UBE4B variants in ExAC

UBE4B gene summary
UBE4B variants in

The table below lists the UBE4B 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. 10179562 c.1339-9C>T splice site 0.00945621●●●●●●
4. 10228220 c.3225G>C p.Q1075H missense 0.00795250●●●●●●
5. 10195185 c.2165A>G p.N722S missense 0.00644295●●●●●●
6. 10161163 c.348-3A>C splice site 0.00565167●●●●●●
7. 10165771 c.778G>A p.V260M missense 0.00258888●●●●●●
8. 10161264 c.435+11G>A splice site 0.00249925●●●●●●
9. 10166437 c.992G>A p.R331H missense 0.00092090●●●●●●
10. 10163148 c.578A>G p.E193G missense 0.00083119●●●●●●
11. 10239569 c.3796C>G p.P1266A missense 0.00067759●●●●●●
12. 10166599 c.1154delG p.Ser385MetfsX10 frameshift 0.00065333●●●●●●
13. 10163087 c.517C>T p.R173W missense 0.00046163●●●●●●
14. 10166271 c.826C>T p.P276S missense 0.00038510●●●●●●
15. 10163120 c.550T>G p.S184A missense 0.00022323●●●●●●
16. 10166517 c.1072A>G p.S358G missense 0.00018354●●●●●●
17. 10166467 c.1022C>T p.S341F missense 0.00018271●●●●●●
18. 10221352 c.3198+8C>T splice site 0.00017375●●●●●●
19. 10190837 c.1877G>A p.S626N missense 0.00017299●●●●●●
20. 10165703 c.710G>A p.R237Q missense 0.00014826●●●●●●
21. 10177642 c.1322A>G p.E441G missense 0.00014380●●●●●●
22. 10190571 c.1709G>A p.R570Q missense 0.00014004●●●●●●
23. 10166389 c.944C>T p.A315V missense 0.00012427●●●●●●
24. 10132216 c.155G>A p.S52N missense 0.00012356●●●●●●
25. 10239469 c.3701-5C>T splice site 0.00011726●●●●●●
26. 10221354 c.3198+10T>C splice site 0.00011587●●●●●●
27. 10238798 c.3622G>T p.A1208S missense 0.00010733●●●●●●
28. 10179610 c.1378A>G p.I460V missense 0.00010709●●●●●●
29. 10161237 c.419G>A p.R140Q missense 0.00009897●●●●●●
30. 10221335 c.3189G>T p.Q1063H missense 0.00008253●●●●●●
31. 10166556 c.1111A>T p.R371W missense 0.00007582●●●●●●
32. 10165582 c.589G>A p.D197N missense 0.00007414●●●●●●
33. 10166583 c.1138C>T p.P380S missense 0.00006940●●●●●●
34. 10163142 c.572C>G p.P191R missense 0.00006641●●●●●●
35. 10195079 c.2059A>G p.M687V missense 0.00006603●●●●●●
36. 10190570 c.1708C>T p.R570W missense 0.00005766●●●●●●
37. 10166635 c.1190C>T p.S397F missense 0.00005529●●●●●●
38. 10166317 c.872C>T p.P291L missense 0.00004985●●●●●●
39. 10166338 c.893G>A p.R298H missense 0.00004974●●●●●●
40. 10182028 c.1448A>G p.Q483R missense 0.00004966●●●●●●
41. 10238831 c.3655G>A p.A1219T missense 0.00004956●●●●●●
42. 10205053 c.2419A>G p.T807A missense 0.00004953●●●●●●
43. 10218509 c.3022G>T p.A1008S missense 0.00004943●●●●●●
44. 10197205 c.2305A>G p.I769V missense 0.00004942●●●●●●
45. 10166625 c.1180C>G p.L394V missense 0.00004569●●●●●●
46. 10239948 c.3848-5C>T splice site 0.00004156●●●●●●
47. 10211398 c.2705C>T p.A902V missense 0.00004150●●●●●●
48. 10228281 c.3286A>G p.M1096V missense 0.00004139●●●●●●
49. 10205062 c.2428C>T p.R810C missense 0.00004126●●●●●●
50. 10132275 c.211+3A>G splice site 0.00004126●●●●●●
51. 10218504 c.3017A>G p.N1006S missense 0.00004119●●●●●●
52. 10155591 c.284C>T p.T95M missense 0.00004118●●●●●●
53. 10207124 c.2567G>A p.R856H missense 0.00004118●●●●●●
54. 10165612 c.619A>T p.M207L missense 0.00004118●●●●●●
55. 10166569 c.1124C>T p.T375M missense 0.00003405●●●●●●
56. 10195197 c.2177G>A p.R726H missense 0.00003396●●●●●●
57. 10211623 c.2926+4G>C splice site 0.00003358●●●●●●
58. 10239470 c.3701-4G>A splice site 0.00003349●●●●●●
59. 10195043 c.2026-3C>T splice site 0.00003336●●●●●●
60. 10177633 c.1313G>C p.G438A missense 0.00003334●●●●●●
61. 10166314 c.869G>T p.G290V missense 0.00003325●●●●●●
62. 10211395 c.2702A>C p.Q901P missense 0.00003322●●●●●●
63. 10166413 c.968G>A p.S323N missense 0.00003315●●●●●●
64. 10195146 c.2126C>T p.T709M missense 0.00003311●●●●●●
65. 10240013 c.3908A>G nonsense 0.00003304●●●●●●
66. 10209286 c.2636C>T p.A879V missense 0.00003301●●●●●●
67. 10163016 c.446C>T p.S149L missense 0.00003300●●●●●●
68. 10155527 c.220C>T p.H74Y missense 0.00003296●●●●●●
69. 10155522 c.215T>G p.V72G missense 0.00003296●●●●●●
70. 10207147 c.2590G>A p.D864N missense 0.00003295●●●●●●
71. 10132204 c.143G>A p.G48E missense 0.00003295●●●●●●
72. 10207146 c.2589C>T splice site 0.00003295●●●●●●
73. 10197224 c.2324G>A p.R775H missense 0.00003295●●●●●●
74. 10197163 c.2263A>T p.T755S missense 0.00003295●●●●●●
75. 10155567 c.260G>C p.S87T missense 0.00003295●●●●●●
76. 10166251 c.810-4T>C splice site 0.00002655●●●●●●
77. 10166589 c.1144G>A p.A382T missense 0.00002622●●●●●●
78. 10166305 c.860C>T p.P287L missense 0.00002501●●●●●●
79. 10166431 c.986G>T p.R329L missense 0.00002488●●●●●●
80. 10166428 c.983C>T p.P328L missense 0.00002487●●●●●●
81. 10239542 c.3769A>G p.I1257V missense 0.00002486●●●●●●
82. 10239980 c.3875C>T p.A1292V missense 0.00002482●●●●●●
83. 10161248 c.430_431insATA p.Asp144_Lys145insAsn inframe 0.00002478●●●●●●
84. 10239594 c.3821C>T p.T1274M missense 0.00002478●●●●●●
85. 10239599 c.3826A>G p.T1276A missense 0.00002478●●●●●●
86. 10192508 c.1993G>A p.V665I missense 0.00002477●●●●●●
87. 10238808 c.3632T>C p.V1211A missense 0.00002476●●●●●●
88. 10163009 c.439C>G p.P147A missense 0.00002476●●●●●●
89. 10165768 c.775A>G p.S259G missense 0.00002473●●●●●●
90. 10132174 c.113C>T p.P38L missense 0.00002472●●●●●●
91. 10211446 c.2753T>C p.M918T missense 0.00002472●●●●●●
92. 10165739 c.746C>G p.S249C missense 0.00002471●●●●●●
93. 10197247 c.2347A>G p.I783V missense 0.00002471●●●●●●
94. 10207138 c.2581G>A p.A861T missense 0.00002471●●●●●●
95. 10179613 c.1381C>T p.R461C missense 0.00002471●●●●●●
96. 10155547 c.240A>C p.E80D missense 0.00002471●●●●●●
97. 10132185 c.124A>G p.I42V missense 0.00002471●●●●●●
98. 10179614 c.1382G>A p.R461H missense 0.00002471●●●●●●
99. 10166613 c.1168C>T p.R390C missense 0.00001799●●●●●●
100. 10166605 c.1160C>T p.T387M missense 0.00001784●●●●●●
101. 10166571 c.1126G>C p.G376R missense 0.00001705●●●●●●
102. 10205016 c.2382A>T p.K794N missense 0.00001690●●●●●●
103. 10238878 c.3700+2C>T essential splice site 0.00001687●●●●●●
104. 10182142 c.1554+8C>T splice site 0.00001673●●●●●●
105. 10166502 c.1057C>A p.P353T missense 0.00001665●●●●●●
106. 10166488 c.1043C>T p.S348L missense 0.00001663●●●●●●
107. 10209336 c.2686G>A p.V896I missense 0.00001662●●●●●●
108. 10166475 c.1030G>A p.V344I missense 0.00001662●●●●●●
109. 10166445 c.1000A>G p.T334A missense 0.00001660●●●●●●
110. 10166454 c.1009C>T p.H337Y missense 0.00001660●●●●●●
111. 10166436 c.991C>T p.R331C missense 0.00001659●●●●●●
112. 10166431 c.986G>A p.R329Q missense 0.00001659●●●●●●
113. 10186852 c.1555A>G p.I519V missense 0.00001659●●●●●●
114. 10166428 c.983C>A p.P328Q missense 0.00001658●●●●●●
115. 10192529 c.2014G>A p.A672T missense 0.00001658●●●●●●
116. 10166415 c.970C>T p.Q324X nonsense 0.00001657●●●●●●
117. 10166385 c.940A>G p.S314G missense 0.00001657●●●●●●
118. 10195143 c.2123C>T p.P708L missense 0.00001655●●●●●●
119. 10238837 c.3661G>A p.A1221T missense 0.00001653●●●●●●
120. 10238835 c.3659G>A p.R1220H missense 0.00001653●●●●●●
121. 10228216 c.3221C>T p.S1074F missense 0.00001652●●●●●●
122. 10205105 c.2463+8T>C splice site 0.00001652●●●●●●
123. 10238814 c.3638A>C p.E1213A missense 0.00001651●●●●●●
124. 10228237 c.3242G>A p.R1081H missense 0.00001651●●●●●●
125. 10205078 c.2444G>A p.R815H missense 0.00001650●●●●●●
126. 10205063 c.2429G>A p.R810H missense 0.00001650●●●●●●
127. 10209274 c.2624A>G p.K875R missense 0.00001650●●●●●●
128. 10163021 c.451C>A p.P151T missense 0.00001649●●●●●●
129. 10163019 c.449G>T p.G150V missense 0.00001649●●●●●●
130. 10211436 c.2743C>A p.L915I missense 0.00001649●●●●●●
131. 10165747 c.754G>A p.G252R missense 0.00001648●●●●●●
132. 10186907 c.1610A>C p.D537A missense 0.00001648●●●●●●
133. 10190827 c.1867C>T p.R623C missense 0.00001648●●●●●●
134. 10197152 c.2252C>T p.P751L missense 0.00001648●●●●●●
135. 10132201 c.140C>A p.P47Q missense 0.00001648●●●●●●
136. 10207147 c.2590G>T p.D864Y missense 0.00001648●●●●●●
137. 10190828 c.1868G>A p.R623H missense 0.00001648●●●●●●
138. 10186906 c.1609G>A p.D537N missense 0.00001648●●●●●●
139. 10163048 c.478C>A p.Q160K missense 0.00001648●●●●●●
140. 10189492 c.1681C>G p.P561A missense 0.00001648●●●●●●
141. 10165627 c.634A>T p.M212L missense 0.00001647●●●●●●
142. 10165621 c.628C>A p.L210I missense 0.00001647●●●●●●
143. 10190639 c.1777G>A p.A593T missense 0.00001647●●●●●●
144. 10197220 c.2320C>T p.R774C missense 0.00001647●●●●●●
145. 10165702 c.709C>T p.R237W missense 0.00001647●●●●●●
146. 10165675 c.682A>G p.T228A missense 0.00001647●●●●●●
147. 10231282 c.3420C>A p.N1140K missense 0.00001647●●●●●●
148. 10211502 c.2809G>A p.V937I missense 0.00001647●●●●●●
149. 10197199 c.2299C>T p.L767F missense 0.00001647●●●●●●
150. 10165697 c.704C>T p.A235V missense 0.00001647●●●●●●
151. 10195251 c.2224+7A>G splice site 0.00001069●●●●●●
152. 10204990 c.2364-8G>T splice site 0.00000997●●●●●●
153. 10195238 c.2218G>A p.E740K missense 0.00000989●●●●●●
154. 10166648 c.1196+7A>G splice site 0.00000932●●●●●●
155. 10166644 c.1196+3A>T splice site 0.00000928●●●●●●
156. 10166631 c.1186A>C p.I396L missense 0.00000918●●●●●●
157. 10166614 c.1169G>A p.R390H missense 0.00000901●●●●●●
158. 10166602 c.1157C>T p.A386V missense 0.00000887●●●●●●
159. 10166602 c.1157C>G p.A386G missense 0.00000887●●●●●●
160. 10166254 c.810-1G>A essential splice site 0.00000881●●●●●●
161. 10166593 c.1148C>T p.S383L missense 0.00000879●●●●●●
162. 10195209 c.2189C>T p.T730M missense 0.00000870●●●●●●
163. 10166260 c.815A>G p.Y272C missense 0.00000870●●●●●●
164. 10166272 c.827C>T p.P276L missense 0.00000855●●●●●●
165. 10195196 c.2176C>T p.R726C missense 0.00000849●●●●●●
166. 10166275 c.830C>T p.A277V missense 0.00000849●●●●●●
167. 10093742 c.14G>A p.S5N missense 0.00000846●●●●●●
168. 10238880 c.3700+4A>C splice site 0.00000844●●●●●●
169. 10166558 c.1113G>C p.R371S missense 0.00000843●●●●●●
170. 10166557 c.1112G>A p.R371K missense 0.00000842●●●●●●
171. 10231190 c.3334-6T>C splice site 0.00000841●●●●●●
172. 10192544 c.2025+4G>A splice site 0.00000840●●●●●●
173. 10166538 c.1093G>A p.A365T missense 0.00000838●●●●●●
174. 10132083 c.25-3T>C splice site 0.00000838●●●●●●
175. 10166539 c.1094C>T p.A365V missense 0.00000838●●●●●●
176. 10205022 c.2388T>A p.N796K missense 0.00000837●●●●●●
177. 10166296 c.851G>A p.S284N missense 0.00000836●●●●●●
178. 10211376 c.2691-8C>T splice site 0.00000836●●●●●●
179. 10239475 c.3702C>T splice site 0.00000836●●●●●●
180. 10182138 c.1554+4C>T splice site 0.00000835●●●●●●
181. 10166524 c.1079C>G p.P360R missense 0.00000835●●●●●●
182. 10228303 c.3308A>T p.Q1103L missense 0.00000834●●●●●●
183. 10239491 c.3718C>G p.L1240V missense 0.00000834●●●●●●
184. 10228303 c.3308A>G p.Q1103R missense 0.00000834●●●●●●
185. 10166514 c.1069G>A p.A357T missense 0.00000834●●●●●●
186. 10238736 c.3560T>C p.I1187T missense 0.00000834●●●●●●
187. 10166511 c.1066C>T p.L356F missense 0.00000833●●●●●●
188. 10239506 c.3733G>A p.V1245M missense 0.00000833●●●●●●
189. 10166502 c.1057C>G p.P353A missense 0.00000832●●●●●●
190. 10195170 c.2150G>A p.R717Q missense 0.00000832●●●●●●
191. 10166310 c.865A>G p.M289V missense 0.00000832●●●●●●
192. 10239512 c.3739C>G p.L1247V missense 0.00000832●●●●●●
193. 10195046 c.2026A>C p.T676P missense 0.00000831●●●●●●
194. 10166473 c.1028G>T p.G343V missense 0.00000831●●●●●●
195. 10239953 c.3848T>C p.V1283A missense 0.00000831●●●●●●
196. 10195164 c.2144G>C p.R715T missense 0.00000831●●●●●●
197. 10177617 c.1297T>A p.C433S missense 0.00000830●●●●●●
198. 10195160 c.2140C>T p.P714S missense 0.00000830●●●●●●
199. 10228187 c.3199-7G>A splice site 0.00000830●●●●●●
200. 10166320 c.875C>G p.S292C missense 0.00000830●●●●●●
201. 10132092 c.31C>T p.R11W missense 0.00000830●●●●●●
202. 10228290 c.3295A>C p.I1099L missense 0.00000830●●●●●●
203. 10239956 c.3851C>T p.P1284L missense 0.00000830●●●●●●
204. 10239537 c.3764G>A p.R1255H missense 0.00000829●●●●●●
205. 10239971 c.3866A>G p.Q1289R missense 0.00000829●●●●●●
206. 10209235 c.2592-7T>C splice site 0.00000829●●●●●●
207. 10166338 c.893G>T p.R298L missense 0.00000829●●●●●●
208. 10166335 c.890C>G p.S297C missense 0.00000829●●●●●●
209. 10177608 c.1288C>T p.L430F missense 0.00000829●●●●●●
210. 10166397 c.952G>A p.G318R missense 0.00000829●●●●●●
211. 10166379 c.934C>T p.P312S missense 0.00000829●●●●●●
212. 10166337 c.892C>T p.R298C missense 0.00000829●●●●●●
213. 10166401 c.956C>G p.T319S missense 0.00000829●●●●●●
214. 10166331 c.886C>A p.P296T missense 0.00000829●●●●●●
215. 10177594 c.1274A>G p.D425G missense 0.00000828●●●●●●
216. 10166371 c.926C>T p.P309L missense 0.00000828●●●●●●
217. 10211409 c.2716C>T p.P906S missense 0.00000828●●●●●●
218. 10186856 c.1559T>G p.F520C missense 0.00000828●●●●●●
219. 10177591 c.1271C>G p.T424R missense 0.00000828●●●●●●
220. 10238846 c.3670G>A p.D1224N missense 0.00000828●●●●●●
221. 10205035 c.2401A>G p.K801E missense 0.00000828●●●●●●
222. 10239991 c.3886G>C p.E1296Q missense 0.00000827●●●●●●
223. 10221192 c.3054-8_3054-7insT splice site 0.00000827●●●●●●
224. 10238771 c.3595A>G p.I1199V missense 0.00000827●●●●●●
225. 10221192 c.3054-8C>T splice site 0.00000827●●●●●●
226. 10231395 c.3525+8A>G splice site 0.00000827●●●●●●
227. 10177579 c.1259C>T p.T420I missense 0.00000827●●●●●●
228. 10163123 c.553G>C p.A185P missense 0.00000827●●●●●●
229. 10238843 c.3667A>G p.I1223V missense 0.00000827●●●●●●
230. 10239986 c.3881T>A p.M1294K missense 0.00000827●●●●●●
231. 10209315 c.2665G>A p.A889T missense 0.00000827●●●●●●
232. 10238798 c.3622G>A p.A1208T missense 0.00000826●●●●●●
233. 10221343 c.3197G>A p.R1066Q missense 0.00000826●●●●●●
234. 10163115 c.545C>T p.S182F missense 0.00000826●●●●●●
235. 10228243 c.3248C>G p.S1083C missense 0.00000826●●●●●●
236. 10182034 c.1454C>T p.P485L missense 0.00000826●●●●●●
237. 10186868 c.1571T>A p.L524X nonsense 0.00000826●●●●●●
238. 10228249 c.3254C>G p.S1085C missense 0.00000826●●●●●●
239. 10240001 c.3896A>G p.N1299S missense 0.00000826●●●●●●
240. 10239600 c.3827C>T p.T1276I missense 0.00000826●●●●●●
241. 10239573 c.3800C>T p.T1267M missense 0.00000826●●●●●●
242. 10205044 c.2410C>T p.P804S missense 0.00000826●●●●●●
243. 10228210 c.3215G>A p.R1072H missense 0.00000826●●●●●●
244. 10238822 c.3646G>A p.A1216T missense 0.00000826●●●●●●
245. 10238777 c.3601A>G p.I1201V missense 0.00000826●●●●●●
246. 10228245 c.3250C>T p.R1084C missense 0.00000826●●●●●●
247. 10186862 c.1565C>G p.P522R missense 0.00000826●●●●●●
248. 10238832 c.3656C>T p.A1219V missense 0.00000826●●●●●●
249. 10218543 c.3053+3G>A splice site 0.00000826●●●●●●
250. 10228246 c.3251G>A p.R1084H missense 0.00000826●●●●●●
251. 10221342 c.3196C>T p.R1066W missense 0.00000826●●●●●●
252. 10186866 c.1569T>G p.I523M missense 0.00000826●●●●●●
253. 10132124 c.63G>C p.Q21H missense 0.00000825●●●●●●
254. 10192500 c.1985C>A p.A662E missense 0.00000825●●●●●●
255. 10205057 c.2423G>A p.R808K missense 0.00000825●●●●●●
256. 10155511 c.212-8C>G splice site 0.00000825●●●●●●
257. 10177555 c.1235A>G p.Y412C missense 0.00000825●●●●●●
258. 10192500 c.1985C>T p.A662V missense 0.00000825●●●●●●
259. 10186944 c.1638+9T>C splice site 0.00000825●●●●●●
260. 10177524 c.1204G>A p.A402T missense 0.00000825●●●●●●
261. 10209290 c.2640G>T p.L880F missense 0.00000825●●●●●●
262. 10205081 c.2447G>T p.C816F missense 0.00000825●●●●●●
263. 10161240 c.422G>A p.S141N missense 0.00000825●●●●●●
264. 10177533 c.1213G>C p.G405R missense 0.00000825●●●●●●
265. 10186930 c.1633C>T p.L545F missense 0.00000825●●●●●●
266. 10182048 c.1468C>T p.P490S missense 0.00000825●●●●●●
267. 10192484 c.1969G>T p.A657S missense 0.00000825●●●●●●
268. 10186871 c.1574A>G p.Q525R missense 0.00000825●●●●●●
269. 10221335 c.3189G>C p.Q1063H missense 0.00000825●●●●●●
270. 10177534 c.1214G>T p.G405V missense 0.00000825●●●●●●
271. 10205077 c.2443C>T p.R815C missense 0.00000825●●●●●●
272. 10186931 c.1634T>C p.L545P missense 0.00000825●●●●●●
273. 10182049 c.1469C>T p.P490L missense 0.00000825●●●●●●
274. 10177542 c.1222A>G p.N408D missense 0.00000825●●●●●●
275. 10197174 c.2274C>G p.F758L missense 0.00000824●●●●●●
276. 10132198 c.137C>T p.A46V missense 0.00000824●●●●●●
277. 10207031 c.2474G>A p.R825Q missense 0.00000824●●●●●●
278. 10190583 c.1721C>T p.P574L missense 0.00000824●●●●●●
279. 10161167 c.349A>G p.M117V missense 0.00000824●●●●●●
280. 10207124 c.2567G>T p.R856L missense 0.00000824●●●●●●
281. 10207087 c.2530C>G p.L844V missense 0.00000824●●●●●●
282. 10132260 c.199A>G p.I67V missense 0.00000824●●●●●●
283. 10132241 c.180G>A p.M60I missense 0.00000824●●●●●●
284. 10190770 c.1813-3C>T splice site 0.00000824●●●●●●
285. 10221307 c.3161A>G p.E1054G missense 0.00000824●●●●●●
286. 10197212 c.2312C>T p.P771L missense 0.00000824●●●●●●
287. 10179614 c.1382G>T p.R461L missense 0.00000824●●●●●●
288. 10132186 c.125T>C p.I42T missense 0.00000824●●●●●●
289. 10211526 c.2833G>A p.V945I missense 0.00000824●●●●●●
290. 10163055 c.485T>G p.V162G missense 0.00000824●●●●●●
291. 10197241 c.2341C>T p.R781W missense 0.00000824●●●●●●
292. 10189502 c.1691A>G p.N564S missense 0.00000824●●●●●●
293. 10197233 c.2333G>A p.R778H missense 0.00000824●●●●●●
294. 10132212 c.151C>G p.Q51E missense 0.00000824●●●●●●
295. 10179577 c.1345A>G p.S449G missense 0.00000824●●●●●●
296. 10189444 c.1639-6T>A splice site 0.00000824●●●●●●
297. 10179581 c.1349A>C p.Q450P missense 0.00000824●●●●●●
298. 10165756 c.763C>T p.P255S missense 0.00000824●●●●●●
299. 10132141 c.80C>T p.T27I missense 0.00000824●●●●●●
300. 10218519 c.3032G>T p.G1011V missense 0.00000824●●●●●●
301. 10197188 c.2288A>G p.H763R missense 0.00000824●●●●●●
302. 10179598 c.1366C>T p.L456F missense 0.00000824●●●●●●
303. 10165643 c.650G>C p.R217T missense 0.00000824●●●●●●
304. 10211574 c.2881C>G p.L961V missense 0.00000824●●●●●●
305. 10161171 c.353C>T p.S118F missense 0.00000824●●●●●●
306. 10207123 c.2566C>T p.R856C missense 0.00000824●●●●●●
307. 10190792 c.1832A>G p.Y611C missense 0.00000824●●●●●●
308. 10190589 c.1727C>T p.S576F missense 0.00000824●●●●●●
309. 10165732 c.739A>G p.T247A missense 0.00000824●●●●●●
310. 10186927 c.1630C>G p.P544A missense 0.00000824●●●●●●
311. 10132242 c.181A>T p.T61S missense 0.00000824●●●●●●
312. 10190610 c.1748G>A p.R583Q missense 0.00000824●●●●●●
313. 10189450 c.1639G>A p.A547T missense 0.00000824●●●●●●
314. 10132176 c.115G>T p.G39W missense 0.00000824●●●●●●
315. 10165568 c.581-6C>T splice site 0.00000824●●●●●●
316. 10197220 c.2320C>G p.R774G missense 0.00000824●●●●●●
317. 10197214 c.2314A>G p.S772G missense 0.00000824●●●●●●
318. 10179634 c.1402A>T p.T468S missense 0.00000824●●●●●●
319. 10211572 c.2879C>G p.P960R missense 0.00000824●●●●●●
320. 10165693 c.700G>A p.A234T missense 0.00000824●●●●●●
321. 10165580 c.587C>A p.S196Y missense 0.00000824●●●●●●
322. 10163070 c.500G>A p.R167H missense 0.00000824●●●●●●
323. 10155632 c.325G>A p.D109N missense 0.00000824●●●●●●
324. 10197250 c.2350C>T p.R784W missense 0.00000824●●●●●●
325. 10207063 c.2506G>C p.D836H missense 0.00000824●●●●●●
326. 10231288 c.3426G>T p.E1142D missense 0.00000824●●●●●●
327. 10190559 c.1697T>C p.V566A missense 0.00000824●●●●●●
328. 10161205 c.387G>A p.M129I missense 0.00000824●●●●●●
329. 10190674 c.1812T>C splice site 0.00000824●●●●●●
330. 10197242 c.2342G>A p.R781Q missense 0.00000824●●●●●●
331. 10132229 c.168T>G p.N56K missense 0.00000824●●●●●●
332. 10221208 c.3062A>G p.K1021R missense 0.00000824●●●●●●
333. 10165759 c.766A>G p.M256V missense 0.00000824●●●●●●
334. 10132170 c.109C>T p.P37S missense 0.00000824●●●●●●
335. 10165646 c.653A>G p.D218G missense 0.00000824●●●●●●
336. 10132239 c.178A>G p.M60V missense 0.00000824●●●●●●
337. 10211436 c.2743C>T p.L915F missense 0.00000824●●●●●●
338. 10190800 c.1840G>A p.G614R missense 0.00000824●●●●●●
339. 10190621 c.1759A>G p.R587G missense 0.00000824●●●●●●
340. 10231244 c.3382C>T p.L1128F missense 0.00000824●●●●●●
341. 10189457 c.1646G>C p.G549A missense 0.00000824●●●●●●
342. 10221321 c.3175G>C p.E1059Q missense 0.00000824●●●●●●
343. 10197260 c.2360A>G p.N787S missense 0.00000824●●●●●●
344. 10197217 c.2317T>G p.C773G missense 0.00000824●●●●●●
345. 10179638 c.1406C>T p.A469V missense 0.00000824●●●●●●
346. 10132206 c.145C>G p.P49A missense 0.00000824●●●●●●
347. 10165716 c.723A>C p.R241S missense 0.00000824●●●●●●
348. 10197221 c.2321G>A p.R774H missense 0.00000824●●●●●●
349. 10163083 c.513G>T p.K171N missense 0.00000824●●●●●●
350. 10207027 c.2470G>A p.V824I missense 0.00000824●●●●●●
351. 10161221 c.403G>A p.D135N missense 0.00000824●●●●●●
352. 10155644 c.337T>C p.C113R missense 0.00000824●●●●●●
353. 10207066 c.2509G>A p.E837K missense 0.00000824●●●●●●
354. 10132240 c.179T>C p.M60T missense 0.00000824●●●●●●
355. 10186910 c.1613G>A p.S538N missense 0.00000824●●●●●●
356. 10190769 c.1813-4C>A splice site 0.00000824●●●●●●
357. 10186897 c.1600T>C p.C534R missense 0.00000824●●●●●●
358. 10132260 c.199A>T p.I67L missense 0.00000824●●●●●●
359. 10221286 c.3140G>A p.R1047Q missense 0.00000824●●●●●●
360. 10132173 c.112C>T p.P38S missense 0.00000824●●●●●●
361. 10165666 c.673C>G p.L225V missense 0.00000824●●●●●●
362. 10211520 c.2827C>T p.P943S missense 0.00000824●●●●●●
363. 10132245 c.184C>T p.P62S missense 0.00000824●●●●●●
364. 10163042 c.472G>A p.A158T missense 0.00000824●●●●●●
365. 10207135 c.2578C>T p.P860S missense 0.00000824●●●●●●
366. 10190801 c.1841G>T p.G614V missense 0.00000824●●●●●●
367. 10197126 c.2226T>C splice site 0.00000824●●●●●●
368. 10231262 c.3400C>T p.R1134C missense 0.00000824●●●●●●
369. 10132138 c.77C>G p.T26S missense 0.00000824●●●●●●
370. 10207151 c.2591+3G>A splice site 0.00000824●●●●●●
371. 10179664 c.1432C>G p.Q478E missense 0.00000824●●●●●●
372. 10132209 c.148T>C p.S50P missense 0.00000824●●●●●●
373. 10197232 c.2332C>T p.R778C 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.