UNC45B variants in ExAC

UNC45B gene summary
UNC45B variants in

The table below lists the UNC45B 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. 33477242 c.381G>A p.K127K splice site 0.06699904●●●●●●
2. 33476001 c.178G>A p.V60I missense 0.06698135●●●●●●
3. 33513337 c.2555T>A p.I852N missense 0.05591194●●●●●●
4. 33504530 c.2162G>A p.R721Q missense 0.01103410●●●●●●
5. 33507673 c.2357G>A p.C786Y missense 0.01065079●●●●●●
6. 33491164 c.1130A>G p.K377R missense 0.00922365●●●●●●
7. 33491133 c.1099C>T p.R367C missense 0.00459963●●●●●●
8. 33481717 c.596C>T p.A199V missense 0.00410730●●●●●●
9. 33504148 c.2144G>A p.R715Q missense 0.00405139●●●●●●
10. 33504563 c.2195A>C p.D732A missense 0.00348341●●●●●●
11. 33482487 c.808+4G>C splice site 0.00339770●●●●●●
12. 33504124 c.2120C>T p.P707L missense 0.00132709●●●●●●
13. 33486562 c.977A>G p.N326S missense 0.00118534●●●●●●
14. 33495252 c.1324G>A p.V442M missense 0.00116515●●●●●●
15. 33497222 c.1637A>T p.D546V missense 0.00097281●●●●●●
16. 33504147 c.2143C>G p.R715G missense 0.00068625●●●●●●
17. 33475449 c.167C>T p.T56M missense 0.00049158●●●●●●
18. 33497122 c.1548-11C>T splice site 0.00046650●●●●●●
19. 33507570 c.2262-8T>C splice site 0.00041465●●●●●●
20. 33491143 c.1109C>T p.P370L missense 0.00040408●●●●●●
21. 33513429 c.2647G>A p.A883T missense 0.00037066●●●●●●
22. 33491149 c.1115G>A p.R372H missense 0.00031353●●●●●●
23. 33498489 c.1836+8C>A splice site 0.00030863●●●●●●
24. 33507655 c.2339C>T p.A780V missense 0.00029207●●●●●●
25. 33477159 c.298G>A p.V100M missense 0.00027252●●●●●●
26. 33491088 c.1054C>T p.R352C missense 0.00025541●●●●●●
27. 33504029 c.2032-7C>T splice site 0.00024951●●●●●●
28. 33497209 c.1624G>A p.A542T missense 0.00024048●●●●●●
29. 33482325 c.650T>A p.I217N missense 0.00019832●●●●●●
30. 33481629 c.508G>A p.A170T missense 0.00018951●●●●●●
31. 33477087 c.226G>A p.D76N missense 0.00018855●●●●●●
32. 33477064 c.206-3T>C splice site 0.00018677●●●●●●
33. 33507648 c.2332C>T p.R778W missense 0.00018158●●●●●●
34. 33482369 c.694G>A p.V232M missense 0.00018122●●●●●●
35. 33510470 c.2404G>C p.G802R missense 0.00017351●●●●●●
36. 33491181 c.1147A>G p.I383V missense 0.00015868●●●●●●
37. 33491156 c.1122C>G p.H374Q missense 0.00015702●●●●●●
38. 33479923 c.393G>C p.Q131H missense 0.00015657●●●●●●
39. 33477096 c.235G>T p.A79S missense 0.00015233●●●●●●
40. 33495147 c.1219C>G p.Q407E missense 0.00015210●●●●●●
41. 33513360 c.2578G>A p.D860N missense 0.00014828●●●●●●
42. 33497237 c.1652A>G p.D551G missense 0.00014325●●●●●●
43. 33482488 c.808+5_808+6insA splice site 0.00014090●●●●●●
44. 33504147 c.2143C>T p.R715W missense 0.00014056●●●●●●
45. 33475355 c.73G>A p.A25T missense 0.00014040●●●●●●
46. 33481656 c.535A>G p.N179D missense 0.00014009●●●●●●
47. 33501295 c.1871G>A p.R624Q missense 0.00014002●●●●●●
48. 33475281 c.-2A>G splice site 0.00013269●●●●●●
49. 33479993 c.463C>T p.R155W missense 0.00012567●●●●●●
50. 33482365 c.690G>A p.M230I missense 0.00012356●●●●●●
51. 33507649 c.2333G>A p.R778Q missense 0.00011554●●●●●●
52. 33498350 c.1705A>G p.K569E missense 0.00011550●●●●●●
53. 33501307 c.1883C>G p.A628G missense 0.00011531●●●●●●
54. 33475326 c.44G>A p.R15Q missense 0.00010732●●●●●●
55. 33486441 c.856C>G p.L286V missense 0.00010720●●●●●●
56. 33498440 c.1795G>A p.A599T missense 0.00010714●●●●●●
57. 33513494 c.2712T>A p.D904E missense 0.00010708●●●●●●
58. 33486519 c.934C>T p.L312F missense 0.00009892●●●●●●
59. 33495111 c.1183A>G p.N395D missense 0.00009729●●●●●●
60. 33495379 c.1451T>C p.V484A missense 0.00009120●●●●●●
61. 33477142 c.281A>G p.D94G missense 0.00009089●●●●●●
62. 33482364 c.689T>C p.M230T missense 0.00009061●●●●●●
63. 33510506 c.2440G>A p.G814R missense 0.00008399●●●●●●
64. 33510482 c.2416C>A p.L806M missense 0.00007689●●●●●●
65. 33481746 c.625G>A p.G209S missense 0.00007539●●●●●●
66. 33491151 c.1117G>A p.D373N missense 0.00007431●●●●●●
67. 33503048 c.2026G>A p.G676S missense 0.00007415●●●●●●
68. 33513384 c.2602G>A p.G868S missense 0.00007414●●●●●●
69. 33513381 c.2599C>T p.R867W missense 0.00007414●●●●●●
70. 33497153 c.1568T>C p.I523T missense 0.00006703●●●●●●
71. 33497168 c.1583G>A p.R528Q missense 0.00006656●●●●●●
72. 33495228 c.1300C>T p.R434C missense 0.00006643●●●●●●
73. 33477187 c.326G>A p.R109Q missense 0.00006624●●●●●●
74. 33491160 c.1126C>T p.R376C missense 0.00006618●●●●●●
75. 33475367 c.85T>G p.Y29D missense 0.00006611●●●●●●
76. 33486447 c.862A>C p.S288R missense 0.00006594●●●●●●
77. 33482378 c.703_705delGAG p.E235del1 inframe 0.00006590●●●●●●
78. 33510446 c.2380G>A p.V794I missense 0.00006209●●●●●●
79. 33495291 c.1363G>A p.A455T missense 0.00006189●●●●●●
80. 33495133 c.1205T>C p.V402A missense 0.00006027●●●●●●
81. 33481723 c.602G>A p.R201Q missense 0.00005797●●●●●●
82. 33504148 c.2144G>C p.R715P missense 0.00005788●●●●●●
83. 33477166 c.305G>A p.R102H missense 0.00005781●●●●●●
84. 33496943 c.1540T>C p.C514R missense 0.00005772●●●●●●
85. 33482340 c.665G>A p.R222Q missense 0.00005771●●●●●●
86. 33507619 c.2303A>G p.N768S missense 0.00005770●●●●●●
87. 33481614 c.493C>G p.L165V missense 0.00005767●●●●●●
88. 33481621 c.500G>A p.R167H missense 0.00005767●●●●●●
89. 33477112 c.251G>T p.C84F missense 0.00004994●●●●●●
90. 33496886 c.1483A>T p.T495S missense 0.00004958●●●●●●
91. 33477165 c.304C>G p.R102G missense 0.00004955●●●●●●
92. 33482448 c.773G>A p.R258Q missense 0.00004943●●●●●●
93. 33513523 c.2741C>T p.A914V missense 0.00004942●●●●●●
94. 33497283 c.1695+3C>T splice site 0.00004911●●●●●●
95. 33495364 c.1436A>G p.K479R missense 0.00004548●●●●●●
96. 33477062 c.206-5G>A splice site 0.00004472●●●●●●
97. 33504629 c.2261G>A p.R754Q missense 0.00004383●●●●●●
98. 33510480 c.2414G>A p.R805Q missense 0.00004283●●●●●●
99. 33480007 c.471+6T>G splice site 0.00004271●●●●●●
100. 33510487 c.2421G>C p.K807N missense 0.00004242●●●●●●
101. 33504621 c.2253C>A p.D751E missense 0.00004227●●●●●●
102. 33504614 c.2246G>A p.R749Q missense 0.00004181●●●●●●
103. 33495235 c.1307C>T p.T436M missense 0.00004166●●●●●●
104. 33504516 c.2148G>A splice site 0.00004165●●●●●●
105. 33501396 c.1964+8T>A splice site 0.00004125●●●●●●
106. 33501392 c.1964+4G>A splice site 0.00004125●●●●●●
107. 33513382 c.2600G>A p.R867Q missense 0.00004119●●●●●●
108. 33503024 c.2002G>A p.G668S missense 0.00004119●●●●●●
109. 33501285 c.1861C>T p.R621W missense 0.00004118●●●●●●
110. 33513402 c.2620A>C p.N874H missense 0.00004118●●●●●●
111. 33504529 c.2161C>T p.R721W missense 0.00004022●●●●●●
112. 33504545 c.2177T>C p.L726P missense 0.00003812●●●●●●
113. 33504578 c.2210A>G p.Y737C missense 0.00003807●●●●●●
114. 33477072 c.211G>C p.D71H missense 0.00003508●●●●●●
115. 33510471 c.2405G>A p.G802E missense 0.00003467●●●●●●
116. 33510479 c.2413C>T p.R805W missense 0.00003434●●●●●●
117. 33510519 c.2453A>G p.D818G missense 0.00003354●●●●●●
118. 33479994 c.464G>A p.R155Q missense 0.00003352●●●●●●
119. 33477106 c.245G>A p.R82Q missense 0.00003351●●●●●●
120. 33477186 c.325C>T p.R109W missense 0.00003311●●●●●●
121. 33475299 c.17C>T p.A6V missense 0.00003307●●●●●●
122. 33513315 c.2536-3C>T splice site 0.00003307●●●●●●
123. 33482469 c.794A>T p.E265V missense 0.00003300●●●●●●
124. 33507639 c.2323G>C p.D775H missense 0.00003299●●●●●●
125. 33504126 c.2122G>T p.D708Y missense 0.00003297●●●●●●
126. 33482348 c.673C>T p.R225X nonsense 0.00003296●●●●●●
127. 33481639 c.518A>G p.E173G missense 0.00003296●●●●●●
128. 33501268 c.1844A>G p.K615R missense 0.00003295●●●●●●
129. 33501315 c.1891A>G p.I631V missense 0.00003295●●●●●●
130. 33503031 c.2009T>C p.I670T missense 0.00003295●●●●●●
131. 33482393 c.718G>A p.A240T missense 0.00003295●●●●●●
132. 33503009 c.1987A>G p.N663D missense 0.00003295●●●●●●
133. 33495327 c.1399A>T p.K467X nonsense 0.00002707●●●●●●
134. 33510600 c.2534T>A p.V845E missense 0.00002688●●●●●●
135. 33510567 c.2501C>T p.A834V missense 0.00002589●●●●●●
136. 33510563 c.2497G>A p.A833T missense 0.00002576●●●●●●
137. 33510534 c.2468C>T p.A823V missense 0.00002527●●●●●●
138. 33510528 c.2462A>T p.Q821L missense 0.00002520●●●●●●
139. 33497152 c.1567A>G p.I523V missense 0.00002515●●●●●●
140. 33479991 c.461A>T p.K154M missense 0.00002508●●●●●●
141. 33477109 c.248G>A p.R83Q missense 0.00002503●●●●●●
142. 33475422 c.140G>A p.R47Q missense 0.00002502●●●●●●
143. 33498487 c.1836+6G>A splice site 0.00002499●●●●●●
144. 33495231 c.1303G>A p.E435K missense 0.00002494●●●●●●
145. 33477115 c.254A>G p.Q85R missense 0.00002493●●●●●●
146. 33486408 c.823C>A p.L275M missense 0.00002488●●●●●●
147. 33496895 c.1492G>A p.G498S missense 0.00002477●●●●●●
148. 33486432 c.847C>A p.L283M missense 0.00002476●●●●●●
149. 33491148 c.1114C>T p.R372C missense 0.00002475●●●●●●
150. 33482339 c.664C>T p.R222W missense 0.00002474●●●●●●
151. 33496947 c.1544G>T p.R515L missense 0.00002474●●●●●●
152. 33486529 c.944A>G p.H315R missense 0.00002474●●●●●●
153. 33491134 c.1100G>A p.R367H missense 0.00002473●●●●●●
154. 33507615 c.2299G>A p.E767K missense 0.00002473●●●●●●
155. 33498441 c.1796C>T p.A599V missense 0.00002473●●●●●●
156. 33476031 c.205+3G>A splice site 0.00002472●●●●●●
157. 33481620 c.499C>T p.R167C missense 0.00002472●●●●●●
158. 33503004 c.1982G>T p.C661F missense 0.00002472●●●●●●
159. 33498440 c.1795G>T p.A599S missense 0.00002472●●●●●●
160. 33486459 c.874T>A p.S292T missense 0.00002472●●●●●●
161. 33482430 c.755T>C p.L252S missense 0.00002471●●●●●●
162. 33513492 c.2710G>C p.D904H missense 0.00002471●●●●●●
163. 33513526 c.2744G>A p.R915Q missense 0.00002471●●●●●●
164. 33501286 c.1862G>A p.R621Q missense 0.00002471●●●●●●
165. 33482387 c.712T>A p.S238T missense 0.00002471●●●●●●
166. 33497284 c.1695+4G>T splice site 0.00001991●●●●●●
167. 33497284 c.1695+4G>A splice site 0.00001991●●●●●●
168. 33495370 c.1442G>A p.R481H missense 0.00001822●●●●●●
169. 33495361 c.1433T>C p.I478T missense 0.00001818●●●●●●
170. 33495102 c.1174A>G p.M392V missense 0.00001783●●●●●●
171. 33510446 c.2380G>C p.V794L missense 0.00001774●●●●●●
172. 33510450 c.2384A>G p.Q795R missense 0.00001769●●●●●●
173. 33495289 c.1361G>A p.R454H missense 0.00001764●●●●●●
174. 33510468 c.2402A>C p.D801A missense 0.00001741●●●●●●
175. 33477225 c.364A>G p.T122A missense 0.00001698●●●●●●
176. 33497144 c.1559A>G p.N520S missense 0.00001683●●●●●●
177. 33475437 c.155G>A p.C52Y missense 0.00001680●●●●●●
178. 33491189 c.1151+4A>G splice site 0.00001679●●●●●●
179. 33491186 c.1151+1G>A essential splice site 0.00001675●●●●●●
180. 33497159 c.1574C>G p.T525S missense 0.00001673●●●●●●
181. 33475428 c.146G>A p.R49Q missense 0.00001673●●●●●●
182. 33497161 c.1576C>T p.R526W missense 0.00001672●●●●●●
183. 33481744 c.623G>A p.S208N missense 0.00001672●●●●●●
184. 33475413 c.131C>T p.T44M missense 0.00001662●●●●●●
185. 33507703 c.2379+8A>G splice site 0.00001662●●●●●●
186. 33504030 c.2032-6T>C splice site 0.00001661●●●●●●
187. 33495228 c.1300C>A p.R434S missense 0.00001661●●●●●●
188. 33507696 c.2379+1G>T essential splice site 0.00001660●●●●●●
189. 33507689 c.2373C>A p.H791Q missense 0.00001658●●●●●●
190. 33497201 c.1616C>T p.T539M missense 0.00001658●●●●●●
191. 33475401 c.119C>A p.A40D missense 0.00001658●●●●●●
192. 33495217 c.1289G>A p.C430Y missense 0.00001655●●●●●●
193. 33495180 c.1252G>A p.G418R missense 0.00001655●●●●●●
194. 33491161 c.1127G>T p.R376L missense 0.00001655●●●●●●
195. 33498473 c.1828C>A p.H610N missense 0.00001655●●●●●●
196. 33504038 c.2034C>A splice site 0.00001655●●●●●●
197. 33496871 c.1468G>A p.G490S missense 0.00001654●●●●●●
198. 33495211 c.1283C>T p.A428V missense 0.00001654●●●●●●
199. 33507663 c.2347G>A p.E783K missense 0.00001653●●●●●●
200. 33481714 c.593C>A p.A198D missense 0.00001652●●●●●●
201. 33504141 c.2137G>A p.G713R missense 0.00001652●●●●●●
202. 33496890 c.1487A>T p.D496V missense 0.00001652●●●●●●
203. 33481712 c.591delG p.Ala198LeufsTer19 frameshift 0.00001652●●●●●●
204. 33486541 c.956G>A p.R319H missense 0.00001651●●●●●●
205. 33486540 c.955C>T p.R319C missense 0.00001651●●●●●●
206. 33491148 c.1114C>A p.R372S missense 0.00001650●●●●●●
207. 33496911 c.1508C>A p.A503E missense 0.00001650●●●●●●
208. 33486438 c.853A>G p.M285V missense 0.00001650●●●●●●
209. 33496920 c.1517C>A p.S506X nonsense 0.00001650●●●●●●
210. 33481698 c.577C>A p.P193T missense 0.00001650●●●●●●
211. 33496947 c.1544G>A p.R515H missense 0.00001649●●●●●●
212. 33507630 c.2314G>A p.E772K missense 0.00001649●●●●●●
213. 33486518 c.933C>A p.D311E missense 0.00001649●●●●●●
214. 33491139 c.1105G>T p.D369Y missense 0.00001649●●●●●●
215. 33482460 c.785G>A p.G262E missense 0.00001649●●●●●●
216. 33513375 c.2593C>A p.Q865K missense 0.00001648●●●●●●
217. 33503011 c.1989C>A p.N663K missense 0.00001648●●●●●●
218. 33504109 c.2105C>A p.A702D missense 0.00001648●●●●●●
219. 33479915 c.385C>T p.R129X nonsense 0.00001648●●●●●●
220. 33498410 c.1765_1767delAAG p.Lys589del inframe 0.00001648●●●●●●
221. 33486451 c.866A>G p.K289R missense 0.00001648●●●●●●
222. 33482438 c.763G>C p.E255Q missense 0.00001648●●●●●●
223. 33481620 c.499C>G p.R167G missense 0.00001648●●●●●●
224. 33486480 c.895G>A p.A299T missense 0.00001648●●●●●●
225. 33513346 c.2564G>A p.R855Q missense 0.00001648●●●●●●
226. 33482355 c.680G>A p.C227Y missense 0.00001648●●●●●●
227. 33491104 c.1070T>C p.I357T missense 0.00001648●●●●●●
228. 33501354 c.1930A>G p.I644V missense 0.00001648●●●●●●
229. 33481599 c.478A>C p.N160H missense 0.00001648●●●●●●
230. 33504093 c.2089G>A p.A697T missense 0.00001648●●●●●●
231. 33513525 c.2743C>T p.R915X nonsense 0.00001647●●●●●●
232. 33501331 c.1907G>C p.C636S missense 0.00001647●●●●●●
233. 33482427 c.752C>T p.S251F missense 0.00001647●●●●●●
234. 33501294 c.1870C>T p.R624W missense 0.00001647●●●●●●
235. 33482370 c.695T>A p.V232E missense 0.00001647●●●●●●
236. 33497287 c.1695+7G>A splice site 0.00001001●●●●●●
237. 33497279 c.1694G>T p.G565V missense 0.00000967●●●●●●
238. 33497278 c.1693G>C p.G565R missense 0.00000957●●●●●●
239. 33497270 c.1685C>T p.A562V missense 0.00000914●●●●●●
240. 33495384 c.1452+4A>G splice site 0.00000913●●●●●●
241. 33495379 c.1451T>A p.V484E missense 0.00000912●●●●●●
242. 33495369 c.1441C>T p.R481C missense 0.00000910●●●●●●
243. 33495346 c.1418C>T p.T473I missense 0.00000907●●●●●●
244. 33495315 c.1387G>A p.V463M missense 0.00000898●●●●●●
245. 33510443 c.2380-3C>A splice site 0.00000889●●●●●●
246. 33495110 c.1182G>T p.K394N missense 0.00000885●●●●●●
247. 33495112 c.1184A>G p.N395S missense 0.00000884●●●●●●
248. 33510453 c.2387A>G p.E796G missense 0.00000883●●●●●●
249. 33510584 c.2518C>T p.L840F missense 0.00000881●●●●●●
250. 33510456 c.2390G>T p.R797M missense 0.00000881●●●●●●
251. 33495115 c.1187T>G p.L396W missense 0.00000881●●●●●●
252. 33495286 c.1358G>T p.S453I missense 0.00000878●●●●●●
253. 33477073 c.212A>G p.D71G missense 0.00000875●●●●●●
254. 33477073 c.212A>T p.D71V missense 0.00000875●●●●●●
255. 33510579 c.2513_2514delTG p.Cys839ProfsTer42 frameshift 0.00000871●●●●●●
256. 33510470 c.2404G>A p.G802R missense 0.00000868●●●●●●
257. 33477079 c.218A>G p.N73S missense 0.00000868●●●●●●
258. 33510573 c.2507A>G p.K836R missense 0.00000867●●●●●●
259. 33495128 c.1200G>T p.Q400H missense 0.00000867●●●●●●
260. 33495130 c.1202C>T p.T401I missense 0.00000865●●●●●●
261. 33497252 c.1667A>G p.Q556R missense 0.00000863●●●●●●
262. 33477085 c.224C>T p.S75L missense 0.00000861●●●●●●
263. 33495271 c.1343C>T p.A448V missense 0.00000859●●●●●●
264. 33495138 c.1210G>A p.G404R missense 0.00000855●●●●●●
265. 33475458 c.168+8G>A splice site 0.00000854●●●●●●
266. 33495262 c.1334T>G p.L445R missense 0.00000851●●●●●●
267. 33481758 c.637A>G p.R213G missense 0.00000849●●●●●●
268. 33475450 c.168G>A splice site 0.00000848●●●●●●
269. 33510488 c.2422C>G p.L808V missense 0.00000848●●●●●●
270. 33481755 c.634G>A p.A212T missense 0.00000846●●●●●●
271. 33497239 c.1654G>A p.V552I missense 0.00000845●●●●●●
272. 33510494 c.2428G>C p.V810L missense 0.00000844●●●●●●
273. 33477215 c.354G>T p.R118S missense 0.00000841●●●●●●
274. 33510504 c.2438G>T p.C813F missense 0.00000840●●●●●●
275. 33477105 c.244C>T p.R82W missense 0.00000839●●●●●●
276. 33475434 c.152C>T p.A51V missense 0.00000839●●●●●●
277. 33510509 c.2443G>A p.E815K missense 0.00000839●●●●●●
278. 33491189 c.1151+4A>C splice site 0.00000839●●●●●●
279. 33475431 c.149C>A p.A50E missense 0.00000838●●●●●●
280. 33491187 c.1151+2T>C essential splice site 0.00000838●●●●●●
281. 33491186 c.1151+1G>T essential splice site 0.00000837●●●●●●
282. 33491182 c.1148T>C p.I383T missense 0.00000836●●●●●●
283. 33497162 c.1577G>A p.R526Q missense 0.00000835●●●●●●
284. 33497162 c.1577G>C p.R526P missense 0.00000835●●●●●●
285. 33475421 c.139C>T p.R47W missense 0.00000834●●●●●●
286. 33481739 c.618G>A p.M206I missense 0.00000833●●●●●●
287. 33477111 c.250T>A p.C84S missense 0.00000833●●●●●●
288. 33498488 c.1836+7T>C splice site 0.00000833●●●●●●
289. 33498486 c.1836+5G>A splice site 0.00000833●●●●●●
290. 33475419 c.137A>T p.Y46F missense 0.00000833●●●●●●
291. 33495161 c.1233C>A p.D411E missense 0.00000832●●●●●●
292. 33495229 c.1301G>A p.R434H missense 0.00000831●●●●●●
293. 33486567 c.979+3G>A splice site 0.00000831●●●●●●
294. 33495229 c.1301G>T p.R434L missense 0.00000831●●●●●●
295. 33477114 c.253C>T p.Q85X nonsense 0.00000831●●●●●●
296. 33486571 c.979+7A>C splice site 0.00000831●●●●●●
297. 33486569 c.979+5G>A splice site 0.00000831●●●●●●
298. 33482307 c.640-8G>C splice site 0.00000831●●●●●●
299. 33495227 c.1299G>T p.E433D missense 0.00000830●●●●●●
300. 33507695 c.2379G>A splice site 0.00000830●●●●●●
301. 33497176 c.1591G>A p.A531T missense 0.00000830●●●●●●
302. 33486563 c.978T>A p.N326K missense 0.00000829●●●●●●
303. 33497192 c.1607C>T p.A536V missense 0.00000829●●●●●●
304. 33475284 c.2T>C p.Met1? missense 0.00000829●●●●●●
305. 33482314 c.640-1G>A essential splice site 0.00000829●●●●●●
306. 33491164 c.1130A>T p.K377M missense 0.00000829●●●●●●
307. 33475400 c.118G>T p.A40S missense 0.00000829●●●●●●
308. 33498479 c.1834A>C p.K612Q missense 0.00000829●●●●●●
309. 33491165 c.1131G>T p.K377N missense 0.00000829●●●●●●
310. 33497186 c.1601G>T p.G534V missense 0.00000829●●●●●●
311. 33507682 c.2366T>C p.V789A missense 0.00000828●●●●●●
312. 33491161 c.1127G>A p.R376H missense 0.00000828●●●●●●
313. 33479979 c.449G>A p.S150N missense 0.00000828●●●●●●
314. 33477190 c.329A>G p.N110S missense 0.00000828●●●●●●
315. 33475373 c.91C>G p.Q31E missense 0.00000827●●●●●●
316. 33475299 c.17C>A p.A6E missense 0.00000827●●●●●●
317. 33491045 c.1011G>T p.Q337H missense 0.00000827●●●●●●
318. 33491159 c.1125C>A p.F375L missense 0.00000827●●●●●●
319. 33475374 c.92A>G p.Q31R missense 0.00000827●●●●●●
320. 33495206 c.1278G>A p.M426I missense 0.00000827●●●●●●
321. 33513314 c.2536-4C>G splice site 0.00000827●●●●●●
322. 33496875 c.1472C>T p.S491F missense 0.00000827●●●●●●
323. 33486550 c.965A>G p.Y322C missense 0.00000827●●●●●●
324. 33475298 c.16G>A p.A6T missense 0.00000827●●●●●●
325. 33496878 c.1475C>T p.A492V missense 0.00000827●●●●●●
326. 33482475 c.800T>C p.L267P missense 0.00000826●●●●●●
327. 33477150 c.289T>G p.F97V missense 0.00000826●●●●●●
328. 33475340 c.58C>T p.Q20X nonsense 0.00000826●●●●●●
329. 33477177 c.316C>T p.L106F missense 0.00000826●●●●●●
330. 33475333 c.51C>G p.F17L missense 0.00000826●●●●●●
331. 33475339 c.57delC p.Q20Rfs*14 frameshift 0.00000826●●●●●●
332. 33498467 c.1822G>A p.E608K missense 0.00000826●●●●●●
333. 33475327 c.45_49delGCATT p.His16ProfsTer11 frameshift 0.00000826●●●●●●
334. 33475350 c.68A>G p.K23R missense 0.00000826●●●●●●
335. 33475325 c.43C>T p.R15W missense 0.00000826●●●●●●
336. 33479963 c.433C>G p.L145V missense 0.00000826●●●●●●
337. 33477165 c.304C>T p.R102C missense 0.00000826●●●●●●
338. 33504145 c.2141A>G p.E714G missense 0.00000826●●●●●●
339. 33496893 c.1490A>G p.Y497C missense 0.00000826●●●●●●
340. 33475337 c.55C>A p.L19I missense 0.00000826●●●●●●
341. 33479970 c.440A>G p.D147G missense 0.00000826●●●●●●
342. 33513322 c.2540C>G p.T847S missense 0.00000826●●●●●●
343. 33477166 c.305G>T p.R102L missense 0.00000826●●●●●●
344. 33513322 c.2540C>A p.T847N missense 0.00000826●●●●●●
345. 33486531 c.946G>A p.D316N missense 0.00000825●●●●●●
346. 33502982 c.1965-5C>A splice site 0.00000825●●●●●●
347. 33507598 c.2282G>C p.R761T missense 0.00000825●●●●●●
348. 33482467 c.792G>T p.E264D missense 0.00000825●●●●●●
349. 33496925 c.1522G>T p.E508X nonsense 0.00000825●●●●●●
350. 33513328 c.2546G>A p.W849X nonsense 0.00000825●●●●●●
351. 33498461 c.1816G>A p.V606M missense 0.00000825●●●●●●
352. 33479953 c.423G>A p.M141I missense 0.00000825●●●●●●
353. 33501396 c.1964+8T>C splice site 0.00000825●●●●●●
354. 33481692 c.571A>G p.K191E missense 0.00000825●●●●●●
355. 33496953 c.1547+3A>G splice site 0.00000825●●●●●●
356. 33482471 c.796G>T p.A266S missense 0.00000825●●●●●●
357. 33507646 c.2330T>C p.L777P missense 0.00000825●●●●●●
358. 33496946 c.1543C>T p.R515C missense 0.00000825●●●●●●
359. 33482336 c.661G>T p.V221L missense 0.00000825●●●●●●
360. 33481701 c.580G>A p.E194K missense 0.00000825●●●●●●
361. 33496920 c.1517C>T p.S506L missense 0.00000825●●●●●●
362. 33479914 c.384C>T splice site 0.00000824●●●●●●
363. 33501322 c.1898C>A p.A633D missense 0.00000824●●●●●●
364. 33481632 c.511G>C p.G171R missense 0.00000824●●●●●●
365. 33481599 c.478A>G p.N160D missense 0.00000824●●●●●●
366. 33513498 c.2716A>G p.K906E missense 0.00000824●●●●●●
367. 33507623 c.2307C>A p.Y769X nonsense 0.00000824●●●●●●
368. 33498402 c.1757A>G p.Y586C missense 0.00000824●●●●●●
369. 33486463 c.878G>C p.G293A missense 0.00000824●●●●●●
370. 33479916 c.386G>T p.R129L missense 0.00000824●●●●●●
371. 33498371 c.1726_1727insCCA p.Ala576_Thr577insThr inframe 0.00000824●●●●●●
372. 33482408 c.733C>T p.L245F missense 0.00000824●●●●●●
373. 33482399 c.724T>G p.C242G missense 0.00000824●●●●●●
374. 33513480 c.2698A>G p.K900E missense 0.00000824●●●●●●
375. 33513391 c.2609T>A p.V870D missense 0.00000824●●●●●●
376. 33482347 c.672C>A p.D224E missense 0.00000824●●●●●●
377. 33476014 c.191C>T p.S64L missense 0.00000824●●●●●●
378. 33501348 c.1924A>G p.S642G missense 0.00000824●●●●●●
379. 33491106 c.1072C>T p.L358F missense 0.00000824●●●●●●
380. 33491089 c.1055G>A p.R352H missense 0.00000824●●●●●●
381. 33481666 c.545C>G p.A182G missense 0.00000824●●●●●●
382. 33498436 c.1791G>C p.Q597H missense 0.00000824●●●●●●
383. 33486504 c.919G>A p.V307I missense 0.00000824●●●●●●
384. 33513339 c.2557C>A p.L853I missense 0.00000824●●●●●●
385. 33513403 c.2621_2624delACCT p.Leu875TrpfsTer20 frameshift 0.00000824●●●●●●
386. 33486507 c.922delC p.Arg309GlyfsTer20 frameshift 0.00000824●●●●●●
387. 33486503 c.918T>A p.N306K missense 0.00000824●●●●●●
388. 33513558 c.2776T>G p.F926V missense 0.00000824●●●●●●
389. 33498389 c.1744T>G p.C582G missense 0.00000824●●●●●●
390. 33491122 c.1088A>G p.Y363C missense 0.00000824●●●●●●
391. 33498366 c.1721C>T p.S574L missense 0.00000824●●●●●●
392. 33513417 c.2635G>A p.D879N missense 0.00000824●●●●●●
393. 33482381 c.706G>A p.E236K missense 0.00000824●●●●●●
394. 33501363 c.1939G>C p.D647H missense 0.00000824●●●●●●
395. 33502988 c.1966G>A p.V656I missense 0.00000824●●●●●●
396. 33502988 c.1966G>C p.V656L missense 0.00000824●●●●●●
397. 33501328 c.1904C>T p.A635V missense 0.00000824●●●●●●
398. 33501310 c.1886G>A p.G629D missense 0.00000824●●●●●●
399. 33481638 c.517G>A p.E173K missense 0.00000824●●●●●●
400. 33498406 c.1761T>A p.D587E missense 0.00000824●●●●●●
401. 33486465 c.880C>T p.Q294X nonsense 0.00000824●●●●●●
402. 33479924 c.394T>C p.F132L missense 0.00000824●●●●●●
403. 33476016 c.193G>C p.D65H missense 0.00000824●●●●●●
404. 33482417 c.742A>C p.I248L missense 0.00000824●●●●●●
405. 33513525 c.2743C>G p.R915G missense 0.00000824●●●●●●
406. 33503058 c.2031+5C>A splice site 0.00000824●●●●●●
407. 33513393 c.2611A>G p.I871V missense 0.00000824●●●●●●
408. 33513381 c.2599C>G p.R867G missense 0.00000824●●●●●●
409. 33503021 c.1999C>T p.R667X nonsense 0.00000824●●●●●●
410. 33482363 c.688A>G p.M230V missense 0.00000824●●●●●●
411. 33501349 c.1925G>A p.S642N missense 0.00000824●●●●●●
412. 33491130 c.1096C>A p.L366M missense 0.00000824●●●●●●
413. 33491101 c.1067C>G p.S356C missense 0.00000824●●●●●●
414. 33481666 c.545C>T p.A182V missense 0.00000824●●●●●●
415. 33501278 c.1854A>G p.I618M missense 0.00000824●●●●●●
416. 33482450 c.775G>A p.E259K missense 0.00000824●●●●●●
417. 33479904 c.382-8C>A splice site 0.00000824●●●●●●
418. 33475983 c.169-9T>C splice site 0.00000824●●●●●●
419. 33513490 c.2708C>T p.P903L missense 0.00000824●●●●●●
420. 33507612 c.2296A>G p.I766V missense 0.00000824●●●●●●
421. 33498393 c.1748C>T p.T583I missense 0.00000824●●●●●●
422. 33513420 c.2638G>A p.A880T missense 0.00000824●●●●●●
423. 33482386 c.711G>A p.M237I missense 0.00000824●●●●●●
424. 33513345 c.2563C>T p.R855W missense 0.00000824●●●●●●
425. 33501255 c.1837-6C>T splice site 0.00000824●●●●●●
426. 33513394 c.2612T>C p.I871T missense 0.00000824●●●●●●
427. 33501312 c.1888G>A p.V630I missense 0.00000824●●●●●●
428. 33491064 c.1030T>C p.C344R missense 0.00000824●●●●●●
429. 33481645 c.524T>C p.I175T missense 0.00000824●●●●●●
430. 33481621 c.500G>T p.R167L missense 0.00000824●●●●●●
431. 33481585 c.472-8T>G splice site 0.00000824●●●●●●
432. 33479940 c.410G>A p.R137K missense 0.00000824●●●●●●
433. 33498407 c.1762G>A p.V588I missense 0.00000824●●●●●●
434. 33498368 c.1723G>A p.V575M missense 0.00000824●●●●●●
435. 33482447 c.772C>T p.R258W missense 0.00000824●●●●●●
436. 33503022 c.2000G>A p.R667Q missense 0.00000824●●●●●●
437. 33501365 c.1941C>A p.D647E missense 0.00000824●●●●●●
438. 33501369 c.1945A>G p.T649A missense 0.00000824●●●●●●
439. 33491133 c.1099C>A p.R367S missense 0.00000824●●●●●●
440. 33482361 c.686T>C p.L229P missense 0.00000824●●●●●●
441. 33479914 c.384C>G splice site 0.00000824●●●●●●
442. 33498396 c.1751A>G p.N584S missense 0.00000824●●●●●●
443. 33486462 c.877G>A p.G293S missense 0.00000824●●●●●●
444. 33479916 c.386G>A p.R129Q missense 0.00000824●●●●●●
445. 33504108 c.2104G>A p.A702T missense 0.00000824●●●●●●
446. 33491103 c.1069A>G p.I357V missense 0.00000824●●●●●●
447. 33513462 c.2680A>G p.I894V missense 0.00000824●●●●●●
448. 33513412 c.2630C>G p.A877G missense 0.00000824●●●●●●
449. 33513363 c.2581C>T p.Q861X nonsense 0.00000824●●●●●●
450. 33476001 c.178G>C p.V60L missense 0.00000824●●●●●●
451. 33491070 c.1036C>A p.P346T missense 0.00000824●●●●●●
452. 33481658 c.537T>G p.N179K missense 0.00000824●●●●●●
453. 33501335 c.1911G>A p.M637I missense 0.00000824●●●●●●
454. 33486495 c.910A>G p.N304D missense 0.00000824●●●●●●
455. 33479946 c.416A>G p.Q139R missense 0.00000824●●●●●●
456. 33513556 c.2774G>T p.G925V missense 0.00000824●●●●●●
457. 33498378 c.1733C>T p.T578I missense 0.00000824●●●●●●
458. 33498363 c.1718A>T p.Y573F missense 0.00000824●●●●●●
459. 33482358 c.683G>A p.S228N missense 0.00000824●●●●●●
460. 33513403 c.2621A>C p.N874T missense 0.00000824●●●●●●
461. 33501374 c.1950G>C p.K650N missense 0.00000824●●●●●●
462. 33501356 c.1932C>G p.I644M missense 0.00000824●●●●●●
463. 33491134 c.1100G>C p.R367P 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.