NEXN missense variants in ExAC

NEXN gene summary
NEXN variants in DCM, HCM

The table below lists the NEXN missense variants found in the ExAC population database. 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. 78392446 c.733G>A p.G245R missense 0.18458650●●●●●●
2. 78395131 c.995A>C p.E332A missense 0.00400027●●●●●●
3. 78401664 c.1408G>C p.E470Q missense 0.00083393●●●●●●
4. 78392121 c.512T>C p.I171T missense 0.00068370●●●●●●
5. 78392548 c.835C>T p.R279C missense 0.00059451●●●●●●
6. 78407852 c.1618A>G p.M540V missense 0.00042530●●●●●●
7. 78407816 c.1582G>C p.E528Q missense 0.00026781●●●●●●
8. 78395085 c.949A>C p.M317L missense 0.00025826●●●●●●
9. 78408274 c.1788T>G p.S596R missense 0.00025751●●●●●●
10. 78392222 c.613G>A p.E205K missense 0.00019083●●●●●●
11. 78395164 c.1028C>T p.A343V missense 0.00016582●●●●●●
12. 78395104 c.968A>G p.E323G missense 0.00015027●●●●●●
13. 78392569 c.856C>T p.R286W missense 0.00010075●●●●●●
14. 78408441 c.1955A>G p.Y652C missense 0.00010010●●●●●●
15. 78401691 c.1435C>T p.L479F missense 0.00010001●●●●●●
16. 78395029 c.893C>G p.T298R missense 0.00009984●●●●●●
17. 78395053 c.917G>A p.R306H missense 0.00008319●●●●●●
18. 78392195 c.586C>T p.R196C missense 0.00008306●●●●●●
19. 78392243 c.634T>A p.Y212N missense 0.00006634●●●●●●
20. 78399025 c.1112C>T p.P371L missense 0.00006133●●●●●●
21. 78399103 c.1190G>A p.R397Q missense 0.00005976●●●●●●
22. 78383398 c.175G>A p.E59K missense 0.00005843●●●●●●
23. 78401709 c.1453G>A p.E485K missense 0.00005008●●●●●●
24. 78407874 c.1640T>C p.I547T missense 0.00005007●●●●●●
25. 78392225 c.616G>A p.E206K missense 0.00004977●●●●●●
26. 78383875 c.364G>C p.E122Q missense 0.00004969●●●●●●
27. 78407718 c.1484T>C p.V495A missense 0.00003903●●●●●●
28. 78407723 c.1489G>A p.V497I missense 0.00003831●●●●●●
29. 78390892 c.467C>T p.T156M missense 0.00003344●●●●●●
30. 78408444 c.1958T>C p.M653T missense 0.00003338●●●●●●
31. 78407870 c.1636G>C p.E546Q missense 0.00003337●●●●●●
32. 78401671 c.1415C>G p.A472G missense 0.00003335●●●●●●
33. 78401686 c.1430T>C p.I477T missense 0.00003334●●●●●●
34. 78383380 c.157G>A p.E53K missense 0.00003331●●●●●●
35. 78383891 c.380G>A p.R127H missense 0.00003313●●●●●●
36. 78383903 c.392A>G p.Q131R missense 0.00003313●●●●●●
37. 78383890 c.379C>T p.R127C missense 0.00003313●●●●●●
38. 78383873 c.362C>T p.T121M missense 0.00003313●●●●●●
39. 78399001 c.1088C>G p.T363R missense 0.00002723●●●●●●
40. 78408483 c.1997C>A p.T666N missense 0.00002539●●●●●●
41. 78401727 c.1471G>C p.E491Q missense 0.00002524●●●●●●
42. 78401572 c.1316G>A p.R439K missense 0.00002514●●●●●●
43. 78392548 c.835C>A p.R279S missense 0.00002512●●●●●●
44. 78392531 c.818G>A p.R273H missense 0.00002508●●●●●●
45. 78407849 c.1615C>T p.R539C missense 0.00002502●●●●●●
46. 78407859 c.1625T>G p.F542C missense 0.00002502●●●●●●
47. 78392496 c.783C>G p.N261K missense 0.00002501●●●●●●
48. 78408378 c.1892T>C p.I631T missense 0.00002499●●●●●●
49. 78408380 c.1894G>C p.E632Q missense 0.00002499●●●●●●
50. 78395038 c.902T>A p.I301N missense 0.00002495●●●●●●
51. 78383294 c.71C>T p.P24L missense 0.00002493●●●●●●
52. 78383329 c.106G>A p.E36K missense 0.00002490●●●●●●
53. 78392229 c.620A>G p.D207G missense 0.00002489●●●●●●
54. 78383667 c.242A>T p.D81V missense 0.00002487●●●●●●
55. 78395187 c.1051A>G p.M351V missense 0.00002487●●●●●●
56. 78383927 c.416T>C p.I139T missense 0.00002485●●●●●●
57. 78383881 c.370G>A p.E124K missense 0.00002484●●●●●●
58. 78398983 c.1070C>T p.S357F missense 0.00001946●●●●●●
59. 78408505 c.2019T>A p.S673R missense 0.00001797●●●●●●
60. 78408498 c.2012T>C p.I671T missense 0.00001744●●●●●●
61. 78399139 c.1226A>C p.E409A missense 0.00001742●●●●●●
62. 78399136 c.1223T>G p.F408C missense 0.00001735●●●●●●
63. 78407762 c.1528A>G p.K510E missense 0.00001718●●●●●●
64. 78407763 c.1529A>G p.K510R missense 0.00001716●●●●●●
65. 78401516 c.1260A>T p.E420D missense 0.00001709●●●●●●
66. 78399099 c.1186G>A p.E396K missense 0.00001705●●●●●●
67. 78408482 c.1996A>G p.T666A missense 0.00001692●●●●●●
68. 78392561 c.848A>T p.E283V missense 0.00001677●●●●●●
69. 78392549 c.836G>A p.R279H missense 0.00001675●●●●●●
70. 78407886 c.1652T>C p.L551P missense 0.00001671●●●●●●
71. 78407829 c.1595T>C p.I532T missense 0.00001670●●●●●●
72. 78408443 c.1957A>G p.M653V missense 0.00001669●●●●●●
73. 78401701 c.1445A>G p.K482R missense 0.00001668●●●●●●
74. 78408375 c.1889A>G p.Y630C missense 0.00001666●●●●●●
75. 78408384 c.1898G>C p.R633T missense 0.00001666●●●●●●
76. 78383387 c.164A>G p.Q55R missense 0.00001666●●●●●●
77. 78395052 c.916C>A p.R306S missense 0.00001664●●●●●●
78. 78408345 c.1859A>G p.E620G missense 0.00001664●●●●●●
79. 78408341 c.1855G>A p.G619R missense 0.00001664●●●●●●
80. 78392161 c.552A>C p.K184N missense 0.00001663●●●●●●
81. 78395047 c.911G>T p.G304V missense 0.00001663●●●●●●
82. 78395042 c.906T>A p.F302L missense 0.00001663●●●●●●
83. 78408291 c.1805C>T p.T602M missense 0.00001662●●●●●●
84. 78408219 c.1733G>C p.R578T missense 0.00001662●●●●●●
85. 78408257 c.1771A>G p.T591A missense 0.00001662●●●●●●
86. 78392441 c.728C>G p.S243C missense 0.00001661●●●●●●
87. 78408264 c.1778T>C p.V593A missense 0.00001661●●●●●●
88. 78392289 c.680T>C p.L227S missense 0.00001658●●●●●●
89. 78383672 c.247G>A p.E83K missense 0.00001658●●●●●●
90. 78395166 c.1030T>C p.F344L missense 0.00001658●●●●●●
91. 78383675 c.250G>A p.E84K missense 0.00001658●●●●●●
92. 78383933 c.422G>A p.R141H missense 0.00001657●●●●●●
93. 78383821 c.310G>A p.G104S missense 0.00001657●●●●●●
94. 78383825 c.314G>C p.R105T missense 0.00001657●●●●●●
95. 78407715 c.1481A>T p.D494V missense 0.00000987●●●●●●
96. 78407717 c.1483G>A p.V495I missense 0.00000980●●●●●●
97. 78407718 c.1484T>A p.V495D missense 0.00000976●●●●●●
98. 78381792 c.1A>C p.Met1? missense 0.00000967●●●●●●
99. 78398986 c.1073C>T p.P358L missense 0.00000955●●●●●●
100. 78398997 c.1084A>C p.K362Q missense 0.00000916●●●●●●
101. 78399153 c.1240G>C p.E414Q missense 0.00000897●●●●●●
102. 78399007 c.1094C>G p.S365C missense 0.00000896●●●●●●
103. 78407744 c.1510G>A p.E504K missense 0.00000889●●●●●●
104. 78399012 c.1099G>A p.E367K missense 0.00000887●●●●●●
105. 78407745 c.1511A>G p.E504G missense 0.00000886●●●●●●
106. 78399147 c.1234A>G p.R412G missense 0.00000880●●●●●●
107. 78399140 c.1227A>T p.E409D missense 0.00000873●●●●●●
108. 78399030 c.1117A>C p.K373Q missense 0.00000873●●●●●●
109. 78399138 c.1225G>C p.E409Q missense 0.00000871●●●●●●
110. 78399131 c.1218A>C p.Q406H missense 0.00000863●●●●●●
111. 78408491 c.2005C>T p.L669F missense 0.00000856●●●●●●
112. 78399076 c.1163A>G p.E388G missense 0.00000855●●●●●●
113. 78399113 c.1200G>C p.K400N missense 0.00000855●●●●●●
114. 78399108 c.1195C>A p.H399N missense 0.00000854●●●●●●
115. 78399085 c.1172G>A p.R391Q missense 0.00000854●●●●●●
116. 78408488 c.2002A>G p.I668V missense 0.00000854●●●●●●
117. 78399102 c.1189C>T p.R397W missense 0.00000853●●●●●●
118. 78407769 c.1535A>G p.N512S missense 0.00000853●●●●●●
119. 78399098 c.1185G>T p.E395D missense 0.00000853●●●●●●
120. 78401527 c.1271C>T p.T424I missense 0.00000849●●●●●●
121. 78408480 c.1994G>A p.S665N missense 0.00000844●●●●●●
122. 78408480 c.1994G>T p.S665I missense 0.00000844●●●●●●
123. 78407787 c.1553A>T p.E518V missense 0.00000843●●●●●●
124. 78401545 c.1289A>C p.E430A missense 0.00000842●●●●●●
125. 78401725 c.1469A>G p.H490R missense 0.00000841●●●●●●
126. 78392577 c.864G>T p.M288I missense 0.00000841●●●●●●
127. 78401550 c.1294G>A p.E432K missense 0.00000841●●●●●●
128. 78401557 c.1301T>G p.L434R missense 0.00000840●●●●●●
129. 78401575 c.1319G>A p.S440N missense 0.00000838●●●●●●
130. 78392552 c.839C>G p.A280G missense 0.00000838●●●●●●
131. 78407816 c.1582G>A p.E528K missense 0.00000837●●●●●●
132. 78407893 c.1659G>C p.K553N missense 0.00000836●●●●●●
133. 78390909 c.484T>A p.S162T missense 0.00000836●●●●●●
134. 78408164 c.1678G>A p.E560K missense 0.00000836●●●●●●
135. 78392522 c.809C>T p.A270V missense 0.00000836●●●●●●
136. 78407819 c.1585C>A p.Q529K missense 0.00000836●●●●●●
137. 78401611 c.1355T>C p.F452S missense 0.00000836●●●●●●
138. 78392108 c.499G>A p.D167N missense 0.00000836●●●●●●
139. 78407826 c.1592G>A p.R531K missense 0.00000836●●●●●●
140. 78401631 c.1375T>C p.S459P missense 0.00000836●●●●●●
141. 78401622 c.1366G>A p.G456R missense 0.00000836●●●●●●
142. 78390900 c.475G>C p.E159Q missense 0.00000836●●●●●●
143. 78401641 c.1385A>T p.E462V missense 0.00000835●●●●●●
144. 78401713 c.1457C>T p.A486V missense 0.00000835●●●●●●
145. 78401644 c.1388T>C p.I463T missense 0.00000835●●●●●●
146. 78383398 c.175G>C p.E59Q missense 0.00000835●●●●●●
147. 78395115 c.979A>G p.R327G missense 0.00000835●●●●●●
148. 78383408 c.185T>A p.I62N missense 0.00000835●●●●●●
149. 78401656 c.1400T>C p.I467T missense 0.00000834●●●●●●
150. 78401668 c.1412G>A p.R471Q missense 0.00000834●●●●●●
151. 78392506 c.793C>A p.Q265K missense 0.00000834●●●●●●
152. 78407868 c.1634G>A p.R545K missense 0.00000834●●●●●●
153. 78407861 c.1627G>C p.E543Q missense 0.00000834●●●●●●
154. 78408429 c.1943A>G p.D648G missense 0.00000834●●●●●●
155. 78407850 c.1616G>A p.R539H missense 0.00000834●●●●●●
156. 78401668 c.1412G>T p.R471L missense 0.00000834●●●●●●
157. 78407861 c.1627G>A p.E543K missense 0.00000834●●●●●●
158. 78392498 c.785G>A p.R262Q missense 0.00000834●●●●●●
159. 78408408 c.1922T>C p.L641S missense 0.00000834●●●●●●
160. 78407855 c.1621C>A p.Q541K missense 0.00000834●●●●●●
161. 78401665 c.1409A>C p.E470A missense 0.00000834●●●●●●
162. 78407868 c.1634G>C p.R545T missense 0.00000834●●●●●●
163. 78408422 c.1936C>G p.P646A missense 0.00000834●●●●●●
164. 78392498 c.785G>T p.R262L missense 0.00000834●●●●●●
165. 78392120 c.511A>G p.I171V missense 0.00000834●●●●●●
166. 78395007 c.871G>A p.E291K missense 0.00000834●●●●●●
167. 78392126 c.517G>A p.V173M missense 0.00000833●●●●●●
168. 78408392 c.1906A>T p.T636S missense 0.00000833●●●●●●
169. 78395011 c.875A>G p.D292G missense 0.00000833●●●●●●
170. 78408180 c.1694T>C p.I565T missense 0.00000833●●●●●●
171. 78392129 c.520G>A p.V174I missense 0.00000833●●●●●●
172. 78383278 c.55C>T p.P19S missense 0.00000833●●●●●●
173. 78392480 c.767G>A p.R256Q missense 0.00000833●●●●●●
174. 78383276 c.53T>C p.V18A missense 0.00000833●●●●●●
175. 78408369 c.1883A>G p.Y628C missense 0.00000833●●●●●●
176. 78408384 c.1898G>A p.R633K missense 0.00000833●●●●●●
177. 78392466 c.753T>G p.F251L missense 0.00000832●●●●●●
178. 78395052 c.916C>T p.R306C missense 0.00000832●●●●●●
179. 78395056 c.920C>T p.P307L missense 0.00000832●●●●●●
180. 78395022 c.886C>G p.Q296E missense 0.00000832●●●●●●
181. 78408354 c.1868A>G p.Q623R missense 0.00000832●●●●●●
182. 78408204 c.1718A>C p.D573A missense 0.00000832●●●●●●
183. 78383374 c.151A>G p.R51G missense 0.00000832●●●●●●
184. 78392151 c.542C>T p.T181I missense 0.00000832●●●●●●
185. 78395050 c.914A>G p.Y305C missense 0.00000832●●●●●●
186. 78395055 c.919C>A p.P307T missense 0.00000832●●●●●●
187. 78395028 c.892A>G p.T298A missense 0.00000832●●●●●●
188. 78408289 c.1803T>A p.F601L missense 0.00000831●●●●●●
189. 78408209 c.1723G>A p.E575K missense 0.00000831●●●●●●
190. 78408258 c.1772C>T p.T591I missense 0.00000831●●●●●●
191. 78392195 c.586C>A p.R196S missense 0.00000831●●●●●●
192. 78392163 c.554T>C p.M185T missense 0.00000831●●●●●●
193. 78383348 c.125G>A p.R42K missense 0.00000831●●●●●●
194. 78408266 c.1780G>A p.V594I missense 0.00000831●●●●●●
195. 78408218 c.1732A>G p.R578G missense 0.00000831●●●●●●
196. 78408209 c.1723G>C p.E575Q missense 0.00000831●●●●●●
197. 78408315 c.1829A>G p.K610R missense 0.00000831●●●●●●
198. 78392166 c.557A>C p.K186T missense 0.00000831●●●●●●
199. 78408272 c.1786A>G p.S596G missense 0.00000831●●●●●●
200. 78408225 c.1739G>A p.G580E missense 0.00000831●●●●●●
201. 78408206 c.1720G>A p.E574K missense 0.00000831●●●●●●
202. 78392170 c.561G>T p.K187N missense 0.00000831●●●●●●
203. 78408231 c.1745C>T p.P582L missense 0.00000831●●●●●●
204. 78395146 c.1010T>C p.I337T missense 0.00000831●●●●●●
205. 78383335 c.112A>C p.M38L missense 0.00000830●●●●●●
206. 78383308 c.85G>T p.G29C missense 0.00000830●●●●●●
207. 78383321 c.98A>G p.D33G missense 0.00000830●●●●●●
208. 78392413 c.700G>C p.E234Q missense 0.00000830●●●●●●
209. 78392225 c.616G>C p.E206Q missense 0.00000830●●●●●●
210. 78383333 c.110C>T p.A37V missense 0.00000830●●●●●●
211. 78392196 c.587G>A p.R196H missense 0.00000830●●●●●●
212. 78392282 c.673C>T p.L225F missense 0.00000829●●●●●●
213. 78383669 c.244G>C p.D82H missense 0.00000829●●●●●●
214. 78383680 c.255T>G p.D85E missense 0.00000829●●●●●●
215. 78392291 c.682G>A p.V228I missense 0.00000829●●●●●●
216. 78383942 c.431C>G p.A144G missense 0.00000829●●●●●●
217. 78392249 c.640G>C p.E214Q missense 0.00000829●●●●●●
218. 78383697 c.272A>G p.E91G missense 0.00000829●●●●●●
219. 78383956 c.445C>G p.Q149E missense 0.00000829●●●●●●
220. 78392256 c.647G>A p.R216Q missense 0.00000829●●●●●●
221. 78383721 c.296C>T p.T99I missense 0.00000829●●●●●●
222. 78392242 c.633A>T p.R211S missense 0.00000829●●●●●●
223. 78383885 c.374G>A p.R125Q missense 0.00000828●●●●●●
224. 78383902 c.391C>G p.Q131E missense 0.00000828●●●●●●
225. 78383856 c.345G>T p.E115D missense 0.00000828●●●●●●
226. 78383840 c.329A>G p.E110G 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.