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. 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. 78408155 c.1669_1674delGAGGAG p.Glu557_Glu558delinsdel inframe 0.00028527●●●●●●
8. 78407816 c.1582G>C p.E528Q missense 0.00026781●●●●●●
9. 78395085 c.949A>C p.M317L missense 0.00025826●●●●●●
10. 78408274 c.1788T>G p.S596R missense 0.00025751●●●●●●
11. 78401498 c.1252-10T>G splice site 0.00025471●●●●●●
12. 78407806 c.1572_1574delAGA p.R524_E525delinsR inframe 0.00021805●●●●●●
13. 78392222 c.613G>A p.E205K missense 0.00019083●●●●●●
14. 78401672 c.1416_1418delAAG p.A472_R473delinsA inframe 0.00018341●●●●●●
15. 78395164 c.1028C>T p.A343V missense 0.00016582●●●●●●
16. 78395104 c.968A>G p.E323G missense 0.00015027●●●●●●
17. 78401657 c.1401_1403delAGA p.Glu470del inframe 0.00014183●●●●●●
18. 78408431 c.1945_1947delGGA p.G649del1 inframe 0.00013341●●●●●●
19. 78395123 c.987_989delAGA p.Glu332del inframe 0.00012529●●●●●●
20. 78392569 c.856C>T p.R286W missense 0.00010075●●●●●●
21. 78408441 c.1955A>G p.Y652C missense 0.00010010●●●●●●
22. 78401691 c.1435C>T p.L479F missense 0.00010001●●●●●●
23. 78395029 c.893C>G p.T298R missense 0.00009984●●●●●●
24. 78394996 c.865-5G>A splice site 0.00009207●●●●●●
25. 78392300 c.687+4A>T splice site 0.00009123●●●●●●
26. 78395053 c.917G>A p.R306H missense 0.00008319●●●●●●
27. 78392195 c.586C>T p.R196C missense 0.00008306●●●●●●
28. 78392304 c.687+8_687+11delTTTG splice site 0.00007465●●●●●●
29. 78401558 c.1302delG p.Ile435SerfsTer3 frameshift 0.00006717●●●●●●
30. 78392243 c.634T>A p.Y212N missense 0.00006634●●●●●●
31. 78399025 c.1112C>T p.P371L missense 0.00006133●●●●●●
32. 78399103 c.1190G>A p.R397Q missense 0.00005976●●●●●●
33. 78383398 c.175G>A p.E59K missense 0.00005843●●●●●●
34. 78401709 c.1453G>A p.E485K missense 0.00005008●●●●●●
35. 78407874 c.1640T>C p.I547T missense 0.00005007●●●●●●
36. 78392225 c.616G>A p.E206K missense 0.00004977●●●●●●
37. 78383875 c.364G>C p.E122Q missense 0.00004969●●●●●●
38. 78407718 c.1484T>C p.V495A missense 0.00003903●●●●●●
39. 78407723 c.1489G>A p.V497I missense 0.00003831●●●●●●
40. 78390892 c.467C>T p.T156M missense 0.00003344●●●●●●
41. 78408444 c.1958T>C p.M653T missense 0.00003338●●●●●●
42. 78407870 c.1636G>C p.E546Q missense 0.00003337●●●●●●
43. 78401671 c.1415C>G p.A472G missense 0.00003335●●●●●●
44. 78401686 c.1430T>C p.I477T missense 0.00003334●●●●●●
45. 78383380 c.157G>A p.E53K missense 0.00003331●●●●●●
46. 78392391 c.688-10G>A splice site 0.00003320●●●●●●
47. 78383873 c.362C>T p.T121M missense 0.00003313●●●●●●
48. 78383890 c.379C>T p.R127C missense 0.00003313●●●●●●
49. 78383891 c.380G>A p.R127H missense 0.00003313●●●●●●
50. 78383903 c.392A>G p.Q131R missense 0.00003313●●●●●●
51. 78381796 c.5_7delATG p.N2_D3delinsN inframe 0.00002908●●●●●●
52. 78399001 c.1088C>G p.T363R missense 0.00002723●●●●●●
53. 78408483 c.1997C>A p.T666N missense 0.00002539●●●●●●
54. 78401727 c.1471G>C p.E491Q missense 0.00002524●●●●●●
55. 78394992 c.865-9T>C splice site 0.00002515●●●●●●
56. 78401572 c.1316G>A p.R439K missense 0.00002514●●●●●●
57. 78392548 c.835C>A p.R279S missense 0.00002512●●●●●●
58. 78392531 c.818G>A p.R273H missense 0.00002508●●●●●●
59. 78407849 c.1615C>T p.R539C missense 0.00002502●●●●●●
60. 78401667 c.1411C>T p.R471X nonsense 0.00002502●●●●●●
61. 78407859 c.1625T>G p.F542C missense 0.00002502●●●●●●
62. 78392496 c.783C>G p.N261K missense 0.00002501●●●●●●
63. 78408380 c.1894G>C p.E632Q missense 0.00002499●●●●●●
64. 78408378 c.1892T>C p.I631T missense 0.00002499●●●●●●
65. 78395038 c.902T>A p.I301N missense 0.00002495●●●●●●
66. 78408304 c.1818_1820delAGG p.Gly607del inframe 0.00002494●●●●●●
67. 78383294 c.71C>T p.P24L missense 0.00002493●●●●●●
68. 78383329 c.106G>A p.E36K missense 0.00002490●●●●●●
69. 78392229 c.620A>G p.D207G missense 0.00002489●●●●●●
70. 78383637 c.220-8delC splice site 0.00002488●●●●●●
71. 78383667 c.242A>T p.D81V missense 0.00002487●●●●●●
72. 78395187 c.1051A>G p.M351V missense 0.00002487●●●●●●
73. 78383927 c.416T>C p.I139T missense 0.00002485●●●●●●
74. 78383881 c.370G>A p.E124K missense 0.00002484●●●●●●
75. 78398983 c.1070C>T p.S357F missense 0.00001946●●●●●●
76. 78408505 c.2019T>A p.S673R missense 0.00001797●●●●●●
77. 78408498 c.2012T>C p.I671T missense 0.00001744●●●●●●
78. 78399139 c.1226A>C p.E409A missense 0.00001742●●●●●●
79. 78399136 c.1223T>G p.F408C missense 0.00001735●●●●●●
80. 78407762 c.1528A>G p.K510E missense 0.00001718●●●●●●
81. 78407763 c.1529A>G p.K510R missense 0.00001716●●●●●●
82. 78401516 c.1260A>T p.E420D missense 0.00001709●●●●●●
83. 78399099 c.1186G>A p.E396K missense 0.00001705●●●●●●
84. 78408482 c.1996A>G p.T666A missense 0.00001692●●●●●●
85. 78408148 c.1662A>G splice site 0.00001683●●●●●●
86. 78408155 c.1669_1671delGAG p.Glu560del inframe 0.00001678●●●●●●
87. 78392561 c.848A>T p.E283V missense 0.00001677●●●●●●
88. 78392549 c.836G>A p.R279H missense 0.00001675●●●●●●
89. 78407886 c.1652T>C p.L551P missense 0.00001671●●●●●●
90. 78407829 c.1595T>C p.I532T missense 0.00001670●●●●●●
91. 78408443 c.1957A>G p.M653V missense 0.00001669●●●●●●
92. 78395127 c.991G>T p.Glu331Ter nonsense 0.00001668●●●●●●
93. 78401701 c.1445A>G p.K482R missense 0.00001668●●●●●●
94. 78383387 c.164A>G p.Q55R missense 0.00001666●●●●●●
95. 78408375 c.1889A>G p.Y630C missense 0.00001666●●●●●●
96. 78408384 c.1898G>C p.R633T missense 0.00001666●●●●●●
97. 78395052 c.916C>A p.R306S missense 0.00001664●●●●●●
98. 78408341 c.1855G>A p.G619R missense 0.00001664●●●●●●
99. 78408345 c.1859A>G p.E620G missense 0.00001664●●●●●●
100. 78395047 c.911G>T p.G304V missense 0.00001663●●●●●●
101. 78392161 c.552A>C p.K184N missense 0.00001663●●●●●●
102. 78395042 c.906T>A p.F302L missense 0.00001663●●●●●●
103. 78408219 c.1733G>C p.R578T missense 0.00001662●●●●●●
104. 78408257 c.1771A>G p.T591A missense 0.00001662●●●●●●
105. 78408291 c.1805C>T p.T602M missense 0.00001662●●●●●●
106. 78408239 c.1753_1755delAAG p.Lys585del inframe 0.00001662●●●●●●
107. 78408264 c.1778T>C p.V593A missense 0.00001661●●●●●●
108. 78392441 c.728C>G p.S243C missense 0.00001661●●●●●●
109. 78392431 c.718delG p.Glu240AsnfsTer8 frameshift 0.00001660●●●●●●
110. 78383675 c.250G>A p.E84K missense 0.00001658●●●●●●
111. 78392289 c.680T>C p.L227S missense 0.00001658●●●●●●
112. 78383672 c.247G>A p.E83K missense 0.00001658●●●●●●
113. 78395166 c.1030T>C p.F344L missense 0.00001658●●●●●●
114. 78395190 c.1053+1G>A essential splice site 0.00001658●●●●●●
115. 78383647 c.222T>C splice site 0.00001658●●●●●●
116. 78383807 c.299-3T>C splice site 0.00001658●●●●●●
117. 78383821 c.310G>A p.G104S missense 0.00001657●●●●●●
118. 78383825 c.314G>C p.R105T missense 0.00001657●●●●●●
119. 78383933 c.422G>A p.R141H missense 0.00001657●●●●●●
120. 78381815 c.24_27+1delTGAGG essential splice site 0.00001047●●●●●●
121. 78407715 c.1481A>T p.D494V missense 0.00000987●●●●●●
122. 78407717 c.1483G>A p.V495I missense 0.00000980●●●●●●
123. 78407718 c.1484T>A p.V495D missense 0.00000976●●●●●●
124. 78381792 c.1A>C p.Met1? missense 0.00000967●●●●●●
125. 78398986 c.1073C>T p.P358L missense 0.00000955●●●●●●
126. 78398997 c.1084A>C p.K362Q missense 0.00000916●●●●●●
127. 78408509 c.2023_2026delAATT p.X676HisfsX9 frameshift 0.00000909●●●●●●
128. 78399153 c.1240G>C p.E414Q missense 0.00000897●●●●●●
129. 78399007 c.1094C>G p.S365C missense 0.00000896●●●●●●
130. 78407744 c.1510G>A p.E504K missense 0.00000889●●●●●●
131. 78399012 c.1099G>A p.E367K missense 0.00000887●●●●●●
132. 78407745 c.1511A>G p.E504G missense 0.00000886●●●●●●
133. 78399147 c.1234A>G p.R412G missense 0.00000880●●●●●●
134. 78399030 c.1117A>C p.K373Q missense 0.00000873●●●●●●
135. 78399140 c.1227A>T p.E409D missense 0.00000873●●●●●●
136. 78399138 c.1225G>C p.E409Q missense 0.00000871●●●●●●
137. 78399131 c.1218A>C p.Q406H missense 0.00000863●●●●●●
138. 78399130 c.1217_1219delAAG p.Glu407del inframe 0.00000862●●●●●●
139. 78399075 c.1162G>T p.E388X nonsense 0.00000857●●●●●●
140. 78408491 c.2005C>T p.L669F missense 0.00000856●●●●●●
141. 78399084 c.1171C>T p.R391X nonsense 0.00000855●●●●●●
142. 78399076 c.1163A>G p.E388G missense 0.00000855●●●●●●
143. 78399113 c.1200G>C p.K400N missense 0.00000855●●●●●●
144. 78399085 c.1172G>A p.R391Q missense 0.00000854●●●●●●
145. 78399087 c.1174C>T p.R392X nonsense 0.00000854●●●●●●
146. 78399108 c.1195C>A p.H399N missense 0.00000854●●●●●●
147. 78408488 c.2002A>G p.I668V missense 0.00000854●●●●●●
148. 78399098 c.1185G>T p.E395D missense 0.00000853●●●●●●
149. 78399102 c.1189C>T p.R397W missense 0.00000853●●●●●●
150. 78407769 c.1535A>G p.N512S missense 0.00000853●●●●●●
151. 78383249 c.28-2A>G essential splice site 0.00000850●●●●●●
152. 78401527 c.1271C>T p.T424I missense 0.00000849●●●●●●
153. 78408480 c.1994G>A p.S665N missense 0.00000844●●●●●●
154. 78408480 c.1994G>T p.S665I missense 0.00000844●●●●●●
155. 78407787 c.1553A>T p.E518V missense 0.00000843●●●●●●
156. 78401729 c.1473G>A splice site 0.00000843●●●●●●
157. 78401545 c.1289A>C p.E430A missense 0.00000842●●●●●●
158. 78392577 c.864G>T p.M288I missense 0.00000841●●●●●●
159. 78401550 c.1294G>A p.E432K missense 0.00000841●●●●●●
160. 78401725 c.1469A>G p.H490R missense 0.00000841●●●●●●
161. 78392578 c.864+1G>A essential splice site 0.00000841●●●●●●
162. 78401557 c.1301T>G p.L434R missense 0.00000840●●●●●●
163. 78407806 c.1572_1574dupAGA p.Glu525dup inframe 0.00000839●●●●●●
164. 78392552 c.839C>G p.A280G missense 0.00000838●●●●●●
165. 78401575 c.1319G>A p.S440N missense 0.00000838●●●●●●
166. 78394997 c.865-4T>C splice site 0.00000837●●●●●●
167. 78407816 c.1582G>A p.E528K missense 0.00000837●●●●●●
168. 78408164 c.1678G>A p.E560K missense 0.00000836●●●●●●
169. 78401622 c.1366G>A p.G456R missense 0.00000836●●●●●●
170. 78390900 c.475G>C p.E159Q missense 0.00000836●●●●●●
171. 78390909 c.484T>A p.S162T missense 0.00000836●●●●●●
172. 78392108 c.499G>A p.D167N missense 0.00000836●●●●●●
173. 78392522 c.809C>T p.A270V missense 0.00000836●●●●●●
174. 78401611 c.1355T>C p.F452S missense 0.00000836●●●●●●
175. 78401631 c.1375T>C p.S459P missense 0.00000836●●●●●●
176. 78407819 c.1585C>A p.Q529K missense 0.00000836●●●●●●
177. 78407826 c.1592G>A p.R531K missense 0.00000836●●●●●●
178. 78407893 c.1659G>C p.K553N missense 0.00000836●●●●●●
179. 78383409 c.186_187insAG p.Trp67AsnfsTer25 frameshift 0.00000836●●●●●●
180. 78392535 c.822_824delAGA p.Glu277del inframe 0.00000836●●●●●●
181. 78401603 c.1347_1350delAAGC p.Lys451LeufsTer16 frameshift 0.00000836●●●●●●
182. 78407822 c.1588_1589delAG p.Arg530LysfsTer3 frameshift 0.00000836●●●●●●
183. 78383398 c.175G>C p.E59Q missense 0.00000835●●●●●●
184. 78383408 c.185T>A p.I62N missense 0.00000835●●●●●●
185. 78392512 c.799G>T p.E267X nonsense 0.00000835●●●●●●
186. 78395115 c.979A>G p.R327G missense 0.00000835●●●●●●
187. 78401641 c.1385A>T p.E462V missense 0.00000835●●●●●●
188. 78401644 c.1388T>C p.I463T missense 0.00000835●●●●●●
189. 78401713 c.1457C>T p.A486V missense 0.00000835●●●●●●
190. 78401656 c.1400T>C p.I467T missense 0.00000834●●●●●●
191. 78392498 c.785G>A p.R262Q missense 0.00000834●●●●●●
192. 78392120 c.511A>G p.I171V missense 0.00000834●●●●●●
193. 78392498 c.785G>T p.R262L missense 0.00000834●●●●●●
194. 78392506 c.793C>A p.Q265K missense 0.00000834●●●●●●
195. 78395007 c.871G>A p.E291K missense 0.00000834●●●●●●
196. 78401665 c.1409A>C p.E470A missense 0.00000834●●●●●●
197. 78401668 c.1412G>A p.R471Q missense 0.00000834●●●●●●
198. 78401668 c.1412G>T p.R471L missense 0.00000834●●●●●●
199. 78401706 c.1450C>T p.R484X nonsense 0.00000834●●●●●●
200. 78407850 c.1616G>A p.R539H missense 0.00000834●●●●●●
201. 78407855 c.1621C>A p.Q541K missense 0.00000834●●●●●●
202. 78407861 c.1627G>C p.E543Q missense 0.00000834●●●●●●
203. 78407861 c.1627G>A p.E543K missense 0.00000834●●●●●●
204. 78407868 c.1634G>C p.R545T missense 0.00000834●●●●●●
205. 78407868 c.1634G>A p.R545K missense 0.00000834●●●●●●
206. 78408408 c.1922T>C p.L641S missense 0.00000834●●●●●●
207. 78408422 c.1936C>G p.P646A missense 0.00000834●●●●●●
208. 78408429 c.1943A>G p.D648G missense 0.00000834●●●●●●
209. 78407843 c.1609_1610insA p.Leu537TyrfsTer7 frameshift 0.00000834●●●●●●
210. 78383278 c.55C>T p.P19S missense 0.00000833●●●●●●
211. 78383276 c.53T>C p.V18A missense 0.00000833●●●●●●
212. 78392126 c.517G>A p.V173M missense 0.00000833●●●●●●
213. 78392129 c.520G>A p.V174I missense 0.00000833●●●●●●
214. 78392480 c.767G>A p.R256Q missense 0.00000833●●●●●●
215. 78395011 c.875A>G p.D292G missense 0.00000833●●●●●●
216. 78408180 c.1694T>C p.I565T missense 0.00000833●●●●●●
217. 78408369 c.1883A>G p.Y628C missense 0.00000833●●●●●●
218. 78408384 c.1898G>A p.R633K missense 0.00000833●●●●●●
219. 78408392 c.1906A>T p.T636S missense 0.00000833●●●●●●
220. 78383387 c.164_167delAAAG p.Arg56GlufsTer34 frameshift 0.00000833●●●●●●
221. 78392491 c.778_779insA p.Asn261LysfsTer7 frameshift 0.00000833●●●●●●
222. 78408375 c.1889delA p.Tyr630LeufsTer56 frameshift 0.00000833●●●●●●
223. 78408392 c.1906_1909delACTT p.Tyr637AlafsTer48 frameshift 0.00000833●●●●●●
224. 78395028 c.892A>G p.T298A missense 0.00000832●●●●●●
225. 78395050 c.914A>G p.Y305C missense 0.00000832●●●●●●
226. 78383374 c.151A>G p.R51G missense 0.00000832●●●●●●
227. 78392151 c.542C>T p.T181I missense 0.00000832●●●●●●
228. 78392466 c.753T>G p.F251L missense 0.00000832●●●●●●
229. 78395022 c.886C>G p.Q296E missense 0.00000832●●●●●●
230. 78395052 c.916C>T p.R306C missense 0.00000832●●●●●●
231. 78395055 c.919C>A p.P307T missense 0.00000832●●●●●●
232. 78395056 c.920C>T p.P307L missense 0.00000832●●●●●●
233. 78408204 c.1718A>C p.D573A missense 0.00000832●●●●●●
234. 78408354 c.1868A>G p.Q623R missense 0.00000832●●●●●●
235. 78408199 c.1713_1718delTGAAGA p.Asp573_Glu574del inframe 0.00000832●●●●●●
236. 78408209 c.1723G>C p.E575Q missense 0.00000831●●●●●●
237. 78408225 c.1739G>A p.G580E missense 0.00000831●●●●●●
238. 78383348 c.125G>A p.R42K missense 0.00000831●●●●●●
239. 78392163 c.554T>C p.M185T missense 0.00000831●●●●●●
240. 78392166 c.557A>C p.K186T missense 0.00000831●●●●●●
241. 78392170 c.561G>T p.K187N missense 0.00000831●●●●●●
242. 78392195 c.586C>A p.R196S missense 0.00000831●●●●●●
243. 78395146 c.1010T>C p.I337T missense 0.00000831●●●●●●
244. 78408206 c.1720G>A p.E574K missense 0.00000831●●●●●●
245. 78408209 c.1723G>A p.E575K missense 0.00000831●●●●●●
246. 78408218 c.1732A>G p.R578G missense 0.00000831●●●●●●
247. 78408231 c.1745C>T p.P582L missense 0.00000831●●●●●●
248. 78408258 c.1772C>T p.T591I missense 0.00000831●●●●●●
249. 78408266 c.1780G>A p.V594I missense 0.00000831●●●●●●
250. 78408272 c.1786A>G p.S596G missense 0.00000831●●●●●●
251. 78408289 c.1803T>A p.F601L missense 0.00000831●●●●●●
252. 78408315 c.1829A>G p.K610R missense 0.00000831●●●●●●
253. 78392196 c.587G>A p.R196H missense 0.00000830●●●●●●
254. 78383308 c.85G>T p.G29C missense 0.00000830●●●●●●
255. 78383321 c.98A>G p.D33G missense 0.00000830●●●●●●
256. 78383333 c.110C>T p.A37V missense 0.00000830●●●●●●
257. 78383335 c.112A>C p.M38L missense 0.00000830●●●●●●
258. 78392221 c.612C>G p.Y204X nonsense 0.00000830●●●●●●
259. 78392225 c.616G>C p.E206Q missense 0.00000830●●●●●●
260. 78392413 c.700G>C p.E234Q missense 0.00000830●●●●●●
261. 78392400 c.688-1G>C essential splice site 0.00000830●●●●●●
262. 78383669 c.244G>C p.D82H missense 0.00000829●●●●●●
263. 78392302 c.687+6T>A splice site 0.00000829●●●●●●
264. 78383680 c.255T>G p.D85E missense 0.00000829●●●●●●
265. 78383732 c.298+9C>T splice site 0.00000829●●●●●●
266. 78383697 c.272A>G p.E91G missense 0.00000829●●●●●●
267. 78383721 c.296C>T p.T99I missense 0.00000829●●●●●●
268. 78383942 c.431C>G p.A144G missense 0.00000829●●●●●●
269. 78383956 c.445C>G p.Q149E missense 0.00000829●●●●●●
270. 78392242 c.633A>T p.R211S missense 0.00000829●●●●●●
271. 78392249 c.640G>C p.E214Q missense 0.00000829●●●●●●
272. 78392255 c.646C>T p.R216X nonsense 0.00000829●●●●●●
273. 78392256 c.647G>A p.R216Q missense 0.00000829●●●●●●
274. 78392282 c.673C>T p.L225F missense 0.00000829●●●●●●
275. 78392291 c.682G>A p.V228I missense 0.00000829●●●●●●
276. 78383724 c.298+1G>C essential splice site 0.00000829●●●●●●
277. 78383637 c.220-8C>G splice site 0.00000829●●●●●●
278. 78392300 c.687+4A>C splice site 0.00000829●●●●●●
279. 78383902 c.391C>G p.Q131E missense 0.00000828●●●●●●
280. 78383840 c.329A>G p.E110G missense 0.00000828●●●●●●
281. 78383856 c.345G>T p.E115D missense 0.00000828●●●●●●
282. 78383885 c.374G>A p.R125Q 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.