NUP155 missense variants in ExAC

NUP155 gene summary
NUP155 variants in

The table below lists the NUP155 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. 37309350 c.2648G>A p.R883H missense 0.00259031●●●●●●
2. 37371036 c.44C>T p.S15F missense 0.00107175●●●●●●
3. 37341234 c.1204G>A p.V402M missense 0.00081098●●●●●●
4. 37337981 c.1286A>T p.D429V missense 0.00076748●●●●●●
5. 37337963 c.1304A>G p.N435S missense 0.00071762●●●●●●
6. 37331792 c.1624C>T p.H542Y missense 0.00055155●●●●●●
7. 37303392 c.3287G>A p.R1096H missense 0.00049432●●●●●●
8. 37314379 c.2357G>A p.R786Q missense 0.00038758●●●●●●
9. 37328495 c.1841A>G p.Y614C missense 0.00031240●●●●●●
10. 37370926 c.154C>G p.P52A missense 0.00024713●●●●●●
11. 37349275 c.902A>G p.Q301R missense 0.00021050●●●●●●
12. 37310749 c.2533T>C p.Y845H missense 0.00018146●●●●●●
13. 37292081 c.4097C>G p.S1366C missense 0.00018125●●●●●●
14. 37350263 c.828T>G p.D276E missense 0.00014828●●●●●●
15. 37318146 c.2249G>A p.R750H missense 0.00012356●●●●●●
16. 37364475 c.169G>A p.V57I missense 0.00011677●●●●●●
17. 37342700 c.1044T>G p.I348M missense 0.00011603●●●●●●
18. 37333695 c.1388C>T p.A463V missense 0.00011583●●●●●●
19. 37292118 c.4060C>G p.L1354V missense 0.00009887●●●●●●
20. 37330205 c.1659T>G p.I553M missense 0.00008853●●●●●●
21. 37309293 c.2705A>C p.K902T missense 0.00008342●●●●●●
22. 37294496 c.3865A>G p.M1289V missense 0.00007585●●●●●●
23. 37351423 c.592A>G p.M198V missense 0.00007424●●●●●●
24. 37305164 c.3052C>A p.H1018N missense 0.00007414●●●●●●
25. 37314323 c.2413A>G p.I805V missense 0.00006625●●●●●●
26. 37349296 c.881G>T p.R294L missense 0.00006217●●●●●●
27. 37349341 c.836T>C p.I279T missense 0.00005887●●●●●●
28. 37324190 c.2111G>T p.C704F missense 0.00005826●●●●●●
29. 37324155 c.2146G>C p.G716R missense 0.00005788●●●●●●
30. 37310686 c.2596C>G p.L866V missense 0.00005781●●●●●●
31. 37292013 c.4165C>T p.R1389W missense 0.00005772●●●●●●
32. 37342734 c.1010C>T p.S337F missense 0.00005044●●●●●●
33. 37298984 c.3779G>A p.R1260H missense 0.00005021●●●●●●
34. 37351442 c.573T>A p.N191K missense 0.00004956●●●●●●
35. 37337934 c.1333A>G p.M445V missense 0.00004952●●●●●●
36. 37304917 c.3086G>A p.R1029Q missense 0.00004952●●●●●●
37. 37341284 c.1154T>C p.L385P missense 0.00004950●●●●●●
38. 37292079 c.4099A>G p.M1367V missense 0.00004943●●●●●●
39. 37328477 c.1859T>G p.L620W missense 0.00004223●●●●●●
40. 37309255 c.2743A>G p.N915D missense 0.00004142●●●●●●
41. 37310740 c.2542G>C p.D848H missense 0.00004124●●●●●●
42. 37292132 c.4046T>G p.F1349C missense 0.00004121●●●●●●
43. 37299576 c.3656C>T p.T1219I missense 0.00004119●●●●●●
44. 37299615 c.3617T>G p.I1206S missense 0.00004119●●●●●●
45. 37328466 c.1870T>C p.S624P missense 0.00003393●●●●●●
46. 37342737 c.1007G>A p.R336H missense 0.00003374●●●●●●
47. 37364421 c.223G>A p.V75I missense 0.00003307●●●●●●
48. 37331869 c.1547C>T p.P516L missense 0.00003306●●●●●●
49. 37331825 c.1591G>A p.D531N missense 0.00003305●●●●●●
50. 37341296 c.1142G>A p.R381Q missense 0.00003300●●●●●●
51. 37310761 c.2521C>T p.L841F missense 0.00003299●●●●●●
52. 37329309 c.1796G>A p.G599E missense 0.00003297●●●●●●
53. 37327809 c.1946T>C p.M649T missense 0.00003296●●●●●●
54. 37327803 c.1952G>C p.C651S missense 0.00003296●●●●●●
55. 37307498 c.2804C>T p.T935M missense 0.00003296●●●●●●
56. 37348614 c.988A>T p.I330F missense 0.00003295●●●●●●
57. 37333593 c.1490C>T p.P497L missense 0.00003295●●●●●●
58. 37294443 c.3918G>C p.L1306F missense 0.00002938●●●●●●
59. 37330228 c.1636C>G p.Q546E missense 0.00002932●●●●●●
60. 37299074 c.3689G>C p.S1230T missense 0.00002588●●●●●●
61. 37342738 c.1006C>G p.R336G missense 0.00002533●●●●●●
62. 37331790 c.1626T>G p.H542Q missense 0.00002513●●●●●●
63. 37371054 c.26C>T p.A9V missense 0.00002510●●●●●●
64. 37333720 c.1363G>A p.D455N missense 0.00002506●●●●●●
65. 37309252 c.2746G>C p.V916L missense 0.00002485●●●●●●
66. 37293074 c.3944A>G p.N1315S missense 0.00002479●●●●●●
67. 37305311 c.2905T>G p.L969V missense 0.00002478●●●●●●
68. 37331850 c.1566T>A p.H522Q missense 0.00002478●●●●●●
69. 37293036 c.3982C>G p.H1328D missense 0.00002477●●●●●●
70. 37310803 c.2479G>A p.V827I missense 0.00002476●●●●●●
71. 37341317 c.1121C>A p.P374Q missense 0.00002476●●●●●●
72. 37304884 c.3119A>G p.Y1040C missense 0.00002475●●●●●●
73. 37292012 c.4166G>A p.R1389Q missense 0.00002474●●●●●●
74. 37329297 c.1808A>G p.Y603C missense 0.00002474●●●●●●
75. 37326035 c.2059A>G p.I687V missense 0.00002473●●●●●●
76. 37305283 c.2933C>T p.T978I missense 0.00002473●●●●●●
77. 37303452 c.3227G>A p.R1076H missense 0.00002473●●●●●●
78. 37299636 c.3596C>A p.A1199E missense 0.00002473●●●●●●
79. 37351387 c.628A>G p.T210A missense 0.00002473●●●●●●
80. 37303447 c.3232A>G p.M1078V missense 0.00002473●●●●●●
81. 37292108 c.4070T>C p.V1357A missense 0.00002472●●●●●●
82. 37329339 c.1766C>T p.P589L missense 0.00002472●●●●●●
83. 37303365 c.3314A>G p.H1105R missense 0.00002472●●●●●●
84. 37350361 c.730G>A p.A244T missense 0.00002472●●●●●●
85. 37303393 c.3286C>T p.R1096C missense 0.00002472●●●●●●
86. 37318135 c.2260G>A p.G754R missense 0.00002471●●●●●●
87. 37294432 c.3929G>T p.R1310L missense 0.00002210●●●●●●
88. 37294460 c.3901G>A p.E1301K missense 0.00002173●●●●●●
89. 37330224 c.1640C>G p.A547G missense 0.00001908●●●●●●
90. 37330153 c.1711C>T p.R571W missense 0.00001748●●●●●●
91. 37330192 c.1672A>G p.T558A missense 0.00001729●●●●●●
92. 37309338 c.2660T>G p.V887G missense 0.00001718●●●●●●
93. 37294481 c.3880G>A p.V1294I missense 0.00001716●●●●●●
94. 37303516 c.3163G>A p.V1055I missense 0.00001715●●●●●●
95. 37328516 c.1820C>T p.P607L missense 0.00001713●●●●●●
96. 37299069 c.3694A>C p.S1232R missense 0.00001707●●●●●●
97. 37328508 c.1828A>G p.S610G missense 0.00001700●●●●●●
98. 37294508 c.3853G>A p.V1285I missense 0.00001673●●●●●●
99. 37298985 c.3778C>T p.R1260C missense 0.00001671●●●●●●
100. 37299050 c.3713C>T p.S1238L missense 0.00001669●●●●●●
101. 37364361 c.283G>C p.E95Q missense 0.00001668●●●●●●
102. 37294513 c.3848G>T p.G1283V missense 0.00001668●●●●●●
103. 37352929 c.466A>G p.I156V missense 0.00001667●●●●●●
104. 37352920 c.475C>T p.P159S missense 0.00001661●●●●●●
105. 37342697 c.1047A>C p.E349D missense 0.00001657●●●●●●
106. 37309254 c.2744A>G p.N915S missense 0.00001657●●●●●●
107. 37351452 c.563G>T p.G188V missense 0.00001656●●●●●●
108. 37324121 c.2180T>G p.F727C missense 0.00001655●●●●●●
109. 37310665 c.2617A>G p.I873V missense 0.00001654●●●●●●
110. 37341344 c.1094G>C p.G365A missense 0.00001654●●●●●●
111. 37364436 c.208C>T p.P70S missense 0.00001653●●●●●●
112. 37324150 c.2151G>T p.L717F missense 0.00001653●●●●●●
113. 37310679 c.2603G>C p.S868T missense 0.00001652●●●●●●
114. 37302886 c.3442A>G p.M1148V missense 0.00001652●●●●●●
115. 37331854 c.1562G>A p.R521K missense 0.00001652●●●●●●
116. 37352892 c.503C>T p.A168V missense 0.00001652●●●●●●
117. 37329378 c.1727A>G p.Y576C missense 0.00001652●●●●●●
118. 37310700 c.2582A>G p.D861G missense 0.00001651●●●●●●
119. 37370997 c.83G>A p.R28Q missense 0.00001650●●●●●●
120. 37314388 c.2348A>C p.Q783P missense 0.00001650●●●●●●
121. 37304905 c.3098A>G p.E1033G missense 0.00001650●●●●●●
122. 37341281 c.1157C>T p.T386M missense 0.00001650●●●●●●
123. 37341297 c.1141C>T p.R381W missense 0.00001650●●●●●●
124. 37314389 c.2347C>A p.Q783K missense 0.00001650●●●●●●
125. 37310769 c.2513T>C p.I838T missense 0.00001650●●●●●●
126. 37310734 c.2548G>A p.A850T missense 0.00001650●●●●●●
127. 37370986 c.94C>T p.R32C missense 0.00001649●●●●●●
128. 37303453 c.3226C>T p.R1076C missense 0.00001649●●●●●●
129. 37350362 c.729A>T p.E243D missense 0.00001649●●●●●●
130. 37370992 c.88A>G p.I30V missense 0.00001649●●●●●●
131. 37292024 c.4154C>A p.A1385D missense 0.00001649●●●●●●
132. 37350367 c.724G>A p.A242T missense 0.00001649●●●●●●
133. 37302928 c.3400A>G p.I1134V missense 0.00001648●●●●●●
134. 37333648 c.1435G>T p.D479Y missense 0.00001648●●●●●●
135. 37327741 c.2014C>T p.R672W missense 0.00001648●●●●●●
136. 37307472 c.2830G>T p.G944C missense 0.00001648●●●●●●
137. 37358246 c.400C>T p.L134F missense 0.00001648●●●●●●
138. 37299621 c.3611C>T p.A1204V missense 0.00001648●●●●●●
139. 37329339 c.1766C>G p.P589R missense 0.00001648●●●●●●
140. 37302969 c.3359G>A p.R1120Q missense 0.00001648●●●●●●
141. 37303432 c.3247C>T p.R1083W missense 0.00001648●●●●●●
142. 37302970 c.3358C>G p.R1120G missense 0.00001648●●●●●●
143. 37305236 c.2980A>C p.S994R missense 0.00001648●●●●●●
144. 37299604 c.3628G>A p.G1210S missense 0.00001648●●●●●●
145. 37350360 c.731C>T p.A244V missense 0.00001648●●●●●●
146. 37327803 c.1952G>T p.C651F missense 0.00001648●●●●●●
147. 37307504 c.2798C>G p.S933C missense 0.00001648●●●●●●
148. 37329334 c.1771C>T p.P591S missense 0.00001648●●●●●●
149. 37292124 c.4054C>T p.L1352F missense 0.00001648●●●●●●
150. 37303401 c.3278A>G p.N1093S missense 0.00001648●●●●●●
151. 37299621 c.3611C>G p.A1204G missense 0.00001648●●●●●●
152. 37301644 c.3456G>T p.R1152S missense 0.00001648●●●●●●
153. 37303423 c.3256G>A p.E1086K missense 0.00001648●●●●●●
154. 37327831 c.1924C>T p.P642S missense 0.00001648●●●●●●
155. 37318147 c.2248C>T p.R750C missense 0.00001647●●●●●●
156. 37364051 c.331C>T p.P111S missense 0.00001647●●●●●●
157. 37301633 c.3467A>T p.Q1156L missense 0.00001647●●●●●●
158. 37294459 c.3902A>T p.E1301V missense 0.00001098●●●●●●
159. 37294460 c.3901G>C p.E1301Q missense 0.00001087●●●●●●
160. 37294472 c.3889C>T p.P1297S missense 0.00000937●●●●●●
161. 37330216 c.1648A>G p.T550A missense 0.00000918●●●●●●
162. 37333735 c.1348A>G p.M450V missense 0.00000911●●●●●●
163. 37309362 c.2636A>G p.E879G missense 0.00000905●●●●●●
164. 37309351 c.2647C>T p.R883C missense 0.00000875●●●●●●
165. 37299077 c.3686T>G p.L1229W missense 0.00000871●●●●●●
166. 37309347 c.2651C>G p.S884C missense 0.00000870●●●●●●
167. 37330194 c.1670C>G p.S557C missense 0.00000869●●●●●●
168. 37309344 c.2654G>A p.R885Q missense 0.00000866●●●●●●
169. 37330164 c.1700C>A p.A567D missense 0.00000863●●●●●●
170. 37330165 c.1699G>C p.A567P missense 0.00000862●●●●●●
171. 37330177 c.1687A>G p.R563G missense 0.00000859●●●●●●
172. 37309339 c.2659G>A p.V887I missense 0.00000859●●●●●●
173. 37341197 c.1241G>A p.S414N missense 0.00000858●●●●●●
174. 37341197 c.1241G>T p.S414I missense 0.00000858●●●●●●
175. 37303516 c.3163G>C p.V1055L missense 0.00000857●●●●●●
176. 37294483 c.3878G>C p.G1293A missense 0.00000855●●●●●●
177. 37341198 c.1240A>G p.S414G missense 0.00000855●●●●●●
178. 37294483 c.3878G>A p.G1293E missense 0.00000855●●●●●●
179. 37328514 c.1822G>C p.V608L missense 0.00000855●●●●●●
180. 37342744 c.1000A>G p.I334V missense 0.00000854●●●●●●
181. 37342744 c.1000A>T p.I334F missense 0.00000854●●●●●●
182. 37309329 c.2669A>G p.K890R missense 0.00000851●●●●●●
183. 37294486 c.3875T>C p.I1292T missense 0.00000851●●●●●●
184. 37328465 c.1871C>G p.S624C missense 0.00000849●●●●●●
185. 37342741 c.1003G>A p.D335N missense 0.00000848●●●●●●
186. 37328468 c.1868C>T p.P623L missense 0.00000847●●●●●●
187. 37364349 c.295C>T p.H99Y missense 0.00000846●●●●●●
188. 37299063 c.3700A>C p.T1234P missense 0.00000846●●●●●●
189. 37333726 c.1357G>T p.G453C missense 0.00000845●●●●●●
190. 37328484 c.1852T>G p.S618A missense 0.00000844●●●●●●
191. 37371075 c.5C>T p.P2L missense 0.00000843●●●●●●
192. 37371069 c.11C>T p.S4F missense 0.00000841●●●●●●
193. 37324095 c.2206A>G p.N736D missense 0.00000839●●●●●●
194. 37303504 c.3175T>C p.F1059L missense 0.00000836●●●●●●
195. 37294566 c.3795T>G p.D1265E missense 0.00000836●●●●●●
196. 37324098 c.2203C>T p.P735S missense 0.00000835●●●●●●
197. 37294561 c.3800T>C p.I1267T missense 0.00000835●●●●●●
198. 37341212 c.1226A>T p.H409L missense 0.00000835●●●●●●
199. 37352931 c.464G>A p.G155D missense 0.00000835●●●●●●
200. 37309290 c.2708A>C p.E903A missense 0.00000833●●●●●●
201. 37298991 c.3772A>G p.T1258A missense 0.00000833●●●●●●
202. 37294547 c.3814G>C p.E1272Q missense 0.00000832●●●●●●
203. 37309285 c.2713C>A p.Q905K missense 0.00000832●●●●●●
204. 37342720 c.1024A>G p.I342V missense 0.00000832●●●●●●
205. 37298996 c.3767C>T p.A1256V missense 0.00000831●●●●●●
206. 37364367 c.277C>G p.L93V missense 0.00000831●●●●●●
207. 37342663 c.1081G>A p.V361I missense 0.00000831●●●●●●
208. 37331897 c.1519G>T p.G507W missense 0.00000830●●●●●●
209. 37309272 c.2726A>C p.N909T missense 0.00000830●●●●●●
210. 37342710 c.1034T>C p.I345T missense 0.00000830●●●●●●
211. 37331897 c.1519G>A p.G507R missense 0.00000830●●●●●●
212. 37314424 c.2312A>T p.Q771L missense 0.00000830●●●●●●
213. 37352919 c.476C>T p.P159L missense 0.00000830●●●●●●
214. 37364456 c.188T>C p.M63T missense 0.00000829●●●●●●
215. 37342701 c.1043T>C p.I348T missense 0.00000829●●●●●●
216. 37371028 c.52G>T p.A18S missense 0.00000829●●●●●●
217. 37333704 c.1379C>T p.A460V missense 0.00000829●●●●●●
218. 37364457 c.187A>G p.M63V missense 0.00000829●●●●●●
219. 37351458 c.557G>A p.G186D missense 0.00000829●●●●●●
220. 37364454 c.190G>A p.D64N missense 0.00000829●●●●●●
221. 37324175 c.2126C>T p.S709L missense 0.00000829●●●●●●
222. 37371027 c.53C>G p.A18G missense 0.00000829●●●●●●
223. 37364376 c.268C>T p.P90S missense 0.00000829●●●●●●
224. 37342686 c.1058C>T p.S353L missense 0.00000828●●●●●●
225. 37331886 c.1530G>A p.M510I missense 0.00000828●●●●●●
226. 37324166 c.2135A>G p.Q712R missense 0.00000828●●●●●●
227. 37342692 c.1052C>T p.S351F missense 0.00000828●●●●●●
228. 37331813 c.1603A>G p.I535V missense 0.00000828●●●●●●
229. 37299018 c.3745G>T p.V1249F missense 0.00000828●●●●●●
230. 37331887 c.1529T>C p.M510T missense 0.00000828●●●●●●
231. 37299011 c.3752T>C p.L1251P missense 0.00000828●●●●●●
232. 37364451 c.193T>C p.Y65H missense 0.00000828●●●●●●
233. 37309248 c.2750G>A p.C917Y missense 0.00000828●●●●●●
234. 37324173 c.2128G>A p.V710M missense 0.00000828●●●●●●
235. 37371024 c.56T>A p.L19Q missense 0.00000828●●●●●●
236. 37299012 c.3751C>T p.L1251F missense 0.00000828●●●●●●
237. 37341233 c.1205T>C p.V402A missense 0.00000828●●●●●●
238. 37324155 c.2146G>T p.G716C missense 0.00000827●●●●●●
239. 37324146 c.2155G>C p.E719Q missense 0.00000827●●●●●●
240. 37299664 c.3568G>A p.G1190R missense 0.00000827●●●●●●
241. 37341236 c.1202C>T p.T401I missense 0.00000827●●●●●●
242. 37364397 c.247T>C p.S83P missense 0.00000827●●●●●●
243. 37352906 c.489C>A p.H163Q missense 0.00000827●●●●●●
244. 37314328 c.2408T>G p.F803C missense 0.00000827●●●●●●
245. 37371016 c.64G>C p.A22P missense 0.00000827●●●●●●
246. 37310667 c.2615C>T p.A872V missense 0.00000827●●●●●●
247. 37324127 c.2174C>T p.S725F missense 0.00000827●●●●●●
248. 37351446 c.569T>G p.L190R missense 0.00000827●●●●●●
249. 37314416 c.2320G>A p.E774K missense 0.00000827●●●●●●
250. 37341240 c.1198T>G p.S400A missense 0.00000827●●●●●●
251. 37364409 c.235C>T p.P79S missense 0.00000827●●●●●●
252. 37352910 c.485G>A p.R162Q missense 0.00000827●●●●●●
253. 37331822 c.1594G>A p.G532R missense 0.00000827●●●●●●
254. 37324154 c.2147G>A p.G716D missense 0.00000827●●●●●●
255. 37351449 c.566T>C p.V189A missense 0.00000827●●●●●●
256. 37310668 c.2614G>T p.A872S missense 0.00000827●●●●●●
257. 37324128 c.2173T>G p.S725A missense 0.00000827●●●●●●
258. 37337924 c.1343C>T p.T448I missense 0.00000826●●●●●●
259. 37341326 c.1112G>C p.S371T missense 0.00000826●●●●●●
260. 37352887 c.508C>T p.P170S missense 0.00000826●●●●●●
261. 37341258 c.1180C>G p.P394A missense 0.00000826●●●●●●
262. 37310809 c.2473G>A p.D825N missense 0.00000826●●●●●●
263. 37293054 c.3964C>T p.H1322Y missense 0.00000826●●●●●●
264. 37303479 c.3200T>C p.M1067T missense 0.00000826●●●●●●
265. 37293020 c.3998G>A p.R1333K missense 0.00000826●●●●●●
266. 37331828 c.1588G>A p.G530R missense 0.00000826●●●●●●
267. 37341260 c.1178C>T p.P393L missense 0.00000826●●●●●●
268. 37310680 c.2602A>G p.S868G missense 0.00000826●●●●●●
269. 37304858 c.3145G>T p.A1049S missense 0.00000826●●●●●●
270. 37327875 c.1880T>C p.I627T missense 0.00000826●●●●●●
271. 37293024 c.3994A>G p.I1332V missense 0.00000826●●●●●●
272. 37331837 c.1579A>T p.N527Y missense 0.00000826●●●●●●
273. 37310683 c.2599T>C p.Y867H missense 0.00000826●●●●●●
274. 37364435 c.209C>T p.P70L missense 0.00000826●●●●●●
275. 37341254 c.1184G>A p.G395E missense 0.00000826●●●●●●
276. 37338003 c.1264G>A p.A422T missense 0.00000826●●●●●●
277. 37310698 c.2584A>G p.I862V missense 0.00000826●●●●●●
278. 37304849 c.3154C>G p.L1052V missense 0.00000826●●●●●●
279. 37341278 c.1160T>C p.L387P missense 0.00000825●●●●●●
280. 37329301 c.1804G>A p.V602I missense 0.00000825●●●●●●
281. 37337969 c.1298G>C p.C433S missense 0.00000825●●●●●●
282. 37351432 c.583T>C p.S195P missense 0.00000825●●●●●●
283. 37314401 c.2335C>G p.Q779E missense 0.00000825●●●●●●
284. 37351299 c.716C>A p.A239D missense 0.00000825●●●●●●
285. 37329292 c.1813A>G p.S605G missense 0.00000825●●●●●●
286. 37310709 c.2573A>G p.H858R missense 0.00000825●●●●●●
287. 37337932 c.1335G>T p.M445I missense 0.00000825●●●●●●
288. 37327867 c.1888C>T p.P630S missense 0.00000825●●●●●●
289. 37337942 c.1325A>G p.Q442R missense 0.00000825●●●●●●
290. 37351405 c.610C>A p.P204T missense 0.00000825●●●●●●
291. 37341289 c.1149T>A p.N383K missense 0.00000825●●●●●●
292. 37337971 c.1296G>C p.W432C missense 0.00000825●●●●●●
293. 37310790 c.2492A>G p.K831R missense 0.00000825●●●●●●
294. 37351300 c.715G>A p.A239T missense 0.00000825●●●●●●
295. 37310771 c.2511A>C p.L837F missense 0.00000825●●●●●●
296. 37310731 c.2551G>A p.A851T missense 0.00000825●●●●●●
297. 37337951 c.1316T>C p.F439S missense 0.00000825●●●●●●
298. 37341267 c.1171C>T p.R391C missense 0.00000825●●●●●●
299. 37314365 c.2371G>C p.A791P missense 0.00000825●●●●●●
300. 37351411 c.604C>T p.P202S missense 0.00000825●●●●●●
301. 37341291 c.1147A>G p.N383D missense 0.00000825●●●●●●
302. 37304871 c.3132A>G p.I1044M missense 0.00000825●●●●●●
303. 37337981 c.1286A>G p.D429G missense 0.00000825●●●●●●
304. 37333674 c.1409A>G p.D470G missense 0.00000825●●●●●●
305. 37314398 c.2338G>A p.A780T missense 0.00000825●●●●●●
306. 37305304 c.2912G>A p.S971N missense 0.00000825●●●●●●
307. 37352878 c.517A>G p.I173V missense 0.00000825●●●●●●
308. 37310785 c.2497C>A p.L833I missense 0.00000825●●●●●●
309. 37337957 c.1310A>T p.D437V missense 0.00000825●●●●●●
310. 37327863 c.1892C>T p.A631V missense 0.00000825●●●●●●
311. 37304912 c.3091A>C p.K1031Q missense 0.00000825●●●●●●
312. 37303470 c.3209T>G p.V1070G missense 0.00000825●●●●●●
313. 37351405 c.610C>G p.P204A missense 0.00000825●●●●●●
314. 37341291 c.1147A>C p.N383H missense 0.00000825●●●●●●
315. 37314367 c.2369A>G p.Q790R missense 0.00000825●●●●●●
316. 37299651 c.3581A>T p.D1194V missense 0.00000825●●●●●●
317. 37364038 c.344C>G p.A115G missense 0.00000824●●●●●●
318. 37333585 c.1498T>C p.F500L missense 0.00000824●●●●●●
319. 37307519 c.2783G>T p.G928V missense 0.00000824●●●●●●
320. 37302951 c.3377A>G p.K1126R missense 0.00000824●●●●●●
321. 37307502 c.2800C>G p.L934V missense 0.00000824●●●●●●
322. 37307423 c.2879T>C p.V960A missense 0.00000824●●●●●●
323. 37301567 c.3533T>G p.L1178R missense 0.00000824●●●●●●
324. 37299591 c.3641C>T p.P1214L missense 0.00000824●●●●●●
325. 37351398 c.617A>G p.Y206C missense 0.00000824●●●●●●
326. 37351356 c.659C>G p.S220C missense 0.00000824●●●●●●
327. 37305214 c.3002C>T p.P1001L missense 0.00000824●●●●●●
328. 37350339 c.752G>A p.C251Y missense 0.00000824●●●●●●
329. 37350312 c.779C>T p.S260L missense 0.00000824●●●●●●
330. 37370947 c.133G>A p.E45K missense 0.00000824●●●●●●
331. 37305247 c.2969C>A p.P990H missense 0.00000824●●●●●●
332. 37364062 c.320G>A p.G107D missense 0.00000824●●●●●●
333. 37348671 c.931G>A p.G311R missense 0.00000824●●●●●●
334. 37327792 c.1963C>G p.P655A missense 0.00000824●●●●●●
335. 37302990 c.3338A>T p.Q1113L missense 0.00000824●●●●●●
336. 37348694 c.908A>G p.Y303C missense 0.00000824●●●●●●
337. 37307474 c.2828A>C p.Q943P missense 0.00000824●●●●●●
338. 37292046 c.4132G>A p.G1378R missense 0.00000824●●●●●●
339. 37364026 c.356T>C p.I119T missense 0.00000824●●●●●●
340. 37370958 c.122C>A p.P41Q missense 0.00000824●●●●●●
341. 37329310 c.1795G>A p.G599R missense 0.00000824●●●●●●
342. 37370976 c.104A>G p.Q35R missense 0.00000824●●●●●●
343. 37327842 c.1913C>T p.A638V missense 0.00000824●●●●●●
344. 37303452 c.3227G>T p.R1076L missense 0.00000824●●●●●●
345. 37350276 c.815C>T p.T272M missense 0.00000824●●●●●●
346. 37350272 c.819C>G p.F273L missense 0.00000824●●●●●●
347. 37302933 c.3395C>T p.S1132L missense 0.00000824●●●●●●
348. 37292120 c.4058G>A p.C1353Y missense 0.00000824●●●●●●
349. 37348614 c.988A>C p.I330L missense 0.00000824●●●●●●
350. 37333602 c.1481T>C p.M494T missense 0.00000824●●●●●●
351. 37333576 c.1507C>T p.L503F missense 0.00000824●●●●●●
352. 37307519 c.2783G>C p.G928A missense 0.00000824●●●●●●
353. 37305230 c.2986C>A p.P996T missense 0.00000824●●●●●●
354. 37318149 c.2246T>A p.M749K missense 0.00000824●●●●●●
355. 37307424 c.2878G>A p.V960I missense 0.00000824●●●●●●
356. 37307409 c.2893T>C p.F965L missense 0.00000824●●●●●●
357. 37301589 c.3511G>A p.V1171I missense 0.00000824●●●●●●
358. 37329342 c.1763T>C p.L588P missense 0.00000824●●●●●●
359. 37327764 c.1991A>G p.N664S missense 0.00000824●●●●●●
360. 37305178 c.3038A>G p.N1013S missense 0.00000824●●●●●●
361. 37327741 c.2014C>G p.R672G missense 0.00000824●●●●●●
362. 37307486 c.2816A>G p.K939R missense 0.00000824●●●●●●
363. 37350319 c.772A>G p.K258E missense 0.00000824●●●●●●
364. 37329339 c.1766C>A p.P589Q missense 0.00000824●●●●●●
365. 37348685 c.917G>A p.G306E missense 0.00000824●●●●●●
366. 37333652 c.1431C>A p.N477K missense 0.00000824●●●●●●
367. 37307487 c.2815A>G p.K939E missense 0.00000824●●●●●●
368. 37302919 c.3409G>A p.D1137N missense 0.00000824●●●●●●
369. 37292055 c.4123G>A p.A1375T missense 0.00000824●●●●●●
370. 37363999 c.383A>G p.Y128C missense 0.00000824●●●●●●
371. 37358201 c.445C>T p.L149F missense 0.00000824●●●●●●
372. 37305290 c.2926A>G p.T976A missense 0.00000824●●●●●●
373. 37301550 c.3550G>T p.D1184Y missense 0.00000824●●●●●●
374. 37370964 c.116T>G p.M39R missense 0.00000824●●●●●●
375. 37351374 c.641A>G p.Y214C missense 0.00000824●●●●●●
376. 37327855 c.1900A>C p.T634P missense 0.00000824●●●●●●
377. 37303455 c.3224T>C p.V1075A missense 0.00000824●●●●●●
378. 37350286 c.805C>A p.L269I missense 0.00000824●●●●●●
379. 37302987 c.3341G>T p.R1114L missense 0.00000824●●●●●●
380. 37307412 c.2890G>T p.A964S missense 0.00000824●●●●●●
381. 37370953 c.127C>T p.L43F missense 0.00000824●●●●●●
382. 37364074 c.308A>C p.N103T missense 0.00000824●●●●●●
383. 37302936 c.3392T>C p.I1131T missense 0.00000824●●●●●●
384. 37364051 c.331C>G p.P111A missense 0.00000824●●●●●●
385. 37348635 c.967A>G p.I323V missense 0.00000824●●●●●●
386. 37333603 c.1480A>G p.M494V missense 0.00000824●●●●●●
387. 37327780 c.1975T>C p.Y659H missense 0.00000824●●●●●●
388. 37333579 c.1504C>T p.L502F missense 0.00000824●●●●●●
389. 37351372 c.643C>G p.L215V missense 0.00000824●●●●●●
390. 37318166 c.2229G>T p.Q743H missense 0.00000824●●●●●●
391. 37307438 c.2864C>T p.P955L missense 0.00000824●●●●●●
392. 37301637 c.3463C>A p.L1155I missense 0.00000824●●●●●●
393. 37301612 c.3488G>A p.R1163K missense 0.00000824●●●●●●
394. 37305272 c.2944C>G p.L982V missense 0.00000824●●●●●●
395. 37305181 c.3035G>A p.S1012N missense 0.00000824●●●●●●
396. 37299613 c.3619C>A p.H1207N missense 0.00000824●●●●●●
397. 37370937 c.143T>C p.M48T missense 0.00000824●●●●●●
398. 37301609 c.3491A>G p.Q1164R missense 0.00000824●●●●●●
399. 37348692 c.910G>T p.D304Y missense 0.00000824●●●●●●
400. 37303446 c.3233T>G p.M1078R missense 0.00000824●●●●●●
401. 37303407 c.3272T>G p.F1091C missense 0.00000824●●●●●●
402. 37307509 c.2793A>C p.E931D missense 0.00000824●●●●●●
403. 37302921 c.3407C>T p.A1136V missense 0.00000824●●●●●●
404. 37364000 c.382T>C p.Y128H missense 0.00000824●●●●●●
405. 37301551 c.3549G>T p.M1183I missense 0.00000824●●●●●●
406. 37307423 c.2879T>G p.V960G missense 0.00000824●●●●●●
407. 37351342 c.673A>G p.R225G missense 0.00000824●●●●●●
408. 37329337 c.1768C>A p.P590T missense 0.00000824●●●●●●
409. 37305159 c.3057T>G p.H1019Q missense 0.00000824●●●●●●
410. 37350300 c.791T>G p.L264R missense 0.00000824●●●●●●
411. 37350335 c.756G>T p.R252S missense 0.00000824●●●●●●
412. 37302990 c.3338A>G p.Q1113R missense 0.00000824●●●●●●
413. 37307463 c.2839C>T p.L947F missense 0.00000824●●●●●●
414. 37364083 c.299T>C p.M100T missense 0.00000824●●●●●●
415. 37364054 c.328C>G p.P110A missense 0.00000824●●●●●●
416. 37348647 c.955T>G p.S319A missense 0.00000824●●●●●●
417. 37333642 c.1441A>G p.I481V missense 0.00000824●●●●●●
418. 37327785 c.1970T>C p.I657T missense 0.00000824●●●●●●
419. 37358242 c.404C>T p.A135V missense 0.00000824●●●●●●
420. 37301631 c.3469A>T p.I1157L missense 0.00000824●●●●●●
421. 37307469 c.2833C>T p.L945F missense 0.00000824●●●●●●
422. 37305274 c.2942A>G p.E981G missense 0.00000824●●●●●●
423. 37370970 c.110A>T p.D37V missense 0.00000824●●●●●●
424. 37370949 c.131C>T p.S44F missense 0.00000824●●●●●●
425. 37303005 c.3323A>G p.E1108G missense 0.00000824●●●●●●
426. 37329303 c.1802C>T p.P601L 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.