UNC45B missense variants in ExAC

UNC45B gene summary
UNC45B variants in

The table below lists the UNC45B 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. 33476001 c.178G>A p.V60I missense 0.06698135●●●●●●
2. 33513337 c.2555T>A p.I852N missense 0.05591194●●●●●●
3. 33504530 c.2162G>A p.R721Q missense 0.01103410●●●●●●
4. 33507673 c.2357G>A p.C786Y missense 0.01065079●●●●●●
5. 33491164 c.1130A>G p.K377R missense 0.00922365●●●●●●
6. 33491133 c.1099C>T p.R367C missense 0.00459963●●●●●●
7. 33481717 c.596C>T p.A199V missense 0.00410730●●●●●●
8. 33504148 c.2144G>A p.R715Q missense 0.00405139●●●●●●
9. 33504563 c.2195A>C p.D732A missense 0.00348341●●●●●●
10. 33504124 c.2120C>T p.P707L missense 0.00132709●●●●●●
11. 33486562 c.977A>G p.N326S missense 0.00118534●●●●●●
12. 33495252 c.1324G>A p.V442M missense 0.00116515●●●●●●
13. 33497222 c.1637A>T p.D546V missense 0.00097281●●●●●●
14. 33504147 c.2143C>G p.R715G missense 0.00068625●●●●●●
15. 33475449 c.167C>T p.T56M missense 0.00049158●●●●●●
16. 33491143 c.1109C>T p.P370L missense 0.00040408●●●●●●
17. 33513429 c.2647G>A p.A883T missense 0.00037066●●●●●●
18. 33491149 c.1115G>A p.R372H missense 0.00031353●●●●●●
19. 33507655 c.2339C>T p.A780V missense 0.00029207●●●●●●
20. 33477159 c.298G>A p.V100M missense 0.00027252●●●●●●
21. 33491088 c.1054C>T p.R352C missense 0.00025541●●●●●●
22. 33497209 c.1624G>A p.A542T missense 0.00024048●●●●●●
23. 33482325 c.650T>A p.I217N missense 0.00019832●●●●●●
24. 33481629 c.508G>A p.A170T missense 0.00018951●●●●●●
25. 33477087 c.226G>A p.D76N missense 0.00018855●●●●●●
26. 33507648 c.2332C>T p.R778W missense 0.00018158●●●●●●
27. 33482369 c.694G>A p.V232M missense 0.00018122●●●●●●
28. 33510470 c.2404G>C p.G802R missense 0.00017351●●●●●●
29. 33491181 c.1147A>G p.I383V missense 0.00015868●●●●●●
30. 33491156 c.1122C>G p.H374Q missense 0.00015702●●●●●●
31. 33479923 c.393G>C p.Q131H missense 0.00015657●●●●●●
32. 33477096 c.235G>T p.A79S missense 0.00015233●●●●●●
33. 33495147 c.1219C>G p.Q407E missense 0.00015210●●●●●●
34. 33513360 c.2578G>A p.D860N missense 0.00014828●●●●●●
35. 33497237 c.1652A>G p.D551G missense 0.00014325●●●●●●
36. 33504147 c.2143C>T p.R715W missense 0.00014056●●●●●●
37. 33475355 c.73G>A p.A25T missense 0.00014040●●●●●●
38. 33481656 c.535A>G p.N179D missense 0.00014009●●●●●●
39. 33501295 c.1871G>A p.R624Q missense 0.00014002●●●●●●
40. 33479993 c.463C>T p.R155W missense 0.00012567●●●●●●
41. 33482365 c.690G>A p.M230I missense 0.00012356●●●●●●
42. 33507649 c.2333G>A p.R778Q missense 0.00011554●●●●●●
43. 33498350 c.1705A>G p.K569E missense 0.00011550●●●●●●
44. 33501307 c.1883C>G p.A628G missense 0.00011531●●●●●●
45. 33475326 c.44G>A p.R15Q missense 0.00010732●●●●●●
46. 33486441 c.856C>G p.L286V missense 0.00010720●●●●●●
47. 33498440 c.1795G>A p.A599T missense 0.00010714●●●●●●
48. 33513494 c.2712T>A p.D904E missense 0.00010708●●●●●●
49. 33486519 c.934C>T p.L312F missense 0.00009892●●●●●●
50. 33495111 c.1183A>G p.N395D missense 0.00009729●●●●●●
51. 33495379 c.1451T>C p.V484A missense 0.00009120●●●●●●
52. 33477142 c.281A>G p.D94G missense 0.00009089●●●●●●
53. 33482364 c.689T>C p.M230T missense 0.00009061●●●●●●
54. 33510506 c.2440G>A p.G814R missense 0.00008399●●●●●●
55. 33510482 c.2416C>A p.L806M missense 0.00007689●●●●●●
56. 33481746 c.625G>A p.G209S missense 0.00007539●●●●●●
57. 33491151 c.1117G>A p.D373N missense 0.00007431●●●●●●
58. 33503048 c.2026G>A p.G676S missense 0.00007415●●●●●●
59. 33513384 c.2602G>A p.G868S missense 0.00007414●●●●●●
60. 33513381 c.2599C>T p.R867W missense 0.00007414●●●●●●
61. 33497153 c.1568T>C p.I523T missense 0.00006703●●●●●●
62. 33497168 c.1583G>A p.R528Q missense 0.00006656●●●●●●
63. 33495228 c.1300C>T p.R434C missense 0.00006643●●●●●●
64. 33477187 c.326G>A p.R109Q missense 0.00006624●●●●●●
65. 33491160 c.1126C>T p.R376C missense 0.00006618●●●●●●
66. 33475367 c.85T>G p.Y29D missense 0.00006611●●●●●●
67. 33486447 c.862A>C p.S288R missense 0.00006594●●●●●●
68. 33510446 c.2380G>A p.V794I missense 0.00006209●●●●●●
69. 33495291 c.1363G>A p.A455T missense 0.00006189●●●●●●
70. 33495133 c.1205T>C p.V402A missense 0.00006027●●●●●●
71. 33481723 c.602G>A p.R201Q missense 0.00005797●●●●●●
72. 33504148 c.2144G>C p.R715P missense 0.00005788●●●●●●
73. 33477166 c.305G>A p.R102H missense 0.00005781●●●●●●
74. 33496943 c.1540T>C p.C514R missense 0.00005772●●●●●●
75. 33482340 c.665G>A p.R222Q missense 0.00005771●●●●●●
76. 33507619 c.2303A>G p.N768S missense 0.00005770●●●●●●
77. 33481614 c.493C>G p.L165V missense 0.00005767●●●●●●
78. 33481621 c.500G>A p.R167H missense 0.00005767●●●●●●
79. 33477112 c.251G>T p.C84F missense 0.00004994●●●●●●
80. 33496886 c.1483A>T p.T495S missense 0.00004958●●●●●●
81. 33477165 c.304C>G p.R102G missense 0.00004955●●●●●●
82. 33482448 c.773G>A p.R258Q missense 0.00004943●●●●●●
83. 33513523 c.2741C>T p.A914V missense 0.00004942●●●●●●
84. 33495364 c.1436A>G p.K479R missense 0.00004548●●●●●●
85. 33504629 c.2261G>A p.R754Q missense 0.00004383●●●●●●
86. 33510480 c.2414G>A p.R805Q missense 0.00004283●●●●●●
87. 33510487 c.2421G>C p.K807N missense 0.00004242●●●●●●
88. 33504621 c.2253C>A p.D751E missense 0.00004227●●●●●●
89. 33504614 c.2246G>A p.R749Q missense 0.00004181●●●●●●
90. 33495235 c.1307C>T p.T436M missense 0.00004166●●●●●●
91. 33513382 c.2600G>A p.R867Q missense 0.00004119●●●●●●
92. 33503024 c.2002G>A p.G668S missense 0.00004119●●●●●●
93. 33501285 c.1861C>T p.R621W missense 0.00004118●●●●●●
94. 33513402 c.2620A>C p.N874H missense 0.00004118●●●●●●
95. 33504529 c.2161C>T p.R721W missense 0.00004022●●●●●●
96. 33504545 c.2177T>C p.L726P missense 0.00003812●●●●●●
97. 33504578 c.2210A>G p.Y737C missense 0.00003807●●●●●●
98. 33477072 c.211G>C p.D71H missense 0.00003508●●●●●●
99. 33510471 c.2405G>A p.G802E missense 0.00003467●●●●●●
100. 33510479 c.2413C>T p.R805W missense 0.00003434●●●●●●
101. 33510519 c.2453A>G p.D818G missense 0.00003354●●●●●●
102. 33479994 c.464G>A p.R155Q missense 0.00003352●●●●●●
103. 33477106 c.245G>A p.R82Q missense 0.00003351●●●●●●
104. 33477186 c.325C>T p.R109W missense 0.00003311●●●●●●
105. 33475299 c.17C>T p.A6V missense 0.00003307●●●●●●
106. 33482469 c.794A>T p.E265V missense 0.00003300●●●●●●
107. 33507639 c.2323G>C p.D775H missense 0.00003299●●●●●●
108. 33504126 c.2122G>T p.D708Y missense 0.00003297●●●●●●
109. 33481639 c.518A>G p.E173G missense 0.00003296●●●●●●
110. 33503031 c.2009T>C p.I670T missense 0.00003295●●●●●●
111. 33482393 c.718G>A p.A240T missense 0.00003295●●●●●●
112. 33501268 c.1844A>G p.K615R missense 0.00003295●●●●●●
113. 33501315 c.1891A>G p.I631V missense 0.00003295●●●●●●
114. 33503009 c.1987A>G p.N663D missense 0.00003295●●●●●●
115. 33510600 c.2534T>A p.V845E missense 0.00002688●●●●●●
116. 33510567 c.2501C>T p.A834V missense 0.00002589●●●●●●
117. 33510563 c.2497G>A p.A833T missense 0.00002576●●●●●●
118. 33510534 c.2468C>T p.A823V missense 0.00002527●●●●●●
119. 33510528 c.2462A>T p.Q821L missense 0.00002520●●●●●●
120. 33497152 c.1567A>G p.I523V missense 0.00002515●●●●●●
121. 33479991 c.461A>T p.K154M missense 0.00002508●●●●●●
122. 33477109 c.248G>A p.R83Q missense 0.00002503●●●●●●
123. 33475422 c.140G>A p.R47Q missense 0.00002502●●●●●●
124. 33495231 c.1303G>A p.E435K missense 0.00002494●●●●●●
125. 33477115 c.254A>G p.Q85R missense 0.00002493●●●●●●
126. 33486408 c.823C>A p.L275M missense 0.00002488●●●●●●
127. 33496895 c.1492G>A p.G498S missense 0.00002477●●●●●●
128. 33486432 c.847C>A p.L283M missense 0.00002476●●●●●●
129. 33491148 c.1114C>T p.R372C missense 0.00002475●●●●●●
130. 33496947 c.1544G>T p.R515L missense 0.00002474●●●●●●
131. 33486529 c.944A>G p.H315R missense 0.00002474●●●●●●
132. 33482339 c.664C>T p.R222W missense 0.00002474●●●●●●
133. 33491134 c.1100G>A p.R367H missense 0.00002473●●●●●●
134. 33507615 c.2299G>A p.E767K missense 0.00002473●●●●●●
135. 33498441 c.1796C>T p.A599V missense 0.00002473●●●●●●
136. 33498440 c.1795G>T p.A599S missense 0.00002472●●●●●●
137. 33503004 c.1982G>T p.C661F missense 0.00002472●●●●●●
138. 33481620 c.499C>T p.R167C missense 0.00002472●●●●●●
139. 33486459 c.874T>A p.S292T missense 0.00002472●●●●●●
140. 33482387 c.712T>A p.S238T missense 0.00002471●●●●●●
141. 33513526 c.2744G>A p.R915Q missense 0.00002471●●●●●●
142. 33482430 c.755T>C p.L252S missense 0.00002471●●●●●●
143. 33513492 c.2710G>C p.D904H missense 0.00002471●●●●●●
144. 33501286 c.1862G>A p.R621Q missense 0.00002471●●●●●●
145. 33495370 c.1442G>A p.R481H missense 0.00001822●●●●●●
146. 33495361 c.1433T>C p.I478T missense 0.00001818●●●●●●
147. 33495102 c.1174A>G p.M392V missense 0.00001783●●●●●●
148. 33510446 c.2380G>C p.V794L missense 0.00001774●●●●●●
149. 33510450 c.2384A>G p.Q795R missense 0.00001769●●●●●●
150. 33495289 c.1361G>A p.R454H missense 0.00001764●●●●●●
151. 33510468 c.2402A>C p.D801A missense 0.00001741●●●●●●
152. 33477225 c.364A>G p.T122A missense 0.00001698●●●●●●
153. 33497144 c.1559A>G p.N520S missense 0.00001683●●●●●●
154. 33475437 c.155G>A p.C52Y missense 0.00001680●●●●●●
155. 33497159 c.1574C>G p.T525S missense 0.00001673●●●●●●
156. 33475428 c.146G>A p.R49Q missense 0.00001673●●●●●●
157. 33481744 c.623G>A p.S208N missense 0.00001672●●●●●●
158. 33497161 c.1576C>T p.R526W missense 0.00001672●●●●●●
159. 33475413 c.131C>T p.T44M missense 0.00001662●●●●●●
160. 33495228 c.1300C>A p.R434S missense 0.00001661●●●●●●
161. 33507689 c.2373C>A p.H791Q missense 0.00001658●●●●●●
162. 33497201 c.1616C>T p.T539M missense 0.00001658●●●●●●
163. 33475401 c.119C>A p.A40D missense 0.00001658●●●●●●
164. 33495217 c.1289G>A p.C430Y missense 0.00001655●●●●●●
165. 33495180 c.1252G>A p.G418R missense 0.00001655●●●●●●
166. 33491161 c.1127G>T p.R376L missense 0.00001655●●●●●●
167. 33498473 c.1828C>A p.H610N missense 0.00001655●●●●●●
168. 33495211 c.1283C>T p.A428V missense 0.00001654●●●●●●
169. 33496871 c.1468G>A p.G490S missense 0.00001654●●●●●●
170. 33507663 c.2347G>A p.E783K missense 0.00001653●●●●●●
171. 33496890 c.1487A>T p.D496V missense 0.00001652●●●●●●
172. 33504141 c.2137G>A p.G713R missense 0.00001652●●●●●●
173. 33481714 c.593C>A p.A198D missense 0.00001652●●●●●●
174. 33486541 c.956G>A p.R319H missense 0.00001651●●●●●●
175. 33486540 c.955C>T p.R319C missense 0.00001651●●●●●●
176. 33496911 c.1508C>A p.A503E missense 0.00001650●●●●●●
177. 33491148 c.1114C>A p.R372S missense 0.00001650●●●●●●
178. 33481698 c.577C>A p.P193T missense 0.00001650●●●●●●
179. 33486438 c.853A>G p.M285V missense 0.00001650●●●●●●
180. 33482460 c.785G>A p.G262E missense 0.00001649●●●●●●
181. 33496947 c.1544G>A p.R515H missense 0.00001649●●●●●●
182. 33486518 c.933C>A p.D311E missense 0.00001649●●●●●●
183. 33491139 c.1105G>T p.D369Y missense 0.00001649●●●●●●
184. 33507630 c.2314G>A p.E772K missense 0.00001649●●●●●●
185. 33482355 c.680G>A p.C227Y missense 0.00001648●●●●●●
186. 33504109 c.2105C>A p.A702D missense 0.00001648●●●●●●
187. 33513375 c.2593C>A p.Q865K missense 0.00001648●●●●●●
188. 33503011 c.1989C>A p.N663K missense 0.00001648●●●●●●
189. 33481599 c.478A>C p.N160H missense 0.00001648●●●●●●
190. 33513346 c.2564G>A p.R855Q missense 0.00001648●●●●●●
191. 33486480 c.895G>A p.A299T missense 0.00001648●●●●●●
192. 33482438 c.763G>C p.E255Q missense 0.00001648●●●●●●
193. 33481620 c.499C>G p.R167G missense 0.00001648●●●●●●
194. 33486451 c.866A>G p.K289R missense 0.00001648●●●●●●
195. 33504093 c.2089G>A p.A697T missense 0.00001648●●●●●●
196. 33501354 c.1930A>G p.I644V missense 0.00001648●●●●●●
197. 33491104 c.1070T>C p.I357T missense 0.00001648●●●●●●
198. 33482427 c.752C>T p.S251F missense 0.00001647●●●●●●
199. 33482370 c.695T>A p.V232E missense 0.00001647●●●●●●
200. 33501331 c.1907G>C p.C636S missense 0.00001647●●●●●●
201. 33501294 c.1870C>T p.R624W missense 0.00001647●●●●●●
202. 33497279 c.1694G>T p.G565V missense 0.00000967●●●●●●
203. 33497278 c.1693G>C p.G565R missense 0.00000957●●●●●●
204. 33497270 c.1685C>T p.A562V missense 0.00000914●●●●●●
205. 33495379 c.1451T>A p.V484E missense 0.00000912●●●●●●
206. 33495369 c.1441C>T p.R481C missense 0.00000910●●●●●●
207. 33495346 c.1418C>T p.T473I missense 0.00000907●●●●●●
208. 33495315 c.1387G>A p.V463M missense 0.00000898●●●●●●
209. 33495110 c.1182G>T p.K394N missense 0.00000885●●●●●●
210. 33495112 c.1184A>G p.N395S missense 0.00000884●●●●●●
211. 33510453 c.2387A>G p.E796G missense 0.00000883●●●●●●
212. 33495115 c.1187T>G p.L396W missense 0.00000881●●●●●●
213. 33510584 c.2518C>T p.L840F missense 0.00000881●●●●●●
214. 33510456 c.2390G>T p.R797M missense 0.00000881●●●●●●
215. 33495286 c.1358G>T p.S453I missense 0.00000878●●●●●●
216. 33477073 c.212A>G p.D71G missense 0.00000875●●●●●●
217. 33477073 c.212A>T p.D71V missense 0.00000875●●●●●●
218. 33477079 c.218A>G p.N73S missense 0.00000868●●●●●●
219. 33510470 c.2404G>A p.G802R missense 0.00000868●●●●●●
220. 33510573 c.2507A>G p.K836R missense 0.00000867●●●●●●
221. 33495128 c.1200G>T p.Q400H missense 0.00000867●●●●●●
222. 33495130 c.1202C>T p.T401I missense 0.00000865●●●●●●
223. 33497252 c.1667A>G p.Q556R missense 0.00000863●●●●●●
224. 33477085 c.224C>T p.S75L missense 0.00000861●●●●●●
225. 33495271 c.1343C>T p.A448V missense 0.00000859●●●●●●
226. 33495138 c.1210G>A p.G404R missense 0.00000855●●●●●●
227. 33495262 c.1334T>G p.L445R missense 0.00000851●●●●●●
228. 33481758 c.637A>G p.R213G missense 0.00000849●●●●●●
229. 33510488 c.2422C>G p.L808V missense 0.00000848●●●●●●
230. 33481755 c.634G>A p.A212T missense 0.00000846●●●●●●
231. 33497239 c.1654G>A p.V552I missense 0.00000845●●●●●●
232. 33510494 c.2428G>C p.V810L missense 0.00000844●●●●●●
233. 33477215 c.354G>T p.R118S missense 0.00000841●●●●●●
234. 33510504 c.2438G>T p.C813F missense 0.00000840●●●●●●
235. 33510509 c.2443G>A p.E815K missense 0.00000839●●●●●●
236. 33475434 c.152C>T p.A51V missense 0.00000839●●●●●●
237. 33477105 c.244C>T p.R82W missense 0.00000839●●●●●●
238. 33475431 c.149C>A p.A50E missense 0.00000838●●●●●●
239. 33491182 c.1148T>C p.I383T missense 0.00000836●●●●●●
240. 33497162 c.1577G>C p.R526P missense 0.00000835●●●●●●
241. 33497162 c.1577G>A p.R526Q missense 0.00000835●●●●●●
242. 33475421 c.139C>T p.R47W missense 0.00000834●●●●●●
243. 33477111 c.250T>A p.C84S missense 0.00000833●●●●●●
244. 33475419 c.137A>T p.Y46F missense 0.00000833●●●●●●
245. 33481739 c.618G>A p.M206I missense 0.00000833●●●●●●
246. 33495161 c.1233C>A p.D411E missense 0.00000832●●●●●●
247. 33495229 c.1301G>T p.R434L missense 0.00000831●●●●●●
248. 33495229 c.1301G>A p.R434H missense 0.00000831●●●●●●
249. 33495227 c.1299G>T p.E433D missense 0.00000830●●●●●●
250. 33497176 c.1591G>A p.A531T missense 0.00000830●●●●●●
251. 33497192 c.1607C>T p.A536V missense 0.00000829●●●●●●
252. 33475284 c.2T>C p.Met1? missense 0.00000829●●●●●●
253. 33491164 c.1130A>T p.K377M missense 0.00000829●●●●●●
254. 33475400 c.118G>T p.A40S missense 0.00000829●●●●●●
255. 33497186 c.1601G>T p.G534V missense 0.00000829●●●●●●
256. 33491165 c.1131G>T p.K377N missense 0.00000829●●●●●●
257. 33486563 c.978T>A p.N326K missense 0.00000829●●●●●●
258. 33498479 c.1834A>C p.K612Q missense 0.00000829●●●●●●
259. 33491161 c.1127G>A p.R376H missense 0.00000828●●●●●●
260. 33507682 c.2366T>C p.V789A missense 0.00000828●●●●●●
261. 33479979 c.449G>A p.S150N missense 0.00000828●●●●●●
262. 33477190 c.329A>G p.N110S missense 0.00000828●●●●●●
263. 33475374 c.92A>G p.Q31R missense 0.00000827●●●●●●
264. 33496875 c.1472C>T p.S491F missense 0.00000827●●●●●●
265. 33491045 c.1011G>T p.Q337H missense 0.00000827●●●●●●
266. 33491159 c.1125C>A p.F375L missense 0.00000827●●●●●●
267. 33496878 c.1475C>T p.A492V missense 0.00000827●●●●●●
268. 33475299 c.17C>A p.A6E missense 0.00000827●●●●●●
269. 33495206 c.1278G>A p.M426I missense 0.00000827●●●●●●
270. 33486550 c.965A>G p.Y322C missense 0.00000827●●●●●●
271. 33475373 c.91C>G p.Q31E missense 0.00000827●●●●●●
272. 33475298 c.16G>A p.A6T missense 0.00000827●●●●●●
273. 33475337 c.55C>A p.L19I missense 0.00000826●●●●●●
274. 33475333 c.51C>G p.F17L missense 0.00000826●●●●●●
275. 33479963 c.433C>G p.L145V missense 0.00000826●●●●●●
276. 33477165 c.304C>T p.R102C missense 0.00000826●●●●●●
277. 33475350 c.68A>G p.K23R missense 0.00000826●●●●●●
278. 33479970 c.440A>G p.D147G missense 0.00000826●●●●●●
279. 33482475 c.800T>C p.L267P missense 0.00000826●●●●●●
280. 33496893 c.1490A>G p.Y497C missense 0.00000826●●●●●●
281. 33513322 c.2540C>A p.T847N missense 0.00000826●●●●●●
282. 33498467 c.1822G>A p.E608K missense 0.00000826●●●●●●
283. 33477166 c.305G>T p.R102L missense 0.00000826●●●●●●
284. 33477150 c.289T>G p.F97V missense 0.00000826●●●●●●
285. 33504145 c.2141A>G p.E714G missense 0.00000826●●●●●●
286. 33475325 c.43C>T p.R15W missense 0.00000826●●●●●●
287. 33477177 c.316C>T p.L106F missense 0.00000826●●●●●●
288. 33513322 c.2540C>G p.T847S missense 0.00000826●●●●●●
289. 33507598 c.2282G>C p.R761T missense 0.00000825●●●●●●
290. 33486531 c.946G>A p.D316N missense 0.00000825●●●●●●
291. 33507646 c.2330T>C p.L777P missense 0.00000825●●●●●●
292. 33482471 c.796G>T p.A266S missense 0.00000825●●●●●●
293. 33498461 c.1816G>A p.V606M missense 0.00000825●●●●●●
294. 33482336 c.661G>T p.V221L missense 0.00000825●●●●●●
295. 33496920 c.1517C>T p.S506L missense 0.00000825●●●●●●
296. 33481692 c.571A>G p.K191E missense 0.00000825●●●●●●
297. 33482467 c.792G>T p.E264D missense 0.00000825●●●●●●
298. 33481701 c.580G>A p.E194K missense 0.00000825●●●●●●
299. 33479953 c.423G>A p.M141I missense 0.00000825●●●●●●
300. 33496946 c.1543C>T p.R515C missense 0.00000825●●●●●●
301. 33498378 c.1733C>T p.T578I missense 0.00000824●●●●●●
302. 33498363 c.1718A>T p.Y573F missense 0.00000824●●●●●●
303. 33513480 c.2698A>G p.K900E missense 0.00000824●●●●●●
304. 33491089 c.1055G>A p.R352H missense 0.00000824●●●●●●
305. 33491122 c.1088A>G p.Y363C missense 0.00000824●●●●●●
306. 33481645 c.524T>C p.I175T missense 0.00000824●●●●●●
307. 33501374 c.1950G>C p.K650N missense 0.00000824●●●●●●
308. 33501356 c.1932C>G p.I644M missense 0.00000824●●●●●●
309. 33491106 c.1072C>T p.L358F missense 0.00000824●●●●●●
310. 33481666 c.545C>T p.A182V missense 0.00000824●●●●●●
311. 33486504 c.919G>A p.V307I missense 0.00000824●●●●●●
312. 33502988 c.1966G>A p.V656I missense 0.00000824●●●●●●
313. 33498402 c.1757A>G p.Y586C missense 0.00000824●●●●●●
314. 33482399 c.724T>G p.C242G missense 0.00000824●●●●●●
315. 33513417 c.2635G>A p.D879N missense 0.00000824●●●●●●
316. 33513393 c.2611A>G p.I871V missense 0.00000824●●●●●●
317. 33501348 c.1924A>G p.S642G missense 0.00000824●●●●●●
318. 33482361 c.686T>C p.L229P missense 0.00000824●●●●●●
319. 33481621 c.500G>T p.R167L missense 0.00000824●●●●●●
320. 33513339 c.2557C>A p.L853I missense 0.00000824●●●●●●
321. 33486463 c.878G>C p.G293A missense 0.00000824●●●●●●
322. 33479940 c.410G>A p.R137K missense 0.00000824●●●●●●
323. 33479916 c.386G>A p.R129Q missense 0.00000824●●●●●●
324. 33486503 c.918T>A p.N306K missense 0.00000824●●●●●●
325. 33513490 c.2708C>T p.P903L missense 0.00000824●●●●●●
326. 33507612 c.2296A>G p.I766V missense 0.00000824●●●●●●
327. 33498389 c.1744T>G p.C582G missense 0.00000824●●●●●●
328. 33498366 c.1721C>T p.S574L missense 0.00000824●●●●●●
329. 33482358 c.683G>A p.S228N missense 0.00000824●●●●●●
330. 33498436 c.1791G>C p.Q597H missense 0.00000824●●●●●●
331. 33501363 c.1939G>C p.D647H missense 0.00000824●●●●●●
332. 33491130 c.1096C>A p.L366M missense 0.00000824●●●●●●
333. 33481658 c.537T>G p.N179K missense 0.00000824●●●●●●
334. 33513381 c.2599C>G p.R867G missense 0.00000824●●●●●●
335. 33502988 c.1966G>C p.V656L missense 0.00000824●●●●●●
336. 33476016 c.193G>C p.D65H missense 0.00000824●●●●●●
337. 33501328 c.1904C>T p.A635V missense 0.00000824●●●●●●
338. 33501310 c.1886G>A p.G629D missense 0.00000824●●●●●●
339. 33498406 c.1761T>A p.D587E missense 0.00000824●●●●●●
340. 33482408 c.733C>T p.L245F missense 0.00000824●●●●●●
341. 33482381 c.706G>A p.E236K missense 0.00000824●●●●●●
342. 33513394 c.2612T>C p.I871T missense 0.00000824●●●●●●
343. 33513556 c.2774G>T p.G925V missense 0.00000824●●●●●●
344. 33513420 c.2638G>A p.A880T missense 0.00000824●●●●●●
345. 33503022 c.2000G>A p.R667Q missense 0.00000824●●●●●●
346. 33501349 c.1925G>A p.S642N missense 0.00000824●●●●●●
347. 33491101 c.1067C>G p.S356C missense 0.00000824●●●●●●
348. 33491064 c.1030T>C p.C344R missense 0.00000824●●●●●●
349. 33481632 c.511G>C p.G171R missense 0.00000824●●●●●●
350. 33479946 c.416A>G p.Q139R missense 0.00000824●●●●●●
351. 33501278 c.1854A>G p.I618M missense 0.00000824●●●●●●
352. 33498393 c.1748C>T p.T583I missense 0.00000824●●●●●●
353. 33498368 c.1723G>A p.V575M missense 0.00000824●●●●●●
354. 33482363 c.688A>G p.M230V missense 0.00000824●●●●●●
355. 33476001 c.178G>C p.V60L missense 0.00000824●●●●●●
356. 33501369 c.1945A>G p.T649A missense 0.00000824●●●●●●
357. 33491133 c.1099C>A p.R367S missense 0.00000824●●●●●●
358. 33481666 c.545C>G p.A182G missense 0.00000824●●●●●●
359. 33481599 c.478A>G p.N160D missense 0.00000824●●●●●●
360. 33501312 c.1888G>A p.V630I missense 0.00000824●●●●●●
361. 33498407 c.1762G>A p.V588I missense 0.00000824●●●●●●
362. 33479916 c.386G>T p.R129L missense 0.00000824●●●●●●
363. 33482417 c.742A>C p.I248L missense 0.00000824●●●●●●
364. 33482386 c.711G>A p.M237I missense 0.00000824●●●●●●
365. 33513462 c.2680A>G p.I894V missense 0.00000824●●●●●●
366. 33513403 c.2621A>C p.N874T missense 0.00000824●●●●●●
367. 33482347 c.672C>A p.D224E missense 0.00000824●●●●●●
368. 33513345 c.2563C>T p.R855W missense 0.00000824●●●●●●
369. 33482450 c.775G>A p.E259K missense 0.00000824●●●●●●
370. 33491070 c.1036C>A p.P346T missense 0.00000824●●●●●●
371. 33481638 c.517G>A p.E173K missense 0.00000824●●●●●●
372. 33513498 c.2716A>G p.K906E missense 0.00000824●●●●●●
373. 33486495 c.910A>G p.N304D missense 0.00000824●●●●●●
374. 33501365 c.1941C>A p.D647E missense 0.00000824●●●●●●
375. 33504108 c.2104G>A p.A702T missense 0.00000824●●●●●●
376. 33491103 c.1069A>G p.I357V missense 0.00000824●●●●●●
377. 33482447 c.772C>T p.R258W missense 0.00000824●●●●●●
378. 33498396 c.1751A>G p.N584S missense 0.00000824●●●●●●
379. 33513558 c.2776T>G p.F926V missense 0.00000824●●●●●●
380. 33476014 c.191C>T p.S64L missense 0.00000824●●●●●●
381. 33513525 c.2743C>G p.R915G missense 0.00000824●●●●●●
382. 33513412 c.2630C>G p.A877G missense 0.00000824●●●●●●
383. 33513391 c.2609T>A p.V870D missense 0.00000824●●●●●●
384. 33491134 c.1100G>C p.R367P missense 0.00000824●●●●●●
385. 33501322 c.1898C>A p.A633D missense 0.00000824●●●●●●
386. 33501335 c.1911G>A p.M637I missense 0.00000824●●●●●●
387. 33486462 c.877G>A p.G293S missense 0.00000824●●●●●●
388. 33479924 c.394T>C p.F132L 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.