NEXN variants in ExAC

NEXN gene summary
NEXN variants in DCM, HCM

The table below lists the NEXN 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. 78381792 c.1A>C p.Met1? missense 0.00000967●●●●●●
2. 78381796 c.5_7delATG p.N2_D3delinsN inframe 0.00002908●●●●●●
3. 78381815 c.24_27+1delTGAGG essential splice site 0.00001047●●●●●●
4. 78383249 c.28-2A>G essential splice site 0.00000850●●●●●●
5. 78383276 c.53T>C p.V18A missense 0.00000833●●●●●●
6. 78383278 c.55C>T p.P19S missense 0.00000833●●●●●●
7. 78383294 c.71C>T p.P24L missense 0.00002493●●●●●●
8. 78383308 c.85G>T p.G29C missense 0.00000830●●●●●●
9. 78383321 c.98A>G p.D33G missense 0.00000830●●●●●●
10. 78383329 c.106G>A p.E36K missense 0.00002490●●●●●●
11. 78383333 c.110C>T p.A37V missense 0.00000830●●●●●●
12. 78383335 c.112A>C p.M38L missense 0.00000830●●●●●●
13. 78383348 c.125G>A p.R42K missense 0.00000831●●●●●●
14. 78383374 c.151A>G p.R51G missense 0.00000832●●●●●●
15. 78383380 c.157G>A p.E53K missense 0.00003331●●●●●●
16. 78383387 c.164A>G p.Q55R missense 0.00001666●●●●●●
17. 78383387 c.164_167delAAAG p.Arg56GlufsTer34 frameshift 0.00000833●●●●●●
18. 78383398 c.175G>A p.E59K missense 0.00005843●●●●●●
19. 78383398 c.175G>C p.E59Q missense 0.00000835●●●●●●
20. 78383408 c.185T>A p.I62N missense 0.00000835●●●●●●
21. 78383409 c.186_187insAG p.Trp67AsnfsTer25 frameshift 0.00000836●●●●●●
22. 78383637 c.220-8delC splice site 0.00002488●●●●●●
23. 78383637 c.220-8C>G splice site 0.00000829●●●●●●
24. 78383647 c.222T>C splice site 0.00001658●●●●●●
25. 78383667 c.242A>T p.D81V missense 0.00002487●●●●●●
26. 78383669 c.244G>C p.D82H missense 0.00000829●●●●●●
27. 78383672 c.247G>A p.E83K missense 0.00001658●●●●●●
28. 78383675 c.250G>A p.E84K missense 0.00001658●●●●●●
29. 78383680 c.255T>G p.D85E missense 0.00000829●●●●●●
30. 78383697 c.272A>G p.E91G missense 0.00000829●●●●●●
31. 78383721 c.296C>T p.T99I missense 0.00000829●●●●●●
32. 78383724 c.298+1G>C essential splice site 0.00000829●●●●●●
33. 78383732 c.298+9C>T splice site 0.00000829●●●●●●
34. 78383807 c.299-3T>C splice site 0.00001658●●●●●●
35. 78383821 c.310G>A p.G104S missense 0.00001657●●●●●●
36. 78383825 c.314G>C p.R105T missense 0.00001657●●●●●●
37. 78383840 c.329A>G p.E110G missense 0.00000828●●●●●●
38. 78383856 c.345G>T p.E115D missense 0.00000828●●●●●●
39. 78383873 c.362C>T p.T121M missense 0.00003313●●●●●●
40. 78383875 c.364G>C p.E122Q missense 0.00004969●●●●●●
41. 78383881 c.370G>A p.E124K missense 0.00002484●●●●●●
42. 78383885 c.374G>A p.R125Q missense 0.00000828●●●●●●
43. 78383890 c.379C>T p.R127C missense 0.00003313●●●●●●
44. 78383891 c.380G>A p.R127H missense 0.00003313●●●●●●
45. 78383902 c.391C>G p.Q131E missense 0.00000828●●●●●●
46. 78383903 c.392A>G p.Q131R missense 0.00003313●●●●●●
47. 78383927 c.416T>C p.I139T missense 0.00002485●●●●●●
48. 78383933 c.422G>A p.R141H missense 0.00001657●●●●●●
49. 78383942 c.431C>G p.A144G missense 0.00000829●●●●●●
50. 78383956 c.445C>G p.Q149E missense 0.00000829●●●●●●
51. 78390892 c.467C>T p.T156M missense 0.00003344●●●●●●
52. 78390900 c.475G>C p.E159Q missense 0.00000836●●●●●●
53. 78390909 c.484T>A p.S162T missense 0.00000836●●●●●●
54. 78392108 c.499G>A p.D167N missense 0.00000836●●●●●●
55. 78392120 c.511A>G p.I171V missense 0.00000834●●●●●●
56. 78392121 c.512T>C p.I171T missense 0.00068370●●●●●●
57. 78392126 c.517G>A p.V173M missense 0.00000833●●●●●●
58. 78392129 c.520G>A p.V174I missense 0.00000833●●●●●●
59. 78392151 c.542C>T p.T181I missense 0.00000832●●●●●●
60. 78392161 c.552A>C p.K184N missense 0.00001663●●●●●●
61. 78392163 c.554T>C p.M185T missense 0.00000831●●●●●●
62. 78392166 c.557A>C p.K186T missense 0.00000831●●●●●●
63. 78392170 c.561G>T p.K187N missense 0.00000831●●●●●●
64. 78392195 c.586C>T p.R196C missense 0.00008306●●●●●●
65. 78392195 c.586C>A p.R196S missense 0.00000831●●●●●●
66. 78392196 c.587G>A p.R196H missense 0.00000830●●●●●●
67. 78392221 c.612C>G p.Y204X nonsense 0.00000830●●●●●●
68. 78392222 c.613G>A p.E205K missense 0.00019083●●●●●●
69. 78392225 c.616G>A p.E206K missense 0.00004977●●●●●●
70. 78392225 c.616G>C p.E206Q missense 0.00000830●●●●●●
71. 78392229 c.620A>G p.D207G missense 0.00002489●●●●●●
72. 78392242 c.633A>T p.R211S missense 0.00000829●●●●●●
73. 78392243 c.634T>A p.Y212N missense 0.00006634●●●●●●
74. 78392249 c.640G>C p.E214Q missense 0.00000829●●●●●●
75. 78392255 c.646C>T p.R216X nonsense 0.00000829●●●●●●
76. 78392256 c.647G>A p.R216Q missense 0.00000829●●●●●●
77. 78392282 c.673C>T p.L225F missense 0.00000829●●●●●●
78. 78392289 c.680T>C p.L227S missense 0.00001658●●●●●●
79. 78392291 c.682G>A p.V228I missense 0.00000829●●●●●●
80. 78392300 c.687+4A>T splice site 0.00009123●●●●●●
81. 78392300 c.687+4A>C splice site 0.00000829●●●●●●
82. 78392302 c.687+6T>A splice site 0.00000829●●●●●●
83. 78392304 c.687+8_687+11delTTTG splice site 0.00007465●●●●●●
84. 78392391 c.688-10G>A splice site 0.00003320●●●●●●
85. 78392400 c.688-1G>C essential splice site 0.00000830●●●●●●
86. 78392413 c.700G>C p.E234Q missense 0.00000830●●●●●●
87. 78392431 c.718delG p.Glu240AsnfsTer8 frameshift 0.00001660●●●●●●
88. 78392441 c.728C>G p.S243C missense 0.00001661●●●●●●
89. 78392446 c.733G>A p.G245R missense 0.18458650●●●●●●
90. 78392466 c.753T>G p.F251L missense 0.00000832●●●●●●
91. 78392480 c.767G>A p.R256Q missense 0.00000833●●●●●●
92. 78392491 c.778_779insA p.Asn261LysfsTer7 frameshift 0.00000833●●●●●●
93. 78392496 c.783C>G p.N261K missense 0.00002501●●●●●●
94. 78392498 c.785G>A p.R262Q missense 0.00000834●●●●●●
95. 78392498 c.785G>T p.R262L missense 0.00000834●●●●●●
96. 78392506 c.793C>A p.Q265K missense 0.00000834●●●●●●
97. 78392512 c.799G>T p.E267X nonsense 0.00000835●●●●●●
98. 78392522 c.809C>T p.A270V missense 0.00000836●●●●●●
99. 78392531 c.818G>A p.R273H missense 0.00002508●●●●●●
100. 78392535 c.822_824delAGA p.Glu277del inframe 0.00000836●●●●●●
101. 78392548 c.835C>T p.R279C missense 0.00059451●●●●●●
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. 78392561 c.848A>T p.E283V missense 0.00001677●●●●●●
106. 78392569 c.856C>T p.R286W missense 0.00010075●●●●●●
107. 78392577 c.864G>T p.M288I missense 0.00000841●●●●●●
108. 78392578 c.864+1G>A essential splice site 0.00000841●●●●●●
109. 78394992 c.865-9T>C splice site 0.00002515●●●●●●
110. 78394996 c.865-5G>A splice site 0.00009207●●●●●●
111. 78394997 c.865-4T>C splice site 0.00000837●●●●●●
112. 78395007 c.871G>A p.E291K missense 0.00000834●●●●●●
113. 78395011 c.875A>G p.D292G missense 0.00000833●●●●●●
114. 78395022 c.886C>G p.Q296E missense 0.00000832●●●●●●
115. 78395028 c.892A>G p.T298A missense 0.00000832●●●●●●
116. 78395029 c.893C>G p.T298R missense 0.00009984●●●●●●
117. 78395038 c.902T>A p.I301N missense 0.00002495●●●●●●
118. 78395042 c.906T>A p.F302L missense 0.00001663●●●●●●
119. 78395047 c.911G>T p.G304V missense 0.00001663●●●●●●
120. 78395050 c.914A>G p.Y305C missense 0.00000832●●●●●●
121. 78395052 c.916C>A p.R306S missense 0.00001664●●●●●●
122. 78395052 c.916C>T p.R306C missense 0.00000832●●●●●●
123. 78395053 c.917G>A p.R306H missense 0.00008319●●●●●●
124. 78395055 c.919C>A p.P307T missense 0.00000832●●●●●●
125. 78395056 c.920C>T p.P307L missense 0.00000832●●●●●●
126. 78395085 c.949A>C p.M317L missense 0.00025826●●●●●●
127. 78395104 c.968A>G p.E323G missense 0.00015027●●●●●●
128. 78395115 c.979A>G p.R327G missense 0.00000835●●●●●●
129. 78395123 c.987_989delAGA p.Glu332del inframe 0.00012529●●●●●●
130. 78395127 c.991G>T p.Glu331Ter nonsense 0.00001668●●●●●●
131. 78395131 c.995A>C p.E332A missense 0.00400027●●●●●●
132. 78395146 c.1010T>C p.I337T missense 0.00000831●●●●●●
133. 78395164 c.1028C>T p.A343V missense 0.00016582●●●●●●
134. 78395166 c.1030T>C p.F344L missense 0.00001658●●●●●●
135. 78395187 c.1051A>G p.M351V missense 0.00002487●●●●●●
136. 78395190 c.1053+1G>A essential splice site 0.00001658●●●●●●
137. 78398983 c.1070C>T p.S357F missense 0.00001946●●●●●●
138. 78398986 c.1073C>T p.P358L missense 0.00000955●●●●●●
139. 78398997 c.1084A>C p.K362Q missense 0.00000916●●●●●●
140. 78399001 c.1088C>G p.T363R missense 0.00002723●●●●●●
141. 78399007 c.1094C>G p.S365C missense 0.00000896●●●●●●
142. 78399012 c.1099G>A p.E367K missense 0.00000887●●●●●●
143. 78399025 c.1112C>T p.P371L missense 0.00006133●●●●●●
144. 78399030 c.1117A>C p.K373Q missense 0.00000873●●●●●●
145. 78399075 c.1162G>T p.E388X nonsense 0.00000857●●●●●●
146. 78399076 c.1163A>G p.E388G missense 0.00000855●●●●●●
147. 78399084 c.1171C>T p.R391X nonsense 0.00000855●●●●●●
148. 78399085 c.1172G>A p.R391Q missense 0.00000854●●●●●●
149. 78399087 c.1174C>T p.R392X nonsense 0.00000854●●●●●●
150. 78399098 c.1185G>T p.E395D missense 0.00000853●●●●●●
151. 78399099 c.1186G>A p.E396K missense 0.00001705●●●●●●
152. 78399102 c.1189C>T p.R397W missense 0.00000853●●●●●●
153. 78399103 c.1190G>A p.R397Q missense 0.00005976●●●●●●
154. 78399108 c.1195C>A p.H399N missense 0.00000854●●●●●●
155. 78399113 c.1200G>C p.K400N missense 0.00000855●●●●●●
156. 78399130 c.1217_1219delAAG p.Glu407del inframe 0.00000862●●●●●●
157. 78399131 c.1218A>C p.Q406H missense 0.00000863●●●●●●
158. 78399136 c.1223T>G p.F408C missense 0.00001735●●●●●●
159. 78399138 c.1225G>C p.E409Q missense 0.00000871●●●●●●
160. 78399139 c.1226A>C p.E409A missense 0.00001742●●●●●●
161. 78399140 c.1227A>T p.E409D missense 0.00000873●●●●●●
162. 78399147 c.1234A>G p.R412G missense 0.00000880●●●●●●
163. 78399153 c.1240G>C p.E414Q missense 0.00000897●●●●●●
164. 78401498 c.1252-10T>G splice site 0.00025471●●●●●●
165. 78401516 c.1260A>T p.E420D missense 0.00001709●●●●●●
166. 78401527 c.1271C>T p.T424I missense 0.00000849●●●●●●
167. 78401545 c.1289A>C p.E430A missense 0.00000842●●●●●●
168. 78401550 c.1294G>A p.E432K missense 0.00000841●●●●●●
169. 78401557 c.1301T>G p.L434R missense 0.00000840●●●●●●
170. 78401558 c.1302delG p.Ile435SerfsTer3 frameshift 0.00006717●●●●●●
171. 78401572 c.1316G>A p.R439K missense 0.00002514●●●●●●
172. 78401575 c.1319G>A p.S440N missense 0.00000838●●●●●●
173. 78401603 c.1347_1350delAAGC p.Lys451LeufsTer16 frameshift 0.00000836●●●●●●
174. 78401611 c.1355T>C p.F452S missense 0.00000836●●●●●●
175. 78401622 c.1366G>A p.G456R missense 0.00000836●●●●●●
176. 78401631 c.1375T>C p.S459P missense 0.00000836●●●●●●
177. 78401641 c.1385A>T p.E462V missense 0.00000835●●●●●●
178. 78401644 c.1388T>C p.I463T missense 0.00000835●●●●●●
179. 78401656 c.1400T>C p.I467T missense 0.00000834●●●●●●
180. 78401657 c.1401_1403delAGA p.Glu470del inframe 0.00014183●●●●●●
181. 78401664 c.1408G>C p.E470Q missense 0.00083393●●●●●●
182. 78401665 c.1409A>C p.E470A missense 0.00000834●●●●●●
183. 78401667 c.1411C>T p.R471X nonsense 0.00002502●●●●●●
184. 78401668 c.1412G>A p.R471Q missense 0.00000834●●●●●●
185. 78401668 c.1412G>T p.R471L missense 0.00000834●●●●●●
186. 78401671 c.1415C>G p.A472G missense 0.00003335●●●●●●
187. 78401672 c.1416_1418delAAG p.A472_R473delinsA inframe 0.00018341●●●●●●
188. 78401686 c.1430T>C p.I477T missense 0.00003334●●●●●●
189. 78401691 c.1435C>T p.L479F missense 0.00010001●●●●●●
190. 78401701 c.1445A>G p.K482R missense 0.00001668●●●●●●
191. 78401706 c.1450C>T p.R484X nonsense 0.00000834●●●●●●
192. 78401709 c.1453G>A p.E485K missense 0.00005008●●●●●●
193. 78401713 c.1457C>T p.A486V missense 0.00000835●●●●●●
194. 78401725 c.1469A>G p.H490R missense 0.00000841●●●●●●
195. 78401727 c.1471G>C p.E491Q missense 0.00002524●●●●●●
196. 78401729 c.1473G>A splice site 0.00000843●●●●●●
197. 78407715 c.1481A>T p.D494V missense 0.00000987●●●●●●
198. 78407717 c.1483G>A p.V495I missense 0.00000980●●●●●●
199. 78407718 c.1484T>C p.V495A missense 0.00003903●●●●●●
200. 78407718 c.1484T>A p.V495D missense 0.00000976●●●●●●
201. 78407723 c.1489G>A p.V497I missense 0.00003831●●●●●●
202. 78407744 c.1510G>A p.E504K missense 0.00000889●●●●●●
203. 78407745 c.1511A>G p.E504G missense 0.00000886●●●●●●
204. 78407762 c.1528A>G p.K510E missense 0.00001718●●●●●●
205. 78407763 c.1529A>G p.K510R missense 0.00001716●●●●●●
206. 78407769 c.1535A>G p.N512S missense 0.00000853●●●●●●
207. 78407787 c.1553A>T p.E518V missense 0.00000843●●●●●●
208. 78407806 c.1572_1574delAGA p.R524_E525delinsR inframe 0.00021805●●●●●●
209. 78407806 c.1572_1574dupAGA p.Glu525dup inframe 0.00000839●●●●●●
210. 78407816 c.1582G>C p.E528Q missense 0.00026781●●●●●●
211. 78407816 c.1582G>A p.E528K missense 0.00000837●●●●●●
212. 78407819 c.1585C>A p.Q529K missense 0.00000836●●●●●●
213. 78407822 c.1588_1589delAG p.Arg530LysfsTer3 frameshift 0.00000836●●●●●●
214. 78407826 c.1592G>A p.R531K missense 0.00000836●●●●●●
215. 78407829 c.1595T>C p.I532T missense 0.00001670●●●●●●
216. 78407843 c.1609_1610insA p.Leu537TyrfsTer7 frameshift 0.00000834●●●●●●
217. 78407849 c.1615C>T p.R539C missense 0.00002502●●●●●●
218. 78407850 c.1616G>A p.R539H missense 0.00000834●●●●●●
219. 78407852 c.1618A>G p.M540V missense 0.00042530●●●●●●
220. 78407855 c.1621C>A p.Q541K missense 0.00000834●●●●●●
221. 78407859 c.1625T>G p.F542C missense 0.00002502●●●●●●
222. 78407861 c.1627G>C p.E543Q missense 0.00000834●●●●●●
223. 78407861 c.1627G>A p.E543K missense 0.00000834●●●●●●
224. 78407868 c.1634G>C p.R545T missense 0.00000834●●●●●●
225. 78407868 c.1634G>A p.R545K missense 0.00000834●●●●●●
226. 78407870 c.1636G>C p.E546Q missense 0.00003337●●●●●●
227. 78407874 c.1640T>C p.I547T missense 0.00005007●●●●●●
228. 78407886 c.1652T>C p.L551P missense 0.00001671●●●●●●
229. 78407893 c.1659G>C p.K553N missense 0.00000836●●●●●●
230. 78408148 c.1662A>G splice site 0.00001683●●●●●●
231. 78408155 c.1669_1674delGAGGAG p.Glu557_Glu558delinsdel inframe 0.00028527●●●●●●
232. 78408155 c.1669_1671delGAG p.Glu560del inframe 0.00001678●●●●●●
233. 78408164 c.1678G>A p.E560K missense 0.00000836●●●●●●
234. 78408180 c.1694T>C p.I565T missense 0.00000833●●●●●●
235. 78408199 c.1713_1718delTGAAGA p.Asp573_Glu574del inframe 0.00000832●●●●●●
236. 78408204 c.1718A>C p.D573A missense 0.00000832●●●●●●
237. 78408206 c.1720G>A p.E574K missense 0.00000831●●●●●●
238. 78408209 c.1723G>C p.E575Q missense 0.00000831●●●●●●
239. 78408209 c.1723G>A p.E575K missense 0.00000831●●●●●●
240. 78408218 c.1732A>G p.R578G missense 0.00000831●●●●●●
241. 78408219 c.1733G>C p.R578T missense 0.00001662●●●●●●
242. 78408225 c.1739G>A p.G580E missense 0.00000831●●●●●●
243. 78408231 c.1745C>T p.P582L missense 0.00000831●●●●●●
244. 78408239 c.1753_1755delAAG p.Lys585del inframe 0.00001662●●●●●●
245. 78408257 c.1771A>G p.T591A missense 0.00001662●●●●●●
246. 78408258 c.1772C>T p.T591I missense 0.00000831●●●●●●
247. 78408264 c.1778T>C p.V593A missense 0.00001661●●●●●●
248. 78408266 c.1780G>A p.V594I missense 0.00000831●●●●●●
249. 78408272 c.1786A>G p.S596G missense 0.00000831●●●●●●
250. 78408274 c.1788T>G p.S596R missense 0.00025751●●●●●●
251. 78408289 c.1803T>A p.F601L missense 0.00000831●●●●●●
252. 78408291 c.1805C>T p.T602M missense 0.00001662●●●●●●
253. 78408304 c.1818_1820delAGG p.Gly607del inframe 0.00002494●●●●●●
254. 78408315 c.1829A>G p.K610R missense 0.00000831●●●●●●
255. 78408341 c.1855G>A p.G619R missense 0.00001664●●●●●●
256. 78408345 c.1859A>G p.E620G missense 0.00001664●●●●●●
257. 78408354 c.1868A>G p.Q623R missense 0.00000832●●●●●●
258. 78408369 c.1883A>G p.Y628C missense 0.00000833●●●●●●
259. 78408375 c.1889A>G p.Y630C missense 0.00001666●●●●●●
260. 78408375 c.1889delA p.Tyr630LeufsTer56 frameshift 0.00000833●●●●●●
261. 78408378 c.1892T>C p.I631T missense 0.00002499●●●●●●
262. 78408380 c.1894G>C p.E632Q missense 0.00002499●●●●●●
263. 78408384 c.1898G>C p.R633T missense 0.00001666●●●●●●
264. 78408384 c.1898G>A p.R633K missense 0.00000833●●●●●●
265. 78408392 c.1906A>T p.T636S missense 0.00000833●●●●●●
266. 78408392 c.1906_1909delACTT p.Tyr637AlafsTer48 frameshift 0.00000833●●●●●●
267. 78408408 c.1922T>C p.L641S missense 0.00000834●●●●●●
268. 78408422 c.1936C>G p.P646A missense 0.00000834●●●●●●
269. 78408429 c.1943A>G p.D648G missense 0.00000834●●●●●●
270. 78408431 c.1945_1947delGGA p.G649del1 inframe 0.00013341●●●●●●
271. 78408441 c.1955A>G p.Y652C missense 0.00010010●●●●●●
272. 78408443 c.1957A>G p.M653V missense 0.00001669●●●●●●
273. 78408444 c.1958T>C p.M653T missense 0.00003338●●●●●●
274. 78408480 c.1994G>A p.S665N missense 0.00000844●●●●●●
275. 78408480 c.1994G>T p.S665I missense 0.00000844●●●●●●
276. 78408482 c.1996A>G p.T666A missense 0.00001692●●●●●●
277. 78408483 c.1997C>A p.T666N missense 0.00002539●●●●●●
278. 78408488 c.2002A>G p.I668V missense 0.00000854●●●●●●
279. 78408491 c.2005C>T p.L669F missense 0.00000856●●●●●●
280. 78408498 c.2012T>C p.I671T missense 0.00001744●●●●●●
281. 78408505 c.2019T>A p.S673R missense 0.00001797●●●●●●
282. 78408509 c.2023_2026delAATT p.X676HisfsX9 frameshift 0.00000909●●●●●●

* 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.