341 c.1855G>A p.G619R missense 0.00001664●●●●●●
71. 78395047 c.911G>T p.G304V missense 0.00001663●●●●●●
72. 78392161 c.552A>C p.K184N missense 0.00001663●●●●●●
73. 78395042 c.906T>A p.F302L 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. 78392441 c.728C>G p.S243C missense 0.00001661●●●●●●
79. 78408264 c.1778T>C p.V593A 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. 78399113 c.1200G>C p.K400N missense 0.00000855●●●●●●
111. 78399076 c.1163A>G p.E388G missense 0.00000855●●●●●●
112. 78399084 c.1171C>T p.R391X nonsense 0.00000855●●●●●●
113. 78408488 c.2002A>G p.I668V missense 0.00000854●●●●●●
114. 78399085 c.1172G>A p.R391Q missense 0.00000854●●●●●●
115. 78399108 c.1195C>A p.H399N missense 0.00000854●●●●●●
116. 78399087 c.1174C>T p.R392X nonsense 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. 78401550 c.1294G>A p.E432K missense 0.00000841●●●●●●
127. 78401725 c.1469A>G p.H490R missense 0.00000841●●●●●●
128. 78392577 c.864G>T p.M288I missense 0.00000841●●●●●●
129. 78392578 c.864+1G>A essential splice site 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. 78401622 c.1366G>A p.G456R missense 0.00000836●●●●●●
136. 78407893 c.1659G>C p.K553N missense 0.00000836●●●●●●
137. 78408164 c.1678G>A p.E560K missense 0.00000836●●●●●●
138. 78401603 c.1347_1350delAAGC p.Lys451LeufsTer16 frameshift 0.00000836●●●●●●
139. 78390900 c.475G>C p.E159Q missense 0.00000836●●●●●●
140. 78383409 c.186_187insAG p.Trp67AsnfsTer25 frameshift 0.00000836●●●●●●
141. 78401631 c.1375T>C p.S459P missense 0.00000836●●●●●●
142. 78407819 c.1585C>A p.Q529K missense 0.00000836●●●●●●
143. 78390909 c.484T>A p.S162T missense 0.00000836●●●●●●
144. 78392522 c.809C>T p.A270V missense 0.00000836●●●●●●
145. 78392535 c.822_824delAGA p.Glu277del inframe 0.00000836●●●●●●
146. 78407822 c.1588_1589delAG p.Arg530LysfsTer3 frameshift 0.00000836●●●●●●
147. 78407826 c.1592G>A p.R531K missense 0.00000836●●●●●●
148. 78392108 c.499G>A p.D167N missense 0.00000836●●●●●●
149. 78401611 c.1355T>C p.F452S missense 0.00000836●●●●●●
150. 78383408 c.185T>A p.I62N missense 0.00000835●●●●●●
151. 78392512 c.799G>T p.E267X nonsense 0.00000835●●●●●●
152. 78401713 c.1457C>T p.A486V missense 0.00000835●●●●●●
153. 78401641 c.1385A>T p.E462V missense 0.00000835●●●●●●
154. 78395115 c.979A>G p.R327G missense 0.00000835●●●●●●
155. 78383398 c.175G>C p.E59Q missense 0.00000835●●●●●●
156. 78401644 c.1388T>C p.I463T missense 0.00000835●●●●●●
157. 78407843 c.1609_1610insA p.Leu537TyrfsTer7 frameshift 0.00000834●●●●●●
158. 78401668 c.1412G>T p.R471L missense 0.00000834●●●●●●
159. 78395007 c.871G>A p.E291K missense 0.00000834●●●●●●
160. 78407868 c.1634G>A p.R545K missense 0.00000834●●●●●●
161. 78392120 c.511A>G p.I171V missense 0.00000834●●●●●●
162. 78408429 c.1943A>G p.D648G missense 0.00000834●●●●●●
163. 78401665 c.1409A>C p.E470A missense 0.00000834●●●●●●
164. 78407861 c.1627G>C p.E543Q missense 0.00000834●●●●●●
165. 78407850 c.1616G>A p.R539H missense 0.00000834●●●●●●
166. 78407861 c.1627G>A p.E543K missense 0.00000834●●●●●●
167. 78408408 c.1922T>C p.L641S missense 0.00000834●●●●●●
168. 78392498 c.785G>T p.R262L missense 0.00000834●●●●●●
169. 78407855 c.1621C>A p.Q541K missense 0.00000834●●●●●●
170. 78392498 c.785G>A p.R262Q missense 0.00000834●●●●●●
171. 78401656 c.1400T>C p.I467T missense 0.00000834●●●●●●
172. 78401668 c.1412G>A p.R471Q missense 0.00000834●●●●●●
173. 78407868 c.1634G>C p.R545T missense 0.00000834●●●●●●
174. 78408422 c.1936C>G p.P646A missense 0.00000834●●●●●●
175. 78401706 c.1450C>T p.R484X nonsense 0.00000834●●●●●●
176. 78392506 c.793C>A p.Q265K 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. 78408392 c.1906_1909delACTT p.Tyr637AlafsTer48 frameshift 0.00000833●●●●●●
190. 78383276 c.53T>C p.V18A missense 0.00000833●●●●●●
191. 78392151 c.542C>T p.T181I missense 0.00000832●●●●●●
192. 78392466 c.753T>G p.F251L missense 0.00000832●●●●●●
193. 78395050 c.914A>G p.Y305C missense 0.00000832●●●●●●
194. 78395055 c.919C>A p.P307T missense 0.00000832●●●●●●
195. 78395052 c.916C>T p.R306C missense 0.00000832●●●●●●
196. 78395056 c.920C>T p.P307L missense 0.00000832●●●●●●
197. 78408354 c.1868A>G p.Q623R missense 0.00000832●●●●●●
198. 78408199 c.1713_1718delTGAAGA p.Asp573_Glu574del inframe 0.00000832●●●●●●
199. 78395022 c.886C>G p.Q296E missense 0.00000832●●●●●●
200. 78408204 c.1718A>C p.D573A missense 0.00000832●●●●●●
201. 78395028 c.892A>G p.T298A missense 0.00000832●●●●●●
202. 78383374 c.151A>G p.R51G missense 0.00000832●●●●●●
203. 78408225 c.1739G>A p.G580E missense 0.00000831●●●●●●
204. 78408206 c.1720G>A p.E574K missense 0.00000831●●●●●●
205. 78395146 c.1010T>C p.I337T missense 0.00000831●●●●●●
206. 78408289 c.1803T>A p.F601L missense 0.00000831●●●●●●
207. 78408258 c.1772C>T p.T591I missense 0.00000831●●●●●●
208. 78392170 c.561G>T p.K187N missense 0.00000831●●●●●●
209. 78408209 c.1723G>A p.E575K missense 0.00000831●●●●●●
210. 78408266 c.1780G>A p.V594I missense 0.00000831●●●●●●
211. 78392195 c.586C>A p.R196S missense 0.00000831●●●●●●
212. 78408218 c.1732A>G p.R578G missense 0.00000831●●●●●●
213. 78392163 c.554T>C p.M185T missense 0.00000831●●●●●●
214. 78408272 c.1786A>G p.S596G missense 0.00000831●●●●●●
215. 78383348 c.125G>A p.R42K missense 0.00000831●●●●●●
216. 78408315 c.1829A>G p.K610R missense 0.00000831●●●●●●
217. 78408209 c.1723G>C p.E575Q missense 0.00000831●●●●●●
218. 78408231 c.1745C>T p.P582L missense 0.00000831●●●●●●
219. 78392166 c.557A>C p.K186T missense 0.00000831●●●●●●
220. 78383333 c.110C>T p.A37V missense 0.00000830●●●●●●
221. 78392225 c.616G>C p.E206Q missense 0.00000830●●●●●●
222. 78392196 c.587G>A p.R196H missense 0.00000830●●●●●●
223. 78383308 c.85G>T p.G29C missense 0.00000830●●●●●●
224. 78383335 c.112A>C p.M38L missense 0.00000830●●●●●●
225. 78392413 c.700G>C p.E234Q missense 0.00000830●●●●●●
226. 78383321 c.98A>G p.D33G missense 0.00000830●●●●●●
227. 78392400 c.688-1G>C essential splice site 0.00000830●●●●●●
228. 78392221 c.612C>G p.Y204X nonsense 0.00000830●●●●●●
229. 78392249 c.640G>C p.E214Q missense 0.00000829●●●●●●
230. 78383721 c.296C>T p.T99I missense 0.00000829●●●●●●
231. 78383669 c.244G>C p.D82H missense 0.00000829●●●●●●
232. 78392291 c.682G>A p.V228I missense 0.00000829●●●●●●
233. 78392255 c.646C>T p.R216X nonsense 0.00000829●●●●●●
234. 78383680 c.255T>G p.D85E missense 0.00000829●●●●●●
235. 78392242 c.633A>T p.R211S missense 0.00000829●●●●●●
236. 78383724 c.298+1G>C essential splice site 0.00000829●●●●●●
237. 78392256 c.647G>A p.R216Q missense 0.00000829●●●●●●
238. 78383942 c.431C>G p.A144G missense 0.00000829●●●●●●
239. 78383697 c.272A>G p.E91G missense 0.00000829●●●●●●
240. 78392282 c.673C>T p.L225F missense 0.00000829●●●●●●
241. 78383956 c.445C>G p.Q149E missense 0.00000829●●●●●●
242. 78383902 c.391C>G p.Q131E missense 0.00000828●●●●●●
243. 78383840 c.329A>G p.E110G missense 0.00000828●●●●●●
244. 78383885 c.374G>A p.R125Q missense 0.00000828●●●●●●
245. 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.