UBE4B missense variants in ExAC

UBE4B gene summary
UBE4B variants in

The table below lists the UBE4B 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. 10190575 c.1713G>C p.L571F missense 0.03578195●●●●●●
2. 10190773 c.1813G>A p.V605I missense 0.01002389●●●●●●
3. 10228220 c.3225G>C p.Q1075H missense 0.00795250●●●●●●
4. 10195185 c.2165A>G p.N722S missense 0.00644295●●●●●●
5. 10165771 c.778G>A p.V260M missense 0.00258888●●●●●●
6. 10166437 c.992G>A p.R331H missense 0.00092090●●●●●●
7. 10163148 c.578A>G p.E193G missense 0.00083119●●●●●●
8. 10239569 c.3796C>G p.P1266A missense 0.00067759●●●●●●
9. 10163087 c.517C>T p.R173W missense 0.00046163●●●●●●
10. 10166271 c.826C>T p.P276S missense 0.00038510●●●●●●
11. 10163120 c.550T>G p.S184A missense 0.00022323●●●●●●
12. 10166517 c.1072A>G p.S358G missense 0.00018354●●●●●●
13. 10166467 c.1022C>T p.S341F missense 0.00018271●●●●●●
14. 10190837 c.1877G>A p.S626N missense 0.00017299●●●●●●
15. 10165703 c.710G>A p.R237Q missense 0.00014826●●●●●●
16. 10177642 c.1322A>G p.E441G missense 0.00014380●●●●●●
17. 10190571 c.1709G>A p.R570Q missense 0.00014004●●●●●●
18. 10166389 c.944C>T p.A315V missense 0.00012427●●●●●●
19. 10132216 c.155G>A p.S52N missense 0.00012356●●●●●●
20. 10238798 c.3622G>T p.A1208S missense 0.00010733●●●●●●
21. 10179610 c.1378A>G p.I460V missense 0.00010709●●●●●●
22. 10161237 c.419G>A p.R140Q missense 0.00009897●●●●●●
23. 10221335 c.3189G>T p.Q1063H missense 0.00008253●●●●●●
24. 10166556 c.1111A>T p.R371W missense 0.00007582●●●●●●
25. 10165582 c.589G>A p.D197N missense 0.00007414●●●●●●
26. 10166583 c.1138C>T p.P380S missense 0.00006940●●●●●●
27. 10163142 c.572C>G p.P191R missense 0.00006641●●●●●●
28. 10195079 c.2059A>G p.M687V missense 0.00006603●●●●●●
29. 10190570 c.1708C>T p.R570W missense 0.00005766●●●●●●
30. 10166635 c.1190C>T p.S397F missense 0.00005529●●●●●●
31. 10166317 c.872C>T p.P291L missense 0.00004985●●●●●●
32. 10166338 c.893G>A p.R298H missense 0.00004974●●●●●●
33. 10182028 c.1448A>G p.Q483R missense 0.00004966●●●●●●
34. 10238831 c.3655G>A p.A1219T missense 0.00004956●●●●●●
35. 10205053 c.2419A>G p.T807A missense 0.00004953●●●●●●
36. 10218509 c.3022G>T p.A1008S missense 0.00004943●●●●●●
37. 10197205 c.2305A>G p.I769V missense 0.00004942●●●●●●
38. 10166625 c.1180C>G p.L394V missense 0.00004569●●●●●●
39. 10211398 c.2705C>T p.A902V missense 0.00004150●●●●●●
40. 10228281 c.3286A>G p.M1096V missense 0.00004139●●●●●●
41. 10205062 c.2428C>T p.R810C missense 0.00004126●●●●●●
42. 10218504 c.3017A>G p.N1006S missense 0.00004119●●●●●●
43. 10207124 c.2567G>A p.R856H missense 0.00004118●●●●●●
44. 10165612 c.619A>T p.M207L missense 0.00004118●●●●●●
45. 10155591 c.284C>T p.T95M missense 0.00004118●●●●●●
46. 10166569 c.1124C>T p.T375M missense 0.00003405●●●●●●
47. 10195197 c.2177G>A p.R726H missense 0.00003396●●●●●●
48. 10177633 c.1313G>C p.G438A missense 0.00003334●●●●●●
49. 10166314 c.869G>T p.G290V missense 0.00003325●●●●●●
50. 10211395 c.2702A>C p.Q901P missense 0.00003322●●●●●●
51. 10166413 c.968G>A p.S323N missense 0.00003315●●●●●●
52. 10195146 c.2126C>T p.T709M missense 0.00003311●●●●●●
53. 10209286 c.2636C>T p.A879V missense 0.00003301●●●●●●
54. 10163016 c.446C>T p.S149L missense 0.00003300●●●●●●
55. 10155522 c.215T>G p.V72G missense 0.00003296●●●●●●
56. 10155527 c.220C>T p.H74Y missense 0.00003296●●●●●●
57. 10197224 c.2324G>A p.R775H missense 0.00003295●●●●●●
58. 10197163 c.2263A>T p.T755S missense 0.00003295●●●●●●
59. 10155567 c.260G>C p.S87T missense 0.00003295●●●●●●
60. 10207147 c.2590G>A p.D864N missense 0.00003295●●●●●●
61. 10132204 c.143G>A p.G48E missense 0.00003295●●●●●●
62. 10166589 c.1144G>A p.A382T missense 0.00002622●●●●●●
63. 10166305 c.860C>T p.P287L missense 0.00002501●●●●●●
64. 10166431 c.986G>T p.R329L missense 0.00002488●●●●●●
65. 10166428 c.983C>T p.P328L missense 0.00002487●●●●●●
66. 10239542 c.3769A>G p.I1257V missense 0.00002486●●●●●●
67. 10239980 c.3875C>T p.A1292V missense 0.00002482●●●●●●
68. 10239594 c.3821C>T p.T1274M missense 0.00002478●●●●●●
69. 10239599 c.3826A>G p.T1276A missense 0.00002478●●●●●●
70. 10192508 c.1993G>A p.V665I missense 0.00002477●●●●●●
71. 10163009 c.439C>G p.P147A missense 0.00002476●●●●●●
72. 10238808 c.3632T>C p.V1211A missense 0.00002476●●●●●●
73. 10165768 c.775A>G p.S259G missense 0.00002473●●●●●●
74. 10132174 c.113C>T p.P38L missense 0.00002472●●●●●●
75. 10211446 c.2753T>C p.M918T missense 0.00002472●●●●●●
76. 10132185 c.124A>G p.I42V missense 0.00002471●●●●●●
77. 10179614 c.1382G>A p.R461H missense 0.00002471●●●●●●
78. 10165739 c.746C>G p.S249C missense 0.00002471●●●●●●
79. 10207138 c.2581G>A p.A861T missense 0.00002471●●●●●●
80. 10197247 c.2347A>G p.I783V missense 0.00002471●●●●●●
81. 10179613 c.1381C>T p.R461C missense 0.00002471●●●●●●
82. 10155547 c.240A>C p.E80D missense 0.00002471●●●●●●
83. 10166613 c.1168C>T p.R390C missense 0.00001799●●●●●●
84. 10166605 c.1160C>T p.T387M missense 0.00001784●●●●●●
85. 10166571 c.1126G>C p.G376R missense 0.00001705●●●●●●
86. 10205016 c.2382A>T p.K794N missense 0.00001690●●●●●●
87. 10166502 c.1057C>A p.P353T missense 0.00001665●●●●●●
88. 10166488 c.1043C>T p.S348L missense 0.00001663●●●●●●
89. 10209336 c.2686G>A p.V896I missense 0.00001662●●●●●●
90. 10166475 c.1030G>A p.V344I missense 0.00001662●●●●●●
91. 10166445 c.1000A>G p.T334A missense 0.00001660●●●●●●
92. 10166454 c.1009C>T p.H337Y missense 0.00001660●●●●●●
93. 10166436 c.991C>T p.R331C missense 0.00001659●●●●●●
94. 10186852 c.1555A>G p.I519V missense 0.00001659●●●●●●
95. 10166431 c.986G>A p.R329Q missense 0.00001659●●●●●●
96. 10192529 c.2014G>A p.A672T missense 0.00001658●●●●●●
97. 10166428 c.983C>A p.P328Q missense 0.00001658●●●●●●
98. 10166385 c.940A>G p.S314G missense 0.00001657●●●●●●
99. 10195143 c.2123C>T p.P708L missense 0.00001655●●●●●●
100. 10238835 c.3659G>A p.R1220H missense 0.00001653●●●●●●
101. 10238837 c.3661G>A p.A1221T missense 0.00001653●●●●●●
102. 10228216 c.3221C>T p.S1074F missense 0.00001652●●●●●●
103. 10238814 c.3638A>C p.E1213A missense 0.00001651●●●●●●
104. 10228237 c.3242G>A p.R1081H missense 0.00001651●●●●●●
105. 10205063 c.2429G>A p.R810H missense 0.00001650●●●●●●
106. 10209274 c.2624A>G p.K875R missense 0.00001650●●●●●●
107. 10205078 c.2444G>A p.R815H missense 0.00001650●●●●●●
108. 10211436 c.2743C>A p.L915I missense 0.00001649●●●●●●
109. 10163019 c.449G>T p.G150V missense 0.00001649●●●●●●
110. 10163021 c.451C>A p.P151T missense 0.00001649●●●●●●
111. 10207147 c.2590G>T p.D864Y missense 0.00001648●●●●●●
112. 10197152 c.2252C>T p.P751L missense 0.00001648●●●●●●
113. 10163048 c.478C>A p.Q160K missense 0.00001648●●●●●●
114. 10186906 c.1609G>A p.D537N missense 0.00001648●●●●●●
115. 10189492 c.1681C>G p.P561A missense 0.00001648●●●●●●
116. 10186907 c.1610A>C p.D537A missense 0.00001648●●●●●●
117. 10190827 c.1867C>T p.R623C missense 0.00001648●●●●●●
118. 10132201 c.140C>A p.P47Q missense 0.00001648●●●●●●
119. 10165747 c.754G>A p.G252R missense 0.00001648●●●●●●
120. 10190828 c.1868G>A p.R623H missense 0.00001648●●●●●●
121. 10165697 c.704C>T p.A235V missense 0.00001647●●●●●●
122. 10165621 c.628C>A p.L210I missense 0.00001647●●●●●●
123. 10190639 c.1777G>A p.A593T missense 0.00001647●●●●●●
124. 10165627 c.634A>T p.M212L missense 0.00001647●●●●●●
125. 10197220 c.2320C>T p.R774C missense 0.00001647●●●●●●
126. 10165702 c.709C>T p.R237W missense 0.00001647●●●●●●
127. 10165675 c.682A>G p.T228A missense 0.00001647●●●●●●
128. 10231282 c.3420C>A p.N1140K missense 0.00001647●●●●●●
129. 10197199 c.2299C>T p.L767F missense 0.00001647●●●●●●
130. 10211502 c.2809G>A p.V937I missense 0.00001647●●●●●●
131. 10195238 c.2218G>A p.E740K missense 0.00000989●●●●●●
132. 10166631 c.1186A>C p.I396L missense 0.00000918●●●●●●
133. 10166614 c.1169G>A p.R390H missense 0.00000901●●●●●●
134. 10166602 c.1157C>G p.A386G missense 0.00000887●●●●●●
135. 10166602 c.1157C>T p.A386V missense 0.00000887●●●●●●
136. 10166593 c.1148C>T p.S383L missense 0.00000879●●●●●●
137. 10195209 c.2189C>T p.T730M missense 0.00000870●●●●●●
138. 10166260 c.815A>G p.Y272C missense 0.00000870●●●●●●
139. 10166272 c.827C>T p.P276L missense 0.00000855●●●●●●
140. 10166275 c.830C>T p.A277V missense 0.00000849●●●●●●
141. 10195196 c.2176C>T p.R726C missense 0.00000849●●●●●●
142. 10093742 c.14G>A p.S5N missense 0.00000846●●●●●●
143. 10166558 c.1113G>C p.R371S missense 0.00000843●●●●●●
144. 10166557 c.1112G>A p.R371K missense 0.00000842●●●●●●
145. 10166539 c.1094C>T p.A365V missense 0.00000838●●●●●●
146. 10166538 c.1093G>A p.A365T missense 0.00000838●●●●●●
147. 10205022 c.2388T>A p.N796K missense 0.00000837●●●●●●
148. 10166296 c.851G>A p.S284N missense 0.00000836●●●●●●
149. 10166524 c.1079C>G p.P360R missense 0.00000835●●●●●●
150. 10166514 c.1069G>A p.A357T missense 0.00000834●●●●●●
151. 10238736 c.3560T>C p.I1187T missense 0.00000834●●●●●●
152. 10228303 c.3308A>T p.Q1103L missense 0.00000834●●●●●●
153. 10239491 c.3718C>G p.L1240V missense 0.00000834●●●●●●
154. 10228303 c.3308A>G p.Q1103R missense 0.00000834●●●●●●
155. 10166511 c.1066C>T p.L356F missense 0.00000833●●●●●●
156. 10239506 c.3733G>A p.V1245M missense 0.00000833●●●●●●
157. 10239512 c.3739C>G p.L1247V missense 0.00000832●●●●●●
158. 10166502 c.1057C>G p.P353A missense 0.00000832●●●●●●
159. 10195170 c.2150G>A p.R717Q missense 0.00000832●●●●●●
160. 10166310 c.865A>G p.M289V missense 0.00000832●●●●●●
161. 10195164 c.2144G>C p.R715T missense 0.00000831●●●●●●
162. 10166473 c.1028G>T p.G343V missense 0.00000831●●●●●●
163. 10195046 c.2026A>C p.T676P missense 0.00000831●●●●●●
164. 10239953 c.3848T>C p.V1283A missense 0.00000831●●●●●●
165. 10132092 c.31C>T p.R11W missense 0.00000830●●●●●●
166. 10166320 c.875C>G p.S292C missense 0.00000830●●●●●●
167. 10177617 c.1297T>A p.C433S missense 0.00000830●●●●●●
168. 10228290 c.3295A>C p.I1099L missense 0.00000830●●●●●●
169. 10239956 c.3851C>T p.P1284L missense 0.00000830●●●●●●
170. 10195160 c.2140C>T p.P714S missense 0.00000830●●●●●●
171. 10166397 c.952G>A p.G318R missense 0.00000829●●●●●●
172. 10166337 c.892C>T p.R298C missense 0.00000829●●●●●●
173. 10166401 c.956C>G p.T319S missense 0.00000829●●●●●●
174. 10166331 c.886C>A p.P296T missense 0.00000829●●●●●●
175. 10239537 c.3764G>A p.R1255H missense 0.00000829●●●●●●
176. 10239971 c.3866A>G p.Q1289R missense 0.00000829●●●●●●
177. 10166335 c.890C>G p.S297C missense 0.00000829●●●●●●
178. 10166338 c.893G>T p.R298L missense 0.00000829●●●●●●
179. 10177608 c.1288C>T p.L430F missense 0.00000829●●●●●●
180. 10166379 c.934C>T p.P312S missense 0.00000829●●●●●●
181. 10177591 c.1271C>G p.T424R missense 0.00000828●●●●●●
182. 10205035 c.2401A>G p.K801E missense 0.00000828●●●●●●
183. 10238846 c.3670G>A p.D1224N missense 0.00000828●●●●●●
184. 10177594 c.1274A>G p.D425G missense 0.00000828●●●●●●
185. 10211409 c.2716C>T p.P906S missense 0.00000828●●●●●●
186. 10186856 c.1559T>G p.F520C missense 0.00000828●●●●●●
187. 10166371 c.926C>T p.P309L missense 0.00000828●●●●●●
188. 10238843 c.3667A>G p.I1223V missense 0.00000827●●●●●●
189. 10239986 c.3881T>A p.M1294K missense 0.00000827●●●●●●
190. 10209315 c.2665G>A p.A889T missense 0.00000827●●●●●●
191. 10239991 c.3886G>C p.E1296Q missense 0.00000827●●●●●●
192. 10238771 c.3595A>G p.I1199V missense 0.00000827●●●●●●
193. 10177579 c.1259C>T p.T420I missense 0.00000827●●●●●●
194. 10163123 c.553G>C p.A185P missense 0.00000827●●●●●●
195. 10186866 c.1569T>G p.I523M missense 0.00000826●●●●●●
196. 10228245 c.3250C>T p.R1084C missense 0.00000826●●●●●●
197. 10228246 c.3251G>A p.R1084H missense 0.00000826●●●●●●
198. 10238798 c.3622G>A p.A1208T missense 0.00000826●●●●●●
199. 10163115 c.545C>T p.S182F missense 0.00000826●●●●●●
200. 10221343 c.3197G>A p.R1066Q missense 0.00000826●●●●●●
201. 10238832 c.3656C>T p.A1219V missense 0.00000826●●●●●●
202. 10228249 c.3254C>G p.S1085C missense 0.00000826●●●●●●
203. 10228243 c.3248C>G p.S1083C missense 0.00000826●●●●●●
204. 10221342 c.3196C>T p.R1066W missense 0.00000826●●●●●●
205. 10239573 c.3800C>T p.T1267M missense 0.00000826●●●●●●
206. 10239600 c.3827C>T p.T1276I missense 0.00000826●●●●●●
207. 10228210 c.3215G>A p.R1072H missense 0.00000826●●●●●●
208. 10182034 c.1454C>T p.P485L missense 0.00000826●●●●●●
209. 10240001 c.3896A>G p.N1299S missense 0.00000826●●●●●●
210. 10238777 c.3601A>G p.I1201V missense 0.00000826●●●●●●
211. 10186862 c.1565C>G p.P522R missense 0.00000826●●●●●●
212. 10205044 c.2410C>T p.P804S missense 0.00000826●●●●●●
213. 10238822 c.3646G>A p.A1216T missense 0.00000826●●●●●●
214. 10182048 c.1468C>T p.P490S missense 0.00000825●●●●●●
215. 10192484 c.1969G>T p.A657S missense 0.00000825●●●●●●
216. 10177542 c.1222A>G p.N408D missense 0.00000825●●●●●●
217. 10186930 c.1633C>T p.L545F missense 0.00000825●●●●●●
218. 10221335 c.3189G>C p.Q1063H missense 0.00000825●●●●●●
219. 10177534 c.1214G>T p.G405V missense 0.00000825●●●●●●
220. 10132124 c.63G>C p.Q21H missense 0.00000825●●●●●●
221. 10205077 c.2443C>T p.R815C missense 0.00000825●●●●●●
222. 10177524 c.1204G>A p.A402T missense 0.00000825●●●●●●
223. 10182049 c.1469C>T p.P490L missense 0.00000825●●●●●●
224. 10205057 c.2423G>A p.R808K missense 0.00000825●●●●●●
225. 10186931 c.1634T>C p.L545P missense 0.00000825●●●●●●
226. 10177555 c.1235A>G p.Y412C missense 0.00000825●●●●●●
227. 10192500 c.1985C>A p.A662E missense 0.00000825●●●●●●
228. 10186871 c.1574A>G p.Q525R missense 0.00000825●●●●●●
229. 10209290 c.2640G>T p.L880F missense 0.00000825●●●●●●
230. 10192500 c.1985C>T p.A662V missense 0.00000825●●●●●●
231. 10205081 c.2447G>T p.C816F missense 0.00000825●●●●●●
232. 10161240 c.422G>A p.S141N missense 0.00000825●●●●●●
233. 10177533 c.1213G>C p.G405R missense 0.00000825●●●●●●
234. 10190800 c.1840G>A p.G614R missense 0.00000824●●●●●●
235. 10163070 c.500G>A p.R167H missense 0.00000824●●●●●●
236. 10132206 c.145C>G p.P49A missense 0.00000824●●●●●●
237. 10231288 c.3426G>T p.E1142D missense 0.00000824●●●●●●
238. 10231244 c.3382C>T p.L1128F missense 0.00000824●●●●●●
239. 10189457 c.1646G>C p.G549A missense 0.00000824●●●●●●
240. 10179638 c.1406C>T p.A469V missense 0.00000824●●●●●●
241. 10132239 c.178A>G p.M60V missense 0.00000824●●●●●●
242. 10165716 c.723A>C p.R241S missense 0.00000824●●●●●●
243. 10132260 c.199A>T p.I67L missense 0.00000824●●●●●●
244. 10132240 c.179T>C p.M60T missense 0.00000824●●●●●●
245. 10207124 c.2567G>T p.R856L missense 0.00000824●●●●●●
246. 10132173 c.112C>T p.P38S missense 0.00000824●●●●●●
247. 10207066 c.2509G>A p.E837K missense 0.00000824●●●●●●
248. 10190621 c.1759A>G p.R587G missense 0.00000824●●●●●●
249. 10161221 c.403G>A p.D135N missense 0.00000824●●●●●●
250. 10186897 c.1600T>C p.C534R missense 0.00000824●●●●●●
251. 10211574 c.2881C>G p.L961V missense 0.00000824●●●●●●
252. 10165732 c.739A>G p.T247A missense 0.00000824●●●●●●
253. 10197217 c.2317T>G p.C773G missense 0.00000824●●●●●●
254. 10211520 c.2827C>T p.P943S missense 0.00000824●●●●●●
255. 10165666 c.673C>G p.L225V missense 0.00000824●●●●●●
256. 10207135 c.2578C>T p.P860S missense 0.00000824●●●●●●
257. 10190801 c.1841G>T p.G614V missense 0.00000824●●●●●●
258. 10163083 c.513G>T p.K171N missense 0.00000824●●●●●●
259. 10163042 c.472G>A p.A158T missense 0.00000824●●●●●●
260. 10132209 c.148T>C p.S50P missense 0.00000824●●●●●●
261. 10207027 c.2470G>A p.V824I missense 0.00000824●●●●●●
262. 10231262 c.3400C>T p.R1134C missense 0.00000824●●●●●●
263. 10155644 c.337T>C p.C113R missense 0.00000824●●●●●●
264. 10197232 c.2332C>T p.R778C missense 0.00000824●●●●●●
265. 10197174 c.2274C>G p.F758L missense 0.00000824●●●●●●
266. 10132245 c.184C>T p.P62S missense 0.00000824●●●●●●
267. 10221321 c.3175G>C p.E1059Q missense 0.00000824●●●●●●
268. 10221286 c.3140G>A p.R1047Q missense 0.00000824●●●●●●
269. 10132260 c.199A>G p.I67V missense 0.00000824●●●●●●
270. 10132186 c.125T>C p.I42T missense 0.00000824●●●●●●
271. 10207087 c.2530C>G p.L844V missense 0.00000824●●●●●●
272. 10190583 c.1721C>T p.P574L missense 0.00000824●●●●●●
273. 10197221 c.2321G>A p.R774H missense 0.00000824●●●●●●
274. 10179581 c.1349A>C p.Q450P missense 0.00000824●●●●●●
275. 10197212 c.2312C>T p.P771L missense 0.00000824●●●●●●
276. 10179614 c.1382G>T p.R461L missense 0.00000824●●●●●●
277. 10179664 c.1432C>G p.Q478E missense 0.00000824●●●●●●
278. 10211526 c.2833G>A p.V945I missense 0.00000824●●●●●●
279. 10132198 c.137C>T p.A46V missense 0.00000824●●●●●●
280. 10132212 c.151C>G p.Q51E missense 0.00000824●●●●●●
281. 10197241 c.2341C>T p.R781W missense 0.00000824●●●●●●
282. 10132241 c.180G>A p.M60I missense 0.00000824●●●●●●
283. 10163055 c.485T>G p.V162G missense 0.00000824●●●●●●
284. 10189502 c.1691A>G p.N564S missense 0.00000824●●●●●●
285. 10161167 c.349A>G p.M117V missense 0.00000824●●●●●●
286. 10186910 c.1613G>A p.S538N missense 0.00000824●●●●●●
287. 10132141 c.80C>T p.T27I missense 0.00000824●●●●●●
288. 10207031 c.2474G>A p.R825Q missense 0.00000824●●●●●●
289. 10179577 c.1345A>G p.S449G missense 0.00000824●●●●●●
290. 10197233 c.2333G>A p.R778H missense 0.00000824●●●●●●
291. 10221307 c.3161A>G p.E1054G missense 0.00000824●●●●●●
292. 10218519 c.3032G>T p.G1011V missense 0.00000824●●●●●●
293. 10197188 c.2288A>G p.H763R missense 0.00000824●●●●●●
294. 10179598 c.1366C>T p.L456F missense 0.00000824●●●●●●
295. 10161171 c.353C>T p.S118F missense 0.00000824●●●●●●
296. 10165756 c.763C>T p.P255S missense 0.00000824●●●●●●
297. 10165643 c.650G>C p.R217T missense 0.00000824●●●●●●
298. 10132138 c.77C>G p.T26S missense 0.00000824●●●●●●
299. 10207123 c.2566C>T p.R856C missense 0.00000824●●●●●●
300. 10190792 c.1832A>G p.Y611C missense 0.00000824●●●●●●
301. 10189450 c.1639G>A p.A547T missense 0.00000824●●●●●●
302. 10186927 c.1630C>G p.P544A missense 0.00000824●●●●●●
303. 10197220 c.2320C>G p.R774G missense 0.00000824●●●●●●
304. 10179634 c.1402A>T p.T468S missense 0.00000824●●●●●●
305. 10197260 c.2360A>G p.N787S missense 0.00000824●●●●●●
306. 10155632 c.325G>A p.D109N missense 0.00000824●●●●●●
307. 10211572 c.2879C>G p.P960R missense 0.00000824●●●●●●
308. 10132229 c.168T>G p.N56K missense 0.00000824●●●●●●
309. 10197250 c.2350C>T p.R784W missense 0.00000824●●●●●●
310. 10165580 c.587C>A p.S196Y missense 0.00000824●●●●●●
311. 10132242 c.181A>T p.T61S missense 0.00000824●●●●●●
312. 10207063 c.2506G>C p.D836H missense 0.00000824●●●●●●
313. 10190589 c.1727C>T p.S576F missense 0.00000824●●●●●●
314. 10190559 c.1697T>C p.V566A missense 0.00000824●●●●●●
315. 10161205 c.387G>A p.M129I missense 0.00000824●●●●●●
316. 10132176 c.115G>T p.G39W missense 0.00000824●●●●●●
317. 10132170 c.109C>T p.P37S missense 0.00000824●●●●●●
318. 10197242 c.2342G>A p.R781Q missense 0.00000824●●●●●●
319. 10190610 c.1748G>A p.R583Q missense 0.00000824●●●●●●
320. 10165759 c.766A>G p.M256V missense 0.00000824●●●●●●
321. 10197214 c.2314A>G p.S772G missense 0.00000824●●●●●●
322. 10221208 c.3062A>G p.K1021R missense 0.00000824●●●●●●
323. 10211436 c.2743C>T p.L915F missense 0.00000824●●●●●●
324. 10165693 c.700G>A p.A234T missense 0.00000824●●●●●●
325. 10165646 c.653A>G p.D218G 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.