NSUN2 missense variants in ExAC

NSUN2 gene summary
NSUN2 variants in

The table below lists the NSUN2 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. 6600064 c.2279C>A p.P760Q missense 0.05877313●●●●●●
2. 6604329 c.1879G>A p.V627I missense 0.00600238●●●●●●
3. 6600200 c.2143G>A p.V715I missense 0.00505724●●●●●●
4. 6633071 c.22C>T p.R8W missense 0.00373134●●●●●●
5. 6600043 c.2300G>A p.R767Q missense 0.00348214●●●●●●
6. 6600071 c.2272T>C p.C758R missense 0.00092260●●●●●●
7. 6616864 c.997G>A p.A333T missense 0.00049442●●●●●●
8. 6623335 c.529C>T p.H177Y missense 0.00046956●●●●●●
9. 6600283 c.2060G>A p.R687Q missense 0.00032142●●●●●●
10. 6600149 c.2194G>A p.V732M missense 0.00030475●●●●●●
11. 6607370 c.1451T>A p.I484K missense 0.00028006●●●●●●
12. 6600155 c.2188A>G p.N730D missense 0.00019768●●●●●●
13. 6600133 c.2210G>C p.R737T missense 0.00015649●●●●●●
14. 6611887 c.1046C>T p.S349F missense 0.00013200●●●●●●
15. 6611110 c.1184C>T p.P395L missense 0.00011536●●●●●●
16. 6600061 c.2282C>T p.A761V missense 0.00010711●●●●●●
17. 6632817 c.149A>C p.H50P missense 0.00009891●●●●●●
18. 6607368 c.1453G>C p.A485P missense 0.00009884●●●●●●
19. 6600213 c.2130G>T p.K710N missense 0.00009060●●●●●●
20. 6600318 c.2025C>G p.I675M missense 0.00008270●●●●●●
21. 6604756 c.1780G>A p.G594S missense 0.00008237●●●●●●
22. 6600083 c.2260G>A p.V754M missense 0.00007413●●●●●●
23. 6607367 c.1454C>T p.A485V missense 0.00007413●●●●●●
24. 6620271 c.763G>A p.G255S missense 0.00006607●●●●●●
25. 6600244 c.2099G>A p.R700K missense 0.00006590●●●●●●
26. 6609974 c.1288A>G p.K430E missense 0.00005769●●●●●●
27. 6623385 c.479G>A p.R160H missense 0.00005768●●●●●●
28. 6632074 c.271C>T p.L91F missense 0.00004951●●●●●●
29. 6618091 c.862A>G p.T288A missense 0.00004945●●●●●●
30. 6600064 c.2279C>T p.P760L missense 0.00004943●●●●●●
31. 6607448 c.1373C>T p.A458V missense 0.00004942●●●●●●
32. 6600337 c.2006A>G p.D669G missense 0.00004186●●●●●●
33. 6632850 c.116C>T p.P39L missense 0.00004153●●●●●●
34. 6604338 c.1870A>G p.M624V missense 0.00004139●●●●●●
35. 6632829 c.137A>G p.K46R missense 0.00004126●●●●●●
36. 6620298 c.736A>G p.I246V missense 0.00004122●●●●●●
37. 6616948 c.913C>T p.R305C missense 0.00004122●●●●●●
38. 6616947 c.914G>A p.R305H missense 0.00004121●●●●●●
39. 6618111 c.842T>C p.I281T missense 0.00004121●●●●●●
40. 6611159 c.1135G>A p.A379T missense 0.00004119●●●●●●
41. 6600154 c.2189A>G p.N730S missense 0.00004118●●●●●●
42. 6602574 c.1997C>T p.A666V missense 0.00004118●●●●●●
43. 6620249 c.785A>C p.Y262S missense 0.00003332●●●●●●
44. 6620249 c.785A>G p.Y262C missense 0.00003332●●●●●●
45. 6620375 c.659G>A p.R220H missense 0.00003327●●●●●●
46. 6622203 c.548T>C p.M183T missense 0.00003297●●●●●●
47. 6611191 c.1103C>T p.T368M missense 0.00003296●●●●●●
48. 6632766 c.200T>C p.M67T missense 0.00003296●●●●●●
49. 6600206 c.2137G>A p.E713K missense 0.00003295●●●●●●
50. 6604386 c.1822A>G p.I608V missense 0.00002553●●●●●●
51. 6604370 c.1838C>A p.P613Q missense 0.00002520●●●●●●
52. 6611081 c.1213C>T p.H405Y missense 0.00002481●●●●●●
53. 6604311 c.1897C>A p.Q633K missense 0.00002477●●●●●●
54. 6604798 c.1738G>A p.V580I missense 0.00002476●●●●●●
55. 6611869 c.1064T>C p.L355P missense 0.00002475●●●●●●
56. 6600302 c.2041C>T p.R681W missense 0.00002475●●●●●●
57. 6600044 c.2299C>T p.R767W missense 0.00002474●●●●●●
58. 6632055 c.290A>G p.K97R missense 0.00002473●●●●●●
59. 6616872 c.989C>G p.A330G missense 0.00002472●●●●●●
60. 6632036 c.309G>C p.E103D missense 0.00002472●●●●●●
61. 6632772 c.194A>T p.Q65L missense 0.00002472●●●●●●
62. 6600175 c.2168C>T p.A723V missense 0.00002471●●●●●●
63. 6607409 c.1412T>C p.L471P missense 0.00002471●●●●●●
64. 6605484 c.1639A>G p.N547D missense 0.00002471●●●●●●
65. 6600260 c.2083C>T p.R695W missense 0.00002471●●●●●●
66. 6600203 c.2140G>A p.G714R missense 0.00002471●●●●●●
67. 6623371 c.493A>G p.S165G missense 0.00002471●●●●●●
68. 6600266 c.2077A>G p.N693D missense 0.00002471●●●●●●
69. 6600242 c.2101A>G p.M701V missense 0.00002471●●●●●●
70. 6600070 c.2273G>A p.C758Y missense 0.00002471●●●●●●
71. 6620410 c.624G>T p.E208D missense 0.00001708●●●●●●
72. 6600335 c.2008G>A p.A670T missense 0.00001672●●●●●●
73. 6607024 c.1510C>T p.P504S missense 0.00001668●●●●●●
74. 6604263 c.1945G>A p.A649T missense 0.00001663●●●●●●
75. 6606964 c.1570C>T p.P524S missense 0.00001657●●●●●●
76. 6625702 c.440A>G p.Q147R missense 0.00001657●●●●●●
77. 6604276 c.1932G>T p.E644D missense 0.00001655●●●●●●
78. 6625726 c.416C>T p.S139L missense 0.00001652●●●●●●
79. 6611084 c.1210A>G p.M404V missense 0.00001652●●●●●●
80. 6600311 c.2032T>G p.C678G missense 0.00001652●●●●●●
81. 6632728 c.238A>G p.I80V missense 0.00001651●●●●●●
82. 6632736 c.230C>G p.T77S missense 0.00001650●●●●●●
83. 6611093 c.1201C>G p.L401V missense 0.00001650●●●●●●
84. 6607320 c.1501G>A p.V501M missense 0.00001650●●●●●●
85. 6620277 c.757G>C p.V253L missense 0.00001650●●●●●●
86. 6616960 c.901C>T p.R301W missense 0.00001650●●●●●●
87. 6607488 c.1333A>G p.K445E missense 0.00001649●●●●●●
88. 6607485 c.1336T>G p.S446A missense 0.00001649●●●●●●
89. 6631989 c.356G>C p.S119T missense 0.00001649●●●●●●
90. 6609949 c.1313G>A p.R438H missense 0.00001649●●●●●●
91. 6600293 c.2050G>T p.A684S missense 0.00001649●●●●●●
92. 6609950 c.1312C>T p.R438C missense 0.00001649●●●●●●
93. 6632053 c.292T>C p.Y98H missense 0.00001649●●●●●●
94. 6611198 c.1096G>A p.V366I missense 0.00001649●●●●●●
95. 6616927 c.934G>C p.E312Q missense 0.00001648●●●●●●
96. 6632802 c.164T>C p.L55P missense 0.00001648●●●●●●
97. 6600265 c.2078A>G p.N693S missense 0.00001648●●●●●●
98. 6605405 c.1718A>G p.N573S missense 0.00001648●●●●●●
99. 6611120 c.1174A>G p.M392V missense 0.00001648●●●●●●
100. 6600073 c.2270G>C p.G757A missense 0.00001648●●●●●●
101. 6611179 c.1115A>G p.Q372R missense 0.00001648●●●●●●
102. 6632799 c.167A>G p.K56R missense 0.00001648●●●●●●
103. 6632807 c.159G>C p.Q53H missense 0.00001648●●●●●●
104. 6616885 c.976A>G p.I326V missense 0.00001648●●●●●●
105. 6607467 c.1354A>G p.S452G missense 0.00001648●●●●●●
106. 6600283 c.2060G>T p.R687L missense 0.00001648●●●●●●
107. 6607476 c.1345A>T p.T449S missense 0.00001648●●●●●●
108. 6600271 c.2072C>A p.P691H missense 0.00001648●●●●●●
109. 6623341 c.523C>T p.R175W missense 0.00001648●●●●●●
110. 6602587 c.1984G>A p.E662K missense 0.00001647●●●●●●
111. 6604767 c.1769G>A p.R590K missense 0.00001647●●●●●●
112. 6600176 c.2167G>A p.A723T missense 0.00001647●●●●●●
113. 6600113 c.2230C>G p.P744A missense 0.00001647●●●●●●
114. 6604732 c.1804C>T p.R602W missense 0.00001647●●●●●●
115. 6605472 c.1651C>T p.R551W missense 0.00001647●●●●●●
116. 6623344 c.520G>A p.V174M missense 0.00001647●●●●●●
117. 6620396 c.638C>G p.A213G missense 0.00000845●●●●●●
118. 6632863 c.103G>A p.E35K missense 0.00000843●●●●●●
119. 6632862 c.104A>T p.E35V missense 0.00000841●●●●●●
120. 6604367 c.1841T>G p.F614C missense 0.00000840●●●●●●
121. 6620243 c.791G>A p.R264Q missense 0.00000839●●●●●●
122. 6604251 c.1957G>A p.A653T missense 0.00000838●●●●●●
123. 6600338 c.2005G>C p.D669H missense 0.00000837●●●●●●
124. 6606937 c.1597A>G p.I533V missense 0.00000837●●●●●●
125. 6604364 c.1844T>C p.I615T missense 0.00000837●●●●●●
126. 6607024 c.1510C>A p.P504T missense 0.00000834●●●●●●
127. 6600334 c.2009C>G p.A670G missense 0.00000834●●●●●●
128. 6604358 c.1850C>T p.S617L missense 0.00000833●●●●●●
129. 6620376 c.658C>T p.R220C missense 0.00000832●●●●●●
130. 6632848 c.118G>A p.E40K missense 0.00000830●●●●●●
131. 6604351 c.1857T>G p.I619M missense 0.00000830●●●●●●
132. 6606955 c.1579G>A p.D527N missense 0.00000830●●●●●●
133. 6606964 c.1570C>G p.P524A missense 0.00000829●●●●●●
134. 6611840 c.1093A>G p.K365E missense 0.00000829●●●●●●
135. 6606963 c.1571C>G p.P524R missense 0.00000829●●●●●●
136. 6606957 c.1577A>G p.D526G missense 0.00000829●●●●●●
137. 6606961 c.1573G>A p.E525K missense 0.00000829●●●●●●
138. 6604343 c.1865T>C p.V622A missense 0.00000828●●●●●●
139. 6606981 c.1553A>G p.D518G missense 0.00000828●●●●●●
140. 6632843 c.123C>G p.I41M missense 0.00000828●●●●●●
141. 6606990 c.1544T>C p.F515S missense 0.00000828●●●●●●
142. 6620265 c.769A>G p.K257E missense 0.00000827●●●●●●
143. 6632712 c.254G>A p.S85N missense 0.00000827●●●●●●
144. 6600317 c.2026G>A p.V676I missense 0.00000827●●●●●●
145. 6611845 c.1088A>C p.Q363P missense 0.00000827●●●●●●
146. 6632842 c.124G>T p.V42F missense 0.00000827●●●●●●
147. 6620361 c.673G>A p.V225I missense 0.00000827●●●●●●
148. 6632087 c.258C>A p.H86Q missense 0.00000827●●●●●●
149. 6604281 c.1927A>G p.S643G missense 0.00000826●●●●●●
150. 6600311 c.2032T>C p.C678R missense 0.00000826●●●●●●
151. 6632838 c.128A>G p.K43R missense 0.00000826●●●●●●
152. 6611894 c.1039G>C p.D347H missense 0.00000826●●●●●●
153. 6632721 c.245G>A p.G82D missense 0.00000826●●●●●●
154. 6620270 c.764G>A p.G255D missense 0.00000826●●●●●●
155. 6632724 c.242C>T p.T81I missense 0.00000826●●●●●●
156. 6611897 c.1036G>A p.A346T missense 0.00000826●●●●●●
157. 6625717 c.425T>G p.L142W missense 0.00000826●●●●●●
158. 6607497 c.1324C>T p.L442F missense 0.00000826●●●●●●
159. 6611850 c.1083C>G p.I361M missense 0.00000826●●●●●●
160. 6600308 c.2035G>A p.G679R missense 0.00000826●●●●●●
161. 6600299 c.2044G>C p.G682R missense 0.00000825●●●●●●
162. 6604308 c.1900G>A p.E634K missense 0.00000825●●●●●●
163. 6611885 c.1048A>C p.N350H missense 0.00000825●●●●●●
164. 6600047 c.2296C>T p.P766S missense 0.00000825●●●●●●
165. 6632077 c.268A>T p.I90F missense 0.00000825●●●●●●
166. 6632065 c.280T>G p.L94V missense 0.00000825●●●●●●
167. 6611857 c.1076C>T p.P359L missense 0.00000825●●●●●●
168. 6600295 c.2048A>C p.K683T missense 0.00000825●●●●●●
169. 6611888 c.1045T>A p.S349T missense 0.00000825●●●●●●
170. 6632727 c.239T>C p.I80T missense 0.00000825●●●●●●
171. 6632070 c.275A>G p.H92R missense 0.00000825●●●●●●
172. 6611864 c.1069T>G p.W357G missense 0.00000825●●●●●●
173. 6611137 c.1157C>T p.T386I missense 0.00000824●●●●●●
174. 6604725 c.1811C>T p.A604V missense 0.00000824●●●●●●
175. 6600178 c.2165C>T p.A722V missense 0.00000824●●●●●●
176. 6616906 c.955T>A p.S319T missense 0.00000824●●●●●●
177. 6632007 c.338A>G p.E113G missense 0.00000824●●●●●●
178. 6600098 c.2245G>A p.A749T missense 0.00000824●●●●●●
179. 6609959 c.1303T>C p.W435R missense 0.00000824●●●●●●
180. 6605415 c.1708G>A p.V570M missense 0.00000824●●●●●●
181. 6632800 c.166A>C p.K56Q missense 0.00000824●●●●●●
182. 6632791 c.175C>T p.P59S missense 0.00000824●●●●●●
183. 6620298 c.736A>T p.I246L missense 0.00000824●●●●●●
184. 6607353 c.1468G>A p.D490N missense 0.00000824●●●●●●
185. 6611167 c.1127A>G p.D376G missense 0.00000824●●●●●●
186. 6605400 c.1723A>G p.S575G missense 0.00000824●●●●●●
187. 6632052 c.293A>G p.Y98C missense 0.00000824●●●●●●
188. 6605422 c.1701G>T p.L567F missense 0.00000824●●●●●●
189. 6623388 c.476G>A p.S159N missense 0.00000824●●●●●●
190. 6611106 c.1188G>C p.K396N missense 0.00000824●●●●●●
191. 6600160 c.2183C>T p.P728L missense 0.00000824●●●●●●
192. 6622141 c.610G>A p.V204I missense 0.00000824●●●●●●
193. 6607469 c.1352A>G p.E451G missense 0.00000824●●●●●●
194. 6600073 c.2270G>T p.G757V missense 0.00000824●●●●●●
195. 6600053 c.2290C>A p.H764N missense 0.00000824●●●●●●
196. 6618113 c.840C>A p.N280K missense 0.00000824●●●●●●
197. 6600285 c.2058T>G p.I686M missense 0.00000824●●●●●●
198. 6632782 c.184G>C p.E62Q missense 0.00000824●●●●●●
199. 6600228 c.2115G>C p.E705D missense 0.00000824●●●●●●
200. 6623368 c.496A>G p.M166V missense 0.00000824●●●●●●
201. 6605460 c.1663G>C p.G555R missense 0.00000824●●●●●●
202. 6600253 c.2090A>G p.H697R missense 0.00000824●●●●●●
203. 6632023 c.322G>T p.D108Y missense 0.00000824●●●●●●
204. 6611139 c.1155C>G p.H385Q missense 0.00000824●●●●●●
205. 6604741 c.1795T>C p.C599R missense 0.00000824●●●●●●
206. 6600194 c.2149C>T p.L717F missense 0.00000824●●●●●●
207. 6622203 c.548T>G p.M183R missense 0.00000824●●●●●●
208. 6609961 c.1301C>T p.P434L missense 0.00000824●●●●●●
209. 6600130 c.2213C>A p.A738E missense 0.00000824●●●●●●
210. 6602599 c.1972G>A p.V658M missense 0.00000824●●●●●●
211. 6623358 c.506C>A p.P169Q missense 0.00000824●●●●●●
212. 6605465 c.1658C>T p.T553I missense 0.00000824●●●●●●
213. 6632798 c.168G>T p.K56N missense 0.00000824●●●●●●
214. 6620321 c.713T>G p.V238G missense 0.00000824●●●●●●
215. 6607415 c.1406C>G p.S469C missense 0.00000824●●●●●●
216. 6632770 c.196T>A p.F66I missense 0.00000824●●●●●●
217. 6616942 c.919G>A p.A307T missense 0.00000824●●●●●●
218. 6600277 c.2066T>C p.F689S missense 0.00000824●●●●●●
219. 6600248 c.2095C>T p.L699F missense 0.00000824●●●●●●
220. 6605423 c.1700T>G p.L567W missense 0.00000824●●●●●●
221. 6600218 c.2125G>A p.E709K missense 0.00000824●●●●●●
222. 6600167 c.2176G>A p.G726R missense 0.00000824●●●●●●
223. 6622158 c.593T>A p.L198Q missense 0.00000824●●●●●●
224. 6607475 c.1346C>T p.T449I missense 0.00000824●●●●●●
225. 6607457 c.1364T>G p.L455R missense 0.00000824●●●●●●
226. 6607400 c.1421C>T p.P474L missense 0.00000824●●●●●●
227. 6632784 c.182G>A p.G61D missense 0.00000824●●●●●●
228. 6607346 c.1475A>G p.E492G missense 0.00000824●●●●●●
229. 6609970 c.1292C>T p.S431F missense 0.00000824●●●●●●
230. 6605468 c.1655C>T p.T552I missense 0.00000824●●●●●●
231. 6600257 c.2086C>T p.L696F missense 0.00000824●●●●●●
232. 6632033 c.312C>G p.D104E missense 0.00000824●●●●●●
233. 6600176 c.2167G>C p.A723P missense 0.00000824●●●●●●
234. 6600166 c.2177G>A p.G726E missense 0.00000824●●●●●●
235. 6631996 c.349C>G p.P117A missense 0.00000824●●●●●●
236. 6611156 c.1138G>A p.V380I missense 0.00000824●●●●●●
237. 6623340 c.524G>A p.R175Q missense 0.00000824●●●●●●
238. 6609964 c.1298T>C p.M433T missense 0.00000824●●●●●●
239. 6600130 c.2213C>G p.A738G missense 0.00000824●●●●●●
240. 6600114 c.2229C>A p.S743R missense 0.00000824●●●●●●
241. 6607419 c.1402C>A p.P468T missense 0.00000824●●●●●●
242. 6632758 c.208C>T p.L70F missense 0.00000824●●●●●●
243. 6618081 c.872A>G p.N291S missense 0.00000824●●●●●●
244. 6605439 c.1684A>G p.M562V missense 0.00000824●●●●●●
245. 6605408 c.1715T>G p.L572R missense 0.00000824●●●●●●
246. 6600223 c.2120T>C p.L707S missense 0.00000824●●●●●●
247. 6611122 c.1172C>T p.T391I missense 0.00000824●●●●●●
248. 6600170 c.2173A>G p.T725A missense 0.00000824●●●●●●
249. 6607459 c.1362G>C p.Q454H missense 0.00000824●●●●●●
250. 6602577 c.1994C>T p.S665F missense 0.00000824●●●●●●
251. 6600094 c.2249A>G p.N750S missense 0.00000824●●●●●●
252. 6622191 c.560C>T p.P187L missense 0.00000824●●●●●●
253. 6632788 c.178G>C p.E60Q missense 0.00000824●●●●●●
254. 6607377 c.1444A>G p.T482A missense 0.00000824●●●●●●
255. 6607352 c.1469A>G p.D490G missense 0.00000824●●●●●●
256. 6604764 c.1772A>G p.N591S missense 0.00000824●●●●●●
257. 6616851 c.1010A>G p.E337G missense 0.00000824●●●●●●
258. 6600259 c.2084G>A p.R695Q missense 0.00000824●●●●●●
259. 6600208 c.2135A>G p.K712R missense 0.00000824●●●●●●
260. 6632044 c.301G>A p.E101K missense 0.00000824●●●●●●
261. 6609952 c.1310A>G p.K437R missense 0.00000824●●●●●●
262. 6611103 c.1191C>A p.D397E missense 0.00000824●●●●●●
263. 6600119 c.2224A>G p.N742D missense 0.00000824●●●●●●
264. 6607428 c.1393C>T p.P465S missense 0.00000824●●●●●●
265. 6600050 c.2293C>A p.P765T missense 0.00000824●●●●●●
266. 6632818 c.148C>T p.H50Y missense 0.00000824●●●●●●
267. 6622137 c.614C>T p.P205L missense 0.00000824●●●●●●
268. 6632781 c.185A>G p.E62G missense 0.00000824●●●●●●
269. 6605449 c.1674G>C p.R558S missense 0.00000824●●●●●●
270. 6600227 c.2116G>A p.V706I missense 0.00000824●●●●●●

* 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.