SALL4 variants in ExAC

SALL4 gene summary
SALL4 variants in

The table below lists the SALL4 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. 50407502 c.1520T>G p.L507R missense 0.35056334●●●●●●
2. 50406630 c.2392A>C p.I798L missense 0.05098375●●●●●●
3. 50406840 c.2182G>C p.A728P missense 0.00718872●●●●●●
4. 50406732 c.2290T>C p.S764P missense 0.00374723●●●●●●
5. 50406807 c.2215G>T p.A739S missense 0.00245940●●●●●●
6. 50408673 c.349G>A p.G117R missense 0.00172502●●●●●●
7. 50407735 c.1287T>G p.F429L missense 0.00096571●●●●●●
8. 50406965 c.2057_2059delATG p.D686_V687delinsV inframe 0.00075027●●●●●●
9. 50405659 c.2483C>T p.T828M missense 0.00062823●●●●●●
10. 50406984 c.2038G>A p.G680S missense 0.00051941●●●●●●
11. 50406804 c.2218C>G p.P740A missense 0.00049513●●●●●●
12. 50408481 c.541G>A p.V181M missense 0.00042841●●●●●●
13. 50408493 c.529G>A p.A177T missense 0.00042017●●●●●●
14. 50400863 c.3103G>A p.G1035S missense 0.00033771●●●●●●
15. 50408694 c.328G>A p.V110M missense 0.00027257●●●●●●
16. 50400989 c.2977G>A p.G993R missense 0.00027182●●●●●●
17. 50406860 c.2162C>T p.T721M missense 0.00015692●●●●●●
18. 50406981 c.2041G>A p.A681T missense 0.00014016●●●●●●
19. 50408256 c.766A>G p.T256A missense 0.00013372●●●●●●
20. 50406612 c.2410G>A p.D804N missense 0.00013181●●●●●●
21. 50406762 c.2260G>A p.V754M missense 0.00012388●●●●●●
22. 50407919 c.1103C>T p.A368V missense 0.00012358●●●●●●
23. 50400904 c.3062C>T p.S1021L missense 0.00012355●●●●●●
24. 50407273 c.1749G>T p.M583I missense 0.00011531●●●●●●
25. 50408036 c.986G>A p.R329H missense 0.00010779●●●●●●
26. 50407455 c.1567G>C p.G523R missense 0.00010726●●●●●●
27. 50407392 c.1630C>T p.P544S missense 0.00010717●●●●●●
28. 50407673 c.1349C>T p.A450V missense 0.00009911●●●●●●
29. 50407652 c.1370A>G p.Y457C missense 0.00009902●●●●●●
30. 50407518 c.1504T>C p.S502P missense 0.00009893●●●●●●
31. 50407631 c.1391C>T p.P464L missense 0.00009071●●●●●●
32. 50407151 c.1871C>T p.T624M missense 0.00009067●●●●●●
33. 50405569 c.2573T>G p.L858W missense 0.00009063●●●●●●
34. 50400989 c.2977G>T p.G993W missense 0.00009061●●●●●●
35. 50400989 c.2977G>C p.G993R missense 0.00008237●●●●●●
36. 50400902 c.3064G>C p.G1022R missense 0.00008237●●●●●●
37. 50418898 c.50_51insGGA p.D17delinsED inframe 0.00008039●●●●●●
38. 50408004 c.1018G>A p.G340S missense 0.00007452●●●●●●
39. 50407445 c.1577C>T p.P526L missense 0.00007425●●●●●●
40. 50406941 c.2081A>C p.E694A missense 0.00007425●●●●●●
41. 50408705 c.317G>A p.S106N missense 0.00006610●●●●●●
42. 50407619 c.1403C>T p.P468L missense 0.00006596●●●●●●
43. 50407504 c.1518C>G p.D506E missense 0.00006596●●●●●●
44. 50407664 c.1358A>G p.N453S missense 0.00005791●●●●●●
45. 50401213 c.2753T>C p.M918T missense 0.00005773●●●●●●
46. 50406973 c.2049C>G p.C683W missense 0.00005771●●●●●●
47. 50400894 c.3072T>A p.S1024R missense 0.00005766●●●●●●
48. 50400935 c.3031G>A p.A1011T missense 0.00005766●●●●●●
49. 50408805 c.217G>A p.V73I missense 0.00004999●●●●●●
50. 50408061 c.961C>T p.R321W missense 0.00004971●●●●●●
51. 50408019 c.1003C>T p.L335F missense 0.00004971●●●●●●
52. 50406765 c.2257T>G p.S753A missense 0.00004955●●●●●●
53. 50406789 c.2233C>T p.R745C missense 0.00004954●●●●●●
54. 50408447 c.575C>A p.A192E missense 0.00004948●●●●●●
55. 50407425 c.1597G>T p.A533S missense 0.00004948●●●●●●
56. 50401156 c.2810A>G p.N937S missense 0.00004942●●●●●●
57. 50408037 c.985C>T p.R329C missense 0.00004145●●●●●●
58. 50406573 c.2449A>G p.T817A missense 0.00004131●●●●●●
59. 50406575 c.2447G>A p.R816H missense 0.00004130●●●●●●
60. 50406908 c.2114C>G p.S705C missense 0.00004130●●●●●●
61. 50406792 c.2230C>A p.Q744K missense 0.00004127●●●●●●
62. 50408640 c.382G>A p.G128S missense 0.00004123●●●●●●
63. 50407550 c.1472C>T p.S491L missense 0.00004121●●●●●●
64. 50406653 c.2369C>T p.P790L missense 0.00004121●●●●●●
65. 50408582 c.440C>T p.P147L missense 0.00004121●●●●●●
66. 50407285 c.1737C>G p.S579R missense 0.00004118●●●●●●
67. 50418818 c.130G>A p.G44S missense 0.00003771●●●●●●
68. 50418829 c.119C>T p.A40V missense 0.00003528●●●●●●
69. 50408819 c.203G>A p.R68Q missense 0.00003346●●●●●●
70. 50408820 c.202C>T p.R68W missense 0.00003346●●●●●●
71. 50408387 c.635C>T p.P212L missense 0.00003331●●●●●●
72. 50406555 c.2461+6A>G splice site 0.00003323●●●●●●
73. 50405677 c.2465G>A p.R822Q missense 0.00003320●●●●●●
74. 50408072 c.950C>T p.P317L missense 0.00003314●●●●●●
75. 50401228 c.2743-5C>T splice site 0.00003305●●●●●●
76. 50401227 c.2743-4A>G splice site 0.00003305●●●●●●
77. 50401226 c.2743-3T>C splice site 0.00003304●●●●●●
78. 50406788 c.2234G>A p.R745H missense 0.00003303●●●●●●
79. 50407474 c.1548G>T p.E516D missense 0.00003300●●●●●●
80. 50407473 c.1549G>A p.G517S missense 0.00003300●●●●●●
81. 50407952 c.1070A>G p.K357R missense 0.00003298●●●●●●
82. 50406986 c.2036C>G p.T679S missense 0.00003298●●●●●●
83. 50401201 c.2765C>T p.A922V missense 0.00003297●●●●●●
84. 50408595 c.427A>G p.M143V missense 0.00003297●●●●●●
85. 50407104 c.1918A>T p.M640L missense 0.00003297●●●●●●
86. 50400814 c.3152C>T p.A1051V missense 0.00003296●●●●●●
87. 50400860 c.3106G>A p.V1036I missense 0.00003295●●●●●●
88. 50401036 c.2930A>G p.N977S missense 0.00003295●●●●●●
89. 50401067 c.2899G>A p.V967I missense 0.00003295●●●●●●
90. 50401031 c.2935G>A p.G979S missense 0.00003295●●●●●●
91. 50400932 c.3034A>G p.T1012A missense 0.00003295●●●●●●
92. 50407913 c.1109A>G p.D370G missense 0.00003295●●●●●●
93. 50418812 c.130+6dupT splice site 0.00002595●●●●●●
94. 50408810 c.212C>T p.T71M missense 0.00002504●●●●●●
95. 50408409 c.613G>A p.V205M missense 0.00002488●●●●●●
96. 50408429 c.593C>T p.A198V missense 0.00002478●●●●●●
97. 50407692 c.1330G>A p.E444K missense 0.00002478●●●●●●
98. 50406890 c.2132C>T p.P711L missense 0.00002478●●●●●●
99. 50405644 c.2498C>T p.P833L missense 0.00002477●●●●●●
100. 50408430 c.592G>A p.A198T missense 0.00002477●●●●●●
101. 50406929 c.2093C>T p.S698F missense 0.00002476●●●●●●
102. 50408675 c.347C>T p.S116F missense 0.00002476●●●●●●
103. 50408436 c.586C>T p.R196W missense 0.00002475●●●●●●
104. 50408610 c.412G>A p.G138S missense 0.00002474●●●●●●
105. 50407526 c.1496C>T p.T499M missense 0.00002473●●●●●●
106. 50407949 c.1073A>G p.K358R missense 0.00002473●●●●●●
107. 50408576 c.446C>T p.A149V missense 0.00002473●●●●●●
108. 50405627 c.2515G>T p.V839F missense 0.00002473●●●●●●
109. 50405596 c.2546C>T p.S849L missense 0.00002472●●●●●●
110. 50405564 c.2578G>A p.A860T missense 0.00002472●●●●●●
111. 50400817 c.3149T>C p.I1050T missense 0.00002472●●●●●●
112. 50408496 c.526G>A p.V176M missense 0.00002472●●●●●●
113. 50401045 c.2921G>A p.S974N missense 0.00002471●●●●●●
114. 50400992 c.2974A>G p.S992G missense 0.00002471●●●●●●
115. 50401184 c.2782C>T p.R928C missense 0.00002471●●●●●●
116. 50401003 c.2963C>A p.S988Y missense 0.00002471●●●●●●
117. 50400956 c.3010delG p.Ala1004ProfsTer5 frameshift 0.00002471●●●●●●
118. 50407266 c.1756C>G p.R586G missense 0.00002471●●●●●●
119. 50400962 c.3004T>A p.L1002M missense 0.00002471●●●●●●
120. 50401096 c.2870_2871insGGAAAT p.Glu956_Ile957insMetGlu inframe 0.00002471●●●●●●
121. 50418874 c.74A>T p.Q25L missense 0.00001869●●●●●●
122. 50408894 c.131-3C>A splice site 0.00001730●●●●●●
123. 50408846 c.176A>G p.D59G missense 0.00001687●●●●●●
124. 50408838 c.184A>G p.T62A missense 0.00001681●●●●●●
125. 50408376 c.646G>C p.E216Q missense 0.00001672●●●●●●
126. 50408051 c.971C>T p.P324L missense 0.00001658●●●●●●
127. 50405669 c.2473C>T p.L825F missense 0.00001657●●●●●●
128. 50407668 c.1354G>A p.G452S missense 0.00001655●●●●●●
129. 50408160 c.862G>T p.A288S missense 0.00001655●●●●●●
130. 50408711 c.311A>C p.N104T missense 0.00001653●●●●●●
131. 50408715 c.307A>G p.M103V missense 0.00001653●●●●●●
132. 50408697 c.325C>T p.P109S missense 0.00001652●●●●●●
133. 50406836 c.2186C>T p.S729F missense 0.00001651●●●●●●
134. 50406948 c.2074G>A p.D692N missense 0.00001650●●●●●●
135. 50406698 c.2324G>A p.R775Q missense 0.00001650●●●●●●
136. 50407817 c.1205G>A p.R402H missense 0.00001650●●●●●●
137. 50405636 c.2506T>A p.Y836N missense 0.00001650●●●●●●
138. 50405617 c.2525C>T p.P842L missense 0.00001649●●●●●●
139. 50407404 c.1618G>A p.G540R missense 0.00001649●●●●●●
140. 50406585 c.2437G>A p.E813K missense 0.00001649●●●●●●
141. 50407512 c.1510C>G p.P504A missense 0.00001649●●●●●●
142. 50407419 c.1603G>A p.G535S missense 0.00001649●●●●●●
143. 50407534 c.1488G>C p.K496N missense 0.00001649●●●●●●
144. 50407395 c.1627G>A p.E543K missense 0.00001649●●●●●●
145. 50406593 c.2429A>G p.E810G missense 0.00001648●●●●●●
146. 50401177 c.2789delG p.Gly930GlufsTer13 frameshift 0.00001648●●●●●●
147. 50408537 c.485C>T p.P162L missense 0.00001648●●●●●●
148. 50408486 c.536C>G p.T179S missense 0.00001648●●●●●●
149. 50406656 c.2366C>T p.S789F missense 0.00001648●●●●●●
150. 50406647 c.2375A>G p.N792S missense 0.00001648●●●●●●
151. 50407217 c.1805C>A p.A602D missense 0.00001648●●●●●●
152. 50401202 c.2764delG p.Ala922ArgfsTer21 frameshift 0.00001648●●●●●●
153. 50405522 c.2620C>T p.R874W missense 0.00001648●●●●●●
154. 50401178 c.2788G>C p.G930R missense 0.00001648●●●●●●
155. 50406653 c.2369C>G p.P790R missense 0.00001648●●●●●●
156. 50407296 c.1726A>G p.S576G missense 0.00001647●●●●●●
157. 50407316 c.1706T>G p.L569R missense 0.00001647●●●●●●
158. 50401136 c.2830A>G p.T944A missense 0.00001647●●●●●●
159. 50407284 c.1738T>G p.S580A missense 0.00001647●●●●●●
160. 50401022 c.2944G>A p.V982M missense 0.00001647●●●●●●
161. 50400953 c.3013A>G p.T1005A missense 0.00001647●●●●●●
162. 50401064 c.2902G>T p.V968L missense 0.00001647●●●●●●
163. 50400923 c.3043A>C p.K1015Q missense 0.00001647●●●●●●
164. 50401012 c.2954A>G p.N985S missense 0.00001647●●●●●●
165. 50401107 c.2859T>A p.F953L missense 0.00001647●●●●●●
166. 50418814 c.130+4A>T splice site 0.00001286●●●●●●
167. 50418826 c.122G>A p.G41E missense 0.00001193●●●●●●
168. 50418836 c.112_120dupCCCGCGGCG p.Pro38_Ala40dup inframe 0.00001191●●●●●●
169. 50418853 c.95A>T p.D32V missense 0.00000945●●●●●●
170. 50418872 c.76C>A p.Q26K missense 0.00000940●●●●●●
171. 50418858 c.90T>A p.F30L missense 0.00000927●●●●●●
172. 50418880 c.68C>T p.P23L missense 0.00000906●●●●●●
173. 50418868 c.80C>T p.T27I missense 0.00000906●●●●●●
174. 50418901 c.47A>C p.E16A missense 0.00000892●●●●●●
175. 50418910 c.38A>G p.N13S missense 0.00000887●●●●●●
176. 50418910 c.38A>C p.N13T missense 0.00000887●●●●●●
177. 50418912 c.36C>G p.I12M missense 0.00000886●●●●●●
178. 50408894 c.131-3C>T splice site 0.00000865●●●●●●
179. 50408888 c.134C>T p.A45V missense 0.00000861●●●●●●
180. 50408879 c.143A>G p.N48S missense 0.00000857●●●●●●
181. 50408862 c.160G>A p.E54K missense 0.00000850●●●●●●
182. 50408858 c.164T>A p.V55E missense 0.00000849●●●●●●
183. 50408855 c.167C>T p.A56V missense 0.00000848●●●●●●
184. 50408271 c.751G>A p.G251R missense 0.00000839●●●●●●
185. 50408331 c.691C>G p.L231V missense 0.00000838●●●●●●
186. 50408363 c.659G>A p.C220Y missense 0.00000837●●●●●●
187. 50408823 c.199C>T p.R67C missense 0.00000837●●●●●●
188. 50408376 c.646G>A p.E216K missense 0.00000836●●●●●●
189. 50408382 c.640G>A p.V214I missense 0.00000834●●●●●●
190. 50405686 c.2462-6T>C splice site 0.00000832●●●●●●
191. 50408243 c.779T>C p.L260S missense 0.00000832●●●●●●
192. 50408799 c.223G>A p.E75K missense 0.00000832●●●●●●
193. 50405685 c.2462-5A>G splice site 0.00000831●●●●●●
194. 50408793 c.229T>C p.C77R missense 0.00000831●●●●●●
195. 50405677 c.2465G>T p.R822L missense 0.00000830●●●●●●
196. 50408232 c.790A>G p.M264V missense 0.00000830●●●●●●
197. 50408786 c.236C>T p.A79V missense 0.00000830●●●●●●
198. 50408405 c.617C>A p.P206H missense 0.00000830●●●●●●
199. 50408399 c.623C>T p.A208V missense 0.00000830●●●●●●
200. 50408783 c.239A>T p.E80V missense 0.00000830●●●●●●
201. 50408409 c.613G>C p.V205L missense 0.00000829●●●●●●
202. 50405669 c.2473C>G p.L825V missense 0.00000829●●●●●●
203. 50408025 c.997G>A p.A333T missense 0.00000829●●●●●●
204. 50405673 c.2469C>G p.S823R missense 0.00000829●●●●●●
205. 50408042 c.980T>C p.M327T missense 0.00000829●●●●●●
206. 50408220 c.802G>A p.V268I missense 0.00000829●●●●●●
207. 50408048 c.974A>G p.N325S missense 0.00000829●●●●●●
208. 50408754 c.268C>T p.H90Y missense 0.00000828●●●●●●
209. 50408201 c.821T>C p.L274S missense 0.00000828●●●●●●
210. 50408141 c.881T>C p.L294P missense 0.00000827●●●●●●
211. 50408171 c.851T>A p.L284Q missense 0.00000827●●●●●●
212. 50406566 c.2456T>G p.M819R missense 0.00000827●●●●●●
213. 50408150 c.872A>C p.Q291P missense 0.00000827●●●●●●
214. 50408741 c.281G>C p.C94S missense 0.00000827●●●●●●
215. 50405660 c.2482A>T p.T828S missense 0.00000827●●●●●●
216. 50408727 c.295C>T p.P99S missense 0.00000827●●●●●●
217. 50408123 c.899C>T p.P300L missense 0.00000827●●●●●●
218. 50408162 c.860A>G p.D287G missense 0.00000827●●●●●●
219. 50408738 c.284C>G p.T95S missense 0.00000827●●●●●●
220. 50407985 c.1037G>A p.S346N missense 0.00000827●●●●●●
221. 50406875 c.2147A>C p.H716P missense 0.00000826●●●●●●
222. 50406743 c.2279C>T p.T760I missense 0.00000826●●●●●●
223. 50408697 c.325C>G p.P109A missense 0.00000826●●●●●●
224. 50408431 c.591C>G p.S197R missense 0.00000826●●●●●●
225. 50406857 c.2165T>A p.L722Q missense 0.00000826●●●●●●
226. 50406881 c.2141G>A p.S714N missense 0.00000826●●●●●●
227. 50406753 c.2269G>A p.D757N missense 0.00000826●●●●●●
228. 50408423 c.599C>T p.A200V missense 0.00000826●●●●●●
229. 50407706 c.1316C>T p.P439L missense 0.00000826●●●●●●
230. 50408426 c.596A>C p.D199A missense 0.00000826●●●●●●
231. 50405392 c.2742+8T>C splice site 0.00000826●●●●●●
232. 50406893 c.2129C>T p.T710M missense 0.00000826●●●●●●
233. 50407967 c.1055C>T p.A352V missense 0.00000826●●●●●●
234. 50407724 c.1298C>G p.P433R missense 0.00000826●●●●●●
235. 50408427 c.595G>A p.D199N missense 0.00000826●●●●●●
236. 50408706 c.316A>T p.S106C missense 0.00000826●●●●●●
237. 50406870 c.2152G>A p.A718T missense 0.00000826●●●●●●
238. 50406738 c.2284G>A p.D762N missense 0.00000826●●●●●●
239. 50406576 c.2446C>T p.R816C missense 0.00000826●●●●●●
240. 50407719 c.1303G>A p.V435M missense 0.00000826●●●●●●
241. 50407784 c.1238C>A p.S413Y missense 0.00000825●●●●●●
242. 50407725 c.1297C>G p.P433A missense 0.00000825●●●●●●
243. 50407635 c.1387G>A p.D463N missense 0.00000825●●●●●●
244. 50408623 c.399C>A p.H133Q missense 0.00000825●●●●●●
245. 50407455 c.1567G>A p.G523R missense 0.00000825●●●●●●
246. 50407799 c.1223G>T p.R408I missense 0.00000825●●●●●●
247. 50407818 c.1204C>T p.R402C missense 0.00000825●●●●●●
248. 50406936 c.2086G>A p.V696I missense 0.00000825●●●●●●
249. 50406836 c.2186C>G p.S729C missense 0.00000825●●●●●●
250. 50406801 c.2221T>C p.F741L missense 0.00000825●●●●●●
251. 50408646 c.376A>G p.S126G missense 0.00000825●●●●●●
252. 50406690 c.2332G>C p.D778H missense 0.00000825●●●●●●
253. 50407787 c.1235G>C p.C412S missense 0.00000825●●●●●●
254. 50407632 c.1390C>T p.P464S missense 0.00000825●●●●●●
255. 50408629 c.393C>G p.D131E missense 0.00000825●●●●●●
256. 50407449 c.1573G>C p.G525R missense 0.00000825●●●●●●
257. 50407802 c.1220A>T p.E407V missense 0.00000825●●●●●●
258. 50407821 c.1201C>G p.L401V missense 0.00000825●●●●●●
259. 50407730 c.1292G>A p.R431Q missense 0.00000825●●●●●●
260. 50408667 c.355G>A p.V119I missense 0.00000825●●●●●●
261. 50407502 c.1520T>A p.L507Q missense 0.00000825●●●●●●
262. 50406830 c.2192A>G p.D731G missense 0.00000825●●●●●●
263. 50407778 c.1244G>T p.C415F missense 0.00000825●●●●●●
264. 50408444 c.578T>G p.V193G missense 0.00000825●●●●●●
265. 50407790 c.1232T>G p.V411G missense 0.00000825●●●●●●
266. 50407047 c.1975C>G p.P659A missense 0.00000825●●●●●●
267. 50405635 c.2507A>C p.Y836S missense 0.00000825●●●●●●
268. 50401214 c.2752A>T p.M918L missense 0.00000825●●●●●●
269. 50407509 c.1513G>A p.G505S missense 0.00000825●●●●●●
270. 50408637 c.385A>C p.S129R missense 0.00000825●●●●●●
271. 50407433 c.1589C>A p.S530Y missense 0.00000825●●●●●●
272. 50407817 c.1205G>C p.R402P missense 0.00000825●●●●●●
273. 50407629 c.1393A>G p.I465V missense 0.00000825●●●●●●
274. 50407770 c.1252C>T p.R418C missense 0.00000825●●●●●●
275. 50407635 c.1387G>C p.D463H missense 0.00000825●●●●●●
276. 50406686 c.2336T>C p.I779T missense 0.00000825●●●●●●
277. 50407416 c.1606T>C p.F536L missense 0.00000825●●●●●●
278. 50408610 c.412G>C p.G138R missense 0.00000825●●●●●●
279. 50407791 c.1231G>C p.V411L missense 0.00000825●●●●●●
280. 50406948 c.2074G>T p.D692Y missense 0.00000825●●●●●●
281. 50407434 c.1588T>A p.S530T missense 0.00000825●●●●●●
282. 50406795 c.2227C>G p.L743V missense 0.00000825●●●●●●
283. 50406830 c.2192A>T p.D731V missense 0.00000825●●●●●●
284. 50407169 c.1853C>T p.T618I missense 0.00000824●●●●●●
285. 50407110 c.1912G>T p.A638S missense 0.00000824●●●●●●
286. 50400936 c.3030C>A p.N1010K missense 0.00000824●●●●●●
287. 50400923 c.3043A>G p.K1015E missense 0.00000824●●●●●●
288. 50401063 c.2903T>G p.V968G missense 0.00000824●●●●●●
289. 50406983 c.2039G>A p.G680D missense 0.00000824●●●●●●
290. 50407521 c.1501G>C p.G501R missense 0.00000824●●●●●●
291. 50407511 c.1511C>T p.P504L missense 0.00000824●●●●●●
292. 50405431 c.2711G>A p.G904E missense 0.00000824●●●●●●
293. 50405477 c.2665G>A p.E889K missense 0.00000824●●●●●●
294. 50407890 c.1132G>A p.A378T missense 0.00000824●●●●●●
295. 50401133 c.2833G>A p.D945N missense 0.00000824●●●●●●
296. 50407281 c.1741C>A p.L581I missense 0.00000824●●●●●●
297. 50401010 c.2956G>A p.E986K missense 0.00000824●●●●●●
298. 50408477 c.545C>T p.T182I missense 0.00000824●●●●●●
299. 50400884 c.3082G>C p.E1028Q missense 0.00000824●●●●●●
300. 50407071 c.1951G>A p.G651S missense 0.00000824●●●●●●
301. 50407536 c.1486A>C p.K496Q missense 0.00000824●●●●●●
302. 50406971 c.2051A>G p.H684R missense 0.00000824●●●●●●
303. 50405573 c.2569C>G p.P857A missense 0.00000824●●●●●●
304. 50405552 c.2590C>T p.R864C missense 0.00000824●●●●●●
305. 50408525 c.497A>G p.Q166R missense 0.00000824●●●●●●
306. 50400970 c.2996C>G p.P999R missense 0.00000824●●●●●●
307. 50401181 c.2785C>T p.R929C missense 0.00000824●●●●●●
308. 50401098 c.2868A>T p.E956D missense 0.00000824●●●●●●
309. 50408601 c.421G>A p.E141K missense 0.00000824●●●●●●
310. 50407025 c.1997C>T p.T666M missense 0.00000824●●●●●●
311. 50408588 c.434A>C p.E145A missense 0.00000824●●●●●●
312. 50407874 c.1148A>C p.K383T missense 0.00000824●●●●●●
313. 50407340 c.1682C>G p.A561G missense 0.00000824●●●●●●
314. 50407254 c.1768G>T p.G590W missense 0.00000824●●●●●●
315. 50407142 c.1880C>T p.S627L missense 0.00000824●●●●●●
316. 50400952 c.3014C>T p.T1005I missense 0.00000824●●●●●●
317. 50407034 c.1988G>T p.C663F missense 0.00000824●●●●●●
318. 50405621 c.2521G>C p.V841L missense 0.00000824●●●●●●
319. 50405492 c.2650G>A p.A884T missense 0.00000824●●●●●●
320. 50407901 c.1121A>G p.K374R missense 0.00000824●●●●●●
321. 50401157 c.2809A>G p.N937D missense 0.00000824●●●●●●
322. 50401148 c.2818G>C p.A940P missense 0.00000824●●●●●●
323. 50401066 c.2900T>C p.V967A missense 0.00000824●●●●●●
324. 50408568 c.454G>C p.V152L missense 0.00000824●●●●●●
325. 50400929 c.3037G>A p.V1013I missense 0.00000824●●●●●●
326. 50400916 c.3050A>T p.D1017V missense 0.00000824●●●●●●
327. 50406597 c.2425G>T p.A809S missense 0.00000824●●●●●●
328. 50407091 c.1931A>T p.H644L missense 0.00000824●●●●●●
329. 50407550 c.1472C>G p.S491W missense 0.00000824●●●●●●
330. 50406977 c.2045T>G p.I682S missense 0.00000824●●●●●●
331. 50405579 c.2563A>C p.M855L missense 0.00000824●●●●●●
332. 50401205 c.2761G>A p.G921R missense 0.00000824●●●●●●
333. 50401183 c.2783G>A p.R928H missense 0.00000824●●●●●●
334. 50406669 c.2353T>C p.F785L missense 0.00000824●●●●●●
335. 50401102 c.2864A>G p.K955R missense 0.00000824●●●●●●
336. 50407874 c.1148A>G p.K383R missense 0.00000824●●●●●●
337. 50407345 c.1677C>A p.D559E missense 0.00000824●●●●●●
338. 50408490 c.532A>G p.N178D missense 0.00000824●●●●●●
339. 50407254 c.1768G>A p.G590R missense 0.00000824●●●●●●
340. 50406588 c.2434T>A p.S812T missense 0.00000824●●●●●●
341. 50407163 c.1859C>T p.T620I missense 0.00000824●●●●●●
342. 50406986 c.2036C>T p.T679I missense 0.00000824●●●●●●
343. 50400838 c.3128A>C p.H1043P missense 0.00000824●●●●●●
344. 50400886 c.3080T>G p.V1027G missense 0.00000824●●●●●●
345. 50407515 c.1507T>A p.L503M missense 0.00000824●●●●●●
346. 50405516 c.2626G>C p.G876R missense 0.00000824●●●●●●
347. 50407151 c.1871C>G p.T624R missense 0.00000824●●●●●●
348. 50401160 c.2806G>A p.E936K missense 0.00000824●●●●●●
349. 50408577 c.445G>T p.A149S missense 0.00000824●●●●●●
350. 50407828 c.1194G>C p.Q398H missense 0.00000824●●●●●●
351. 50407325 c.1697A>G p.N566S missense 0.00000824●●●●●●
352. 50407286 c.1736G>A p.S579N missense 0.00000824●●●●●●
353. 50407590 c.1432C>T p.L478F missense 0.00000824●●●●●●
354. 50406980 c.2042C>T p.A681V missense 0.00000824●●●●●●
355. 50405591 c.2551T>A p.L851M missense 0.00000824●●●●●●
356. 50401192 c.2774A>G p.N925S missense 0.00000824●●●●●●
357. 50408598 c.424G>A p.D142N missense 0.00000824●●●●●●
358. 50407878 c.1144C>A p.H382N missense 0.00000824●●●●●●
359. 50401150 c.2816T>C p.M939T missense 0.00000824●●●●●●
360. 50408531 c.491C>T p.T164I missense 0.00000824●●●●●●
361. 50408462 c.560G>A p.R187Q missense 0.00000824●●●●●●
362. 50407269 c.1753T>G p.Y585D missense 0.00000824●●●●●●
363. 50406591 c.2431A>C p.S811R missense 0.00000824●●●●●●
364. 50407063 c.1959T>G p.I653M missense 0.00000824●●●●●●
365. 50406996 c.2026A>T p.N676Y missense 0.00000824●●●●●●
366. 50400879 c.3087A>C p.K1029N missense 0.00000824●●●●●●
367. 50407536 c.1486A>G p.K496E missense 0.00000824●●●●●●
368. 50405521 c.2621G>A p.R874Q missense 0.00000824●●●●●●
369. 50401163 c.2803A>G p.I935V missense 0.00000824●●●●●●
370. 50407835 c.1187C>T p.S396F missense 0.00000824●●●●●●
371. 50407334 c.1688C>A p.T563N missense 0.00000824●●●●●●
372. 50407313 c.1709T>C p.I570T missense 0.00000824●●●●●●
373. 50401073 c.2893G>A p.D965N 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.