NEXN non-truncating variants in ExAC

NEXN gene summary
NEXN variants in DCM, HCM

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