AGL variants in ExAC

AGL gene summary
AGL variants in

The table below lists the AGL 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. 100353675 c.2812+11G>A splice site 0.68976078●●●●●●
2. 100346741 c.2001+8T>C splice site 0.55170507●●●●●●
3. 100358103 c.3199C>T p.P1067S missense 0.13612795●●●●●●
4. 100361925 c.3343G>A p.G1115R missense 0.06883855●●●●●●
5. 100340787 c.1160G>A p.R387Q missense 0.04756454●●●●●●
6. 100335977 c.686A>G p.Q229R missense 0.03256013●●●●●●
7. 100340782 c.1155G>T p.K385N missense 0.01404746●●●●●●
8. 100343254 c.1481G>A p.R494H missense 0.00888442●●●●●●
9. 100376325 c.3758G>A p.R1253H missense 0.00551918●●●●●●
10. 100327088 c.112A>G p.T38A missense 0.00471034●●●●●●
11. 100356848 c.2885C>G p.S962C missense 0.00435787●●●●●●
12. 100380934 c.4162-11G>A splice site 0.00301240●●●●●●
13. 100349983 c.2522C>T p.S841F missense 0.00287105●●●●●●
14. 100368269 c.3619G>A p.A1207T missense 0.00285249●●●●●●
15. 100366260 c.3431T>A p.I1144N missense 0.00173788●●●●●●
16. 100382236 c.4430C>G p.T1477S missense 0.00154370●●●●●●
17. 100349757 c.2390A>G p.N797S missense 0.00152913●●●●●●
18. 100382037 c.4331A>G p.N1444S missense 0.00099898●●●●●●
19. 100342049 c.1319C>T p.S440F missense 0.00098385●●●●●●
20. 100358107 c.3203A>G p.Y1068C missense 0.00068538●●●●●●
21. 100327853 c.334A>G p.I112V missense 0.00061773●●●●●●
22. 100350017 c.2546+10T>C splice site 0.00058927●●●●●●
23. 100357980 c.3084-8T>C splice site 0.00055592●●●●●●
24. 100376331 c.3764A>G p.N1255S missense 0.00055569●●●●●●
25. 100346337 c.1885G>A p.E629K missense 0.00052733●●●●●●
26. 100379160 c.4027G>A p.E1343K missense 0.00050357●●●●●●
27. 100346211 c.1759C>T p.H587Y missense 0.00048611●●●●●●
28. 100340252 c.968G>A p.R323Q missense 0.00046412●●●●●●
29. 100327863 c.344T>C p.V115A missense 0.00044477●●●●●●
30. 100340312 c.1028G>A p.R343Q missense 0.00043730●●●●●●
31. 100346262 c.1810T>G p.F604V missense 0.00038720●●●●●●
32. 100327962 c.443G>A p.R148K missense 0.00038711●●●●●●
33. 100368318 c.3668G>A p.G1223D missense 0.00027494●●●●●●
34. 100342010 c.1284-4A>G splice site 0.00027231●●●●●●
35. 100336321 c.854G>A p.R285Q missense 0.00024979●●●●●●
36. 100356904 c.2941A>G p.I981V missense 0.00020649●●●●●●
37. 100347158 c.2219A>G p.H740R missense 0.00020599●●●●●●
38. 100336354 c.887T>G p.L296R missense 0.00020141●●●●●●
39. 100380997 c.4214A>G p.E1405G missense 0.00019836●●●●●●
40. 100379185 c.4052A>G p.K1351R missense 0.00019793●●●●●●
41. 100316684 c.82+4A>C splice site 0.00019784●●●●●●
42. 100346668 c.1936A>G p.I646V missense 0.00018140●●●●●●
43. 100347187 c.2248G>T p.A750S missense 0.00018129●●●●●●
44. 100380972 c.4189G>A p.A1397T missense 0.00017383●●●●●●
45. 100347131 c.2192C>T p.A731V missense 0.00015654●●●●●●
46. 100343205 c.1432G>A p.V478I missense 0.00014037●●●●●●
47. 100342135 c.1405C>G p.R469G missense 0.00012371●●●●●●
48. 100382185 c.4379G>A p.R1460H missense 0.00011779●●●●●●
49. 100380947 c.4164C>G p.A1388A splice site 0.00011609●●●●●●
50. 100382256 c.4450G>A p.V1484I missense 0.00011603●●●●●●
51. 100378008 c.3884G>A p.R1295H missense 0.00011571●●●●●●
52. 100380969 c.4186A>G p.K1396E missense 0.00010764●●●●●●
53. 100342156 c.1423+3A>G splice site 0.00010732●●●●●●
54. 100353581 c.2729G>A p.R910Q missense 0.00010728●●●●●●
55. 100379209 c.4076G>A p.R1359H missense 0.00010718●●●●●●
56. 100361872 c.3290G>A p.R1097H missense 0.00010707●●●●●●
57. 100356893 c.2930G>A p.R977Q missense 0.00009909●●●●●●
58. 100340360 c.1076C>T p.P359L missense 0.00009903●●●●●●
59. 100349958 c.2497C>A p.Q833K missense 0.00009257●●●●●●
60. 100342063 c.1333A>G p.M445V missense 0.00009104●●●●●●
61. 100327112 c.136G>T p.V46L missense 0.00009092●●●●●●
62. 100327217 c.241T>C p.C81R missense 0.00009087●●●●●●
63. 100347159 c.2220T>A p.H740Q missense 0.00009063●●●●●●
64. 100366413 c.3584C>G p.T1195R missense 0.00009061●●●●●●
65. 100366280 c.3451C>T p.R1151W missense 0.00009060●●●●●●
66. 100327844 c.325G>T p.V109L missense 0.00009060●●●●●●
67. 100350168 c.2590C>T p.R864X nonsense 0.00008262●●●●●●
68. 100340989 c.1261A>G p.R421G missense 0.00008260●●●●●●
69. 100350235 c.2657C>T p.P886L missense 0.00008252●●●●●●
70. 100382006 c.4300A>G p.N1434D missense 0.00007492●●●●●●
71. 100327272 c.293+3A>G splice site 0.00007451●●●●●●
72. 100357238 c.3026C>T p.A1009V missense 0.00007419●●●●●●
73. 100346281 c.1829G>A p.R610K missense 0.00007415●●●●●●
74. 100381954 c.4260-12A>G splice site 0.00007104●●●●●●
75. 100350016 c.2546+9A>G splice site 0.00007033●●●●●●
76. 100381977 c.4271A>T p.Y1424F missense 0.00006735●●●●●●
77. 100335947 c.665-9T>C splice site 0.00006609●●●●●●
78. 100327164 c.188G>A p.R63H missense 0.00006607●●●●●●
79. 100340954 c.1226T>G p.L409R missense 0.00006599●●●●●●
80. 100340348 c.1064C>T p.T355M missense 0.00006599●●●●●●
81. 100330103 c.622T>C p.W208R missense 0.00006598●●●●●●
82. 100379208 c.4075C>T p.R1359C missense 0.00006595●●●●●●
83. 100336057 c.766C>T p.R256C missense 0.00006591●●●●●●
84. 100382266 c.4460G>A p.R1487Q missense 0.00005799●●●●●●
85. 100349714 c.2347_2350delGAGA p.Arg784ThrfsTer20 frameshift 0.00005795●●●●●●
86. 100330121 c.640A>G p.T214A missense 0.00005780●●●●●●
87. 100336058 c.767G>A p.R256H missense 0.00005767●●●●●●
88. 100327824 c.305_307delGTG p.Gly105del inframe 0.00005765●●●●●●
89. 100349947 c.2486A>G p.N829S missense 0.00005032●●●●●●
90. 100336378 c.911T>C p.V304A missense 0.00005026●●●●●●
91. 100368263 c.3613C>T p.Q1205X nonsense 0.00004990●●●●●●
92. 100382257 c.4451T>G p.V1484G missense 0.00004972●●●●●●
93. 100382265 c.4459C>T p.R1487X nonsense 0.00004970●●●●●●
94. 100349720 c.2353A>G p.N785D missense 0.00004965●●●●●●
95. 100356777 c.2814T>G p.G938G splice site 0.00004959●●●●●●
96. 100347247 c.2308G>C p.G770R missense 0.00004952●●●●●●
97. 100346665 c.1933A>G p.T645A missense 0.00004947●●●●●●
98. 100316615 c.17_18delAG p.Gln6HisfsX20 frameshift 0.00004944●●●●●●
99. 100350006 c.2545A>G p.R849G missense 0.00004372●●●●●●
100. 100349949 c.2488G>C p.E830Q missense 0.00004196●●●●●●
101. 100368293 c.3643A>G p.I1215V missense 0.00004160●●●●●●
102. 100340783 c.1156C>T p.H386Y missense 0.00004149●●●●●●
103. 100379118 c.3985A>G p.R1329G missense 0.00004149●●●●●●
104. 100336145 c.846+8T>A splice site 0.00004148●●●●●●
105. 100382268 c.4462C>T p.H1488Y missense 0.00004142●●●●●●
106. 100380990 c.4207A>T p.I1403F missense 0.00004132●●●●●●
107. 100346878 c.2032A>G p.T678A missense 0.00004132●●●●●●
108. 100350169 c.2591G>A p.R864Q missense 0.00004131●●●●●●
109. 100327200 c.224A>G p.D75G missense 0.00004130●●●●●●
110. 100356893 c.2930G>T p.R977L missense 0.00004129●●●●●●
111. 100350260 c.2681+1G>A essential splice site 0.00004127●●●●●●
112. 100358077 c.3173T>G p.I1058S missense 0.00004127●●●●●●
113. 100353623 c.2771A>C p.D924A missense 0.00004125●●●●●●
114. 100343325 c.1552A>G p.T518A missense 0.00004125●●●●●●
115. 100357178 c.2966A>G p.Q989R missense 0.00004124●●●●●●
116. 100342136 c.1406G>A p.R469Q missense 0.00004124●●●●●●
117. 100340326 c.1042G>A p.V348I missense 0.00004124●●●●●●
118. 100343310 c.1537A>T p.T513S missense 0.00004123●●●●●●
119. 100346707 c.1975G>A p.G659S missense 0.00004122●●●●●●
120. 100346316 c.1864A>C p.M622L missense 0.00004120●●●●●●
121. 100346347 c.1895T>C p.I632T missense 0.00004120●●●●●●
122. 100347161 c.2222A>G p.Q741R missense 0.00004120●●●●●●
123. 100366265 c.3436G>A p.A1146T missense 0.00004118●●●●●●
124. 100340704 c.1083-6C>T splice site 0.00003535●●●●●●
125. 100368333 c.3683G>A p.R1228Q missense 0.00003342●●●●●●
126. 100382046 c.4340A>G p.Q1447R missense 0.00003336●●●●●●
127. 100382245 c.4439T>G p.L1480W missense 0.00003317●●●●●●
128. 100379134 c.4001A>G p.N1334S missense 0.00003310●●●●●●
129. 100346935 c.2089G>T p.G697C missense 0.00003309●●●●●●
130. 100350154 c.2576C>T p.A859V missense 0.00003308●●●●●●
131. 100346920 c.2074G>A p.V692I missense 0.00003308●●●●●●
132. 100346860 c.2014T>G p.S672A missense 0.00003306●●●●●●
133. 100340376 c.1082+10G>A splice site 0.00003306●●●●●●
134. 100353527 c.2682-7T>C splice site 0.00003306●●●●●●
135. 100356907 c.2944G>A p.A982T missense 0.00003305●●●●●●
136. 100327121 c.145A>G p.N49D missense 0.00003304●●●●●●
137. 100356880 c.2917C>T p.R973W missense 0.00003302●●●●●●
138. 100358068 c.3164C>G p.S1055C missense 0.00003302●●●●●●
139. 100342152 c.1422G>A p.P474P splice site 0.00003302●●●●●●
140. 100350226 c.2648A>G p.N883S missense 0.00003301●●●●●●
141. 100346641 c.1909G>A p.A637T missense 0.00003299●●●●●●
142. 100346671 c.1939G>A p.V647I missense 0.00003298●●●●●●
143. 100357297 c.3083+2_3083+3delTA essential splice site 0.00003298●●●●●●
144. 100329996 c.515G>C p.C172S missense 0.00003296●●●●●●
145. 100345561 c.1694A>G p.N565S missense 0.00003296●●●●●●
146. 100336027 c.736C>G p.P246A missense 0.00003295●●●●●●
147. 100330046 c.565A>G p.N189D missense 0.00003295●●●●●●
148. 100361871 c.3289C>T p.R1097C missense 0.00003295●●●●●●
149. 100361929 c.3347G>A p.R1116H missense 0.00003295●●●●●●
150. 100327860 c.341G>A p.R114H missense 0.00003295●●●●●●
151. 100376354 c.3787A>G p.M1263V missense 0.00002562●●●●●●
152. 100368347 c.3697G>A p.E1233K missense 0.00002559●●●●●●
153. 100382156 c.4350G>C p.E1450D missense 0.00002546●●●●●●
154. 100381972 c.4266G>T p.M1422I missense 0.00002539●●●●●●
155. 100382188 c.4382C>G p.A1461G missense 0.00002521●●●●●●
156. 100381988 c.4282T>C p.Y1428H missense 0.00002508●●●●●●
157. 100336362 c.895T>A p.W299R missense 0.00002506●●●●●●
158. 100368303 c.3653G>A p.R1218Q missense 0.00002498●●●●●●
159. 100368285 c.3635T>C p.M1212T missense 0.00002496●●●●●●
160. 100379113 c.3980G>A p.W1327X nonsense 0.00002494●●●●●●
161. 100327077 c.101G>A p.R34Q missense 0.00002491●●●●●●
162. 100343390 c.1611+6G>A splice site 0.00002491●●●●●●
163. 100343376 c.1603G>A p.V535I missense 0.00002485●●●●●●
164. 100358162 c.3258A>T splice site 0.00002485●●●●●●
165. 100350153 c.2575G>A p.A859T missense 0.00002482●●●●●●
166. 100327112 c.136G>A p.V46M missense 0.00002480●●●●●●
167. 100349775 c.2408C>G p.T803R missense 0.00002480●●●●●●
168. 100380993 c.4210G>A p.A1404T missense 0.00002480●●●●●●
169. 100346870 c.2024G>A p.R675Q missense 0.00002479●●●●●●
170. 100327232 c.256C>T p.Q86X nonsense 0.00002479●●●●●●
171. 100346905 c.2059T>G p.S687A missense 0.00002479●●●●●●
172. 100327163 c.187C>T p.R63C missense 0.00002478●●●●●●
173. 100327196 c.220G>A p.E74K missense 0.00002478●●●●●●
174. 100358059 c.3155A>G p.K1052R missense 0.00002477●●●●●●
175. 100358070 c.3166C>G p.L1056V missense 0.00002477●●●●●●
176. 100342151 c.1421C>T p.P474L missense 0.00002476●●●●●●
177. 100340323 c.1039A>G p.T347A missense 0.00002475●●●●●●
178. 100340969 c.1241C>T p.P414L missense 0.00002475●●●●●●
179. 100340333 c.1049T>C p.M350T missense 0.00002474●●●●●●
180. 100340334 c.1050G>A p.M350I missense 0.00002474●●●●●●
181. 100379235 c.4102G>A p.A1368T missense 0.00002473●●●●●●
182. 100336015 c.724C>G p.P242A missense 0.00002472●●●●●●
183. 100330007 c.526G>A p.A176T missense 0.00002472●●●●●●
184. 100343253 c.1480C>T p.R494C missense 0.00002472●●●●●●
185. 100346199 c.1747G>A p.A583T missense 0.00002472●●●●●●
186. 100327829 c.310G>A p.G104R missense 0.00002471●●●●●●
187. 100327887 c.368C>T p.P123L missense 0.00002471●●●●●●
188. 100361928 c.3346C>T p.R1116C missense 0.00002471●●●●●●
189. 100336041 c.750_753delAGAC p.Asp251GlufsTer23 frameshift 0.00002471●●●●●●
190. 100327961 c.442A>G p.R148G missense 0.00002471●●●●●●
191. 100327830 c.311G>T p.G104V missense 0.00002471●●●●●●
192. 100327859 c.340C>T p.R114C missense 0.00002471●●●●●●
193. 100361919 c.3337A>G p.I1113V missense 0.00002471●●●●●●
194. 100336307 c.847-7T>A splice site 0.00001810●●●●●●
195. 100376294 c.3727G>A p.E1243K missense 0.00001777●●●●●●
196. 100376406 c.3836+3A>G splice site 0.00001743●●●●●●
197. 100376397 c.3830C>T p.T1277I missense 0.00001734●●●●●●
198. 100349983 c.2522C>A p.S841Y missense 0.00001714●●●●●●
199. 100376331 c.3764A>C p.N1255T missense 0.00001710●●●●●●
200. 100336331 c.864T>G p.I288M missense 0.00001699●●●●●●
201. 100340240 c.959-3T>A splice site 0.00001699●●●●●●
202. 100382159 c.4353G>T p.W1451C missense 0.00001696●●●●●●
203. 100349969 c.2508A>T p.E836D missense 0.00001694●●●●●●
204. 100336339 c.872A>G p.D291G missense 0.00001688●●●●●●
205. 100381977 c.4271A>G p.Y1424C missense 0.00001684●●●●●●
206. 100336393 c.926C>T p.A309V missense 0.00001682●●●●●●
207. 100381979 c.4273T>C p.C1425R missense 0.00001680●●●●●●
208. 100336352 c.885G>C p.K295N missense 0.00001679●●●●●●
209. 100336355 c.888_889insA p.Leu298ThrfsTer14 frameshift 0.00001678●●●●●●
210. 100342051 c.1321A>G p.M441V missense 0.00001674●●●●●●
211. 100327059 c.83G>A p.G28E missense 0.00001674●●●●●●
212. 100327060 c.84G>A splice site 0.00001673●●●●●●
213. 100381989 c.4283A>C p.Y1428S missense 0.00001671●●●●●●
214. 100382218 c.4412C>T p.P1471L missense 0.00001668●●●●●●
215. 100330148 c.664+3A>G splice site 0.00001664●●●●●●
216. 100382013 c.4307A>G p.N1436S missense 0.00001664●●●●●●
217. 100368263 c.3613C>G p.Q1205E missense 0.00001663●●●●●●
218. 100340820 c.1185+8T>C splice site 0.00001662●●●●●●
219. 100327077 c.101G>C p.R34P missense 0.00001661●●●●●●
220. 100382238 c.4432A>G p.I1478V missense 0.00001660●●●●●●
221. 100340278 c.994C>T p.H332Y missense 0.00001660●●●●●●
222. 100340784 c.1157A>G p.H386R missense 0.00001659●●●●●●
223. 100377964 c.3840T>G p.D1280E missense 0.00001659●●●●●●
224. 100382242 c.4436T>C p.V1479A missense 0.00001659●●●●●●
225. 100340799 c.1172A>G p.Y391C missense 0.00001659●●●●●●
226. 100343190 c.1424-7T>A splice site 0.00001657●●●●●●
227. 100381041 c.4258G>C p.D1420H missense 0.00001656●●●●●●
228. 100346993 c.2147G>A p.G716D missense 0.00001656●●●●●●
229. 100382278 c.4472A>G p.H1491R missense 0.00001656●●●●●●
230. 100327094 c.118C>T p.Q40X nonsense 0.00001655●●●●●●
231. 100346935 c.2089G>A p.G697S missense 0.00001655●●●●●●
232. 100346947 c.2101G>T p.A701S missense 0.00001655●●●●●●
233. 100349797 c.2430T>G p.I810M missense 0.00001654●●●●●●
234. 100327241 c.265G>T p.G89C missense 0.00001654●●●●●●
235. 100380978 c.4195A>G p.K1399E missense 0.00001654●●●●●●
236. 100343197 c.1424G>T p.G475V missense 0.00001654●●●●●●
237. 100358146 c.3242G>C p.C1081S missense 0.00001654●●●●●●
238. 100349785 c.2418T>G p.I806M missense 0.00001654●●●●●●
239. 100346885 c.2039G>A p.W680X nonsense 0.00001653●●●●●●
240. 100387122 c.4514A>G p.N1505S missense 0.00001653●●●●●●
241. 100387172 c.4564A>G p.I1522V missense 0.00001653●●●●●●
242. 100357999 c.3095A>G p.N1032S missense 0.00001653●●●●●●
243. 100387182 c.4574T>C p.I1525T missense 0.00001653●●●●●●
244. 100356898 c.2935G>A p.G979R missense 0.00001652●●●●●●
245. 100329942 c.461G>A p.G154D missense 0.00001652●●●●●●
246. 100387136 c.4528_4529insA p.Tyr1510Ter frameshift 0.00001652●●●●●●
247. 100340362 c.1078C>T p.H360Y missense 0.00001651●●●●●●
248. 100335953 c.665-3C>T splice site 0.00001651●●●●●●
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499. 100327224 c.248T>G p.L83R missense 0.00000826●●●●●●
500. 100343340 c.1567G>A p.V523I missense 0.00000826●●●●●●
501. 100340369 c.1082+3A>G splice site 0.00000826●●●●●●
502. 100353535 c.2683C>G p.L895V missense 0.00000826●●●●●●
503. 100327136 c.160G>A p.G54R missense 0.00000826●●●●●●
504. 100357157 c.2950-5T>G splice site 0.00000825●●●●●●
505. 100350207 c.2629G>C p.G877R missense 0.00000825●●●●●●
506. 100342130 c.1400C>T p.P467L missense 0.00000825●●●●●●
507. 100347238 c.2299T>G p.C767G missense 0.00000825●●●●●●
508. 100353574 c.2722C>T p.L908F missense 0.00000825●●●●●●
509. 100330104 c.623G>C p.W208S missense 0.00000825●●●●●●
510. 100343223 c.1450C>A p.L484I missense 0.00000825●●●●●●
511. 100336113 c.822G>T p.L274F missense 0.00000825●●●●●●
512. 100379288 c.4155G>A p.M1385I missense 0.00000825●●●●●●
513. 100353613 c.2761G>A p.G921R missense 0.00000825●●●●●●
514. 100342108 c.1378G>A p.G460R missense 0.00000825●●●●●●
515. 100340965 c.1237G>T p.G413C missense 0.00000825●●●●●●
516. 100347239 c.2300G>A p.C767Y missense 0.00000825●●●●●●
517. 100340948 c.1220A>G p.E407G missense 0.00000825●●●●●●
518. 100357160 c.2950-2A>C essential splice site 0.00000825●●●●●●
519. 100358085 c.3181C>T p.P1061S missense 0.00000825●●●●●●
520. 100343314 c.1541A>G p.E514G missense 0.00000825●●●●●●
521. 100342119 c.1389G>A p.M463I missense 0.00000825●●●●●●
522. 100347238 c.2299T>C p.C767R missense 0.00000825●●●●●●
523. 100340978 c.1250G>C p.G417A missense 0.00000825●●●●●●
524. 100350248 c.2670T>G p.I890M missense 0.00000825●●●●●●
525. 100353584 c.2732G>A p.C911Y missense 0.00000825●●●●●●
526. 100340347 c.1063A>G p.T355A missense 0.00000825●●●●●●
527. 100342135 c.1405C>T p.R469X nonsense 0.00000825●●●●●●
528. 100350261 c.2681+2_2681+3insA splice site 0.00000825●●●●●●
529. 100346626 c.1900-6T>C splice site 0.00000825●●●●●●
530. 100342112 c.1382G>A p.W461X nonsense 0.00000825●●●●●●
531. 100336113 c.822G>C p.L274F missense 0.00000825●●●●●●
532. 100329948 c.467A>G p.N156S missense 0.00000825●●●●●●
533. 100356883 c.2920C>T p.L974F missense 0.00000825●●●●●●
534. 100340960 c.1232G>T p.G411V missense 0.00000825●●●●●●
535. 100335956 c.665C>T p.A222V missense 0.00000825●●●●●●
536. 100379184 c.4051A>G p.K1351E missense 0.00000825●●●●●●
537. 100353625 c.2773A>G p.I925V missense 0.00000825●●●●●●
538. 100340966 c.1238G>A p.G413D missense 0.00000825●●●●●●
539. 100346633 c.1901A>T p.H634L missense 0.00000825●●●●●●
540. 100350235 c.2657C>A p.P886H missense 0.00000825●●●●●●
541. 100353580 c.2728C>T p.R910X nonsense 0.00000825●●●●●●
542. 100329958 c.477T>G p.H159Q missense 0.00000825●●●●●●
543. 100340979 c.1251_1252insC p.Val419CysfsTer3 frameshift 0.00000825●●●●●●
544. 100342151 c.1421C>G p.P474R missense 0.00000825●●●●●●
545. 100346662 c.1930A>G p.T644A missense 0.00000825●●●●●●
546. 100356848 c.2885C>T p.S962F missense 0.00000825●●●●●●
547. 100350210 c.2632A>C p.S878R missense 0.00000825●●●●●●
548. 100340936 c.1208A>G p.N403S missense 0.00000825●●●●●●
549. 100330112 c.631A>T p.I211F missense 0.00000825●●●●●●
550. 100353589 c.2737T>C p.S913P missense 0.00000825●●●●●●
551. 100350247 c.2669delT p.Pro891LeufsTer9 frameshift 0.00000825●●●●●●
552. 100350201 c.2623A>C p.K875Q missense 0.00000825●●●●●●
553. 100346629 c.1900-3T>C splice site 0.00000825●●●●●●
554. 100342114 c.1384G>C p.V462L missense 0.00000825●●●●●●
555. 100340317 c.1033G>A p.G345S missense 0.00000825●●●●●●
556. 100357170 c.2958A>C p.K986N missense 0.00000825●●●●●●
557. 100335962 c.671A>G p.N224S missense 0.00000825●●●●●●
558. 100379188 c.4055A>G p.H1352R missense 0.00000825●●●●●●
559. 100347244 c.2305C>A p.P769T missense 0.00000825●●●●●●
560. 100350260 c.2681+1G>T essential splice site 0.00000825●●●●●●
561. 100353650 c.2798A>T p.Y933F missense 0.00000825●●●●●●
562. 100353557 c.2705C>T p.A902V missense 0.00000825●●●●●●
563. 100379191 c.4058_4059insA p.Asn1354LysfsTer12 frameshift 0.00000825●●●●●●
564. 100342130 c.1400C>A p.P467H missense 0.00000825●●●●●●
565. 100356856 c.2893T>G p.W965G missense 0.00000825●●●●●●
566. 100342085 c.1355C>T p.A452V missense 0.00000825●●●●●●
567. 100353617 c.2765G>T p.C922F missense 0.00000825●●●●●●
568. 100340939 c.1211T>C p.V404A missense 0.00000825●●●●●●
569. 100379173 c.4040A>T p.D1347V missense 0.00000825●●●●●●
570. 100346310 c.1858C>G p.L620V missense 0.00000824●●●●●●
571. 100327947 c.428G>T p.W143L missense 0.00000824●●●●●●
572. 100361875 c.3293G>T p.C1098F missense 0.00000824●●●●●●
573. 100327922 c.403A>G p.K135E missense 0.00000824●●●●●●
574. 100361863 c.3281G>T p.G1094V missense 0.00000824●●●●●●
575. 100345489 c.1622A>G p.D541G missense 0.00000824●●●●●●
576. 100366248 c.3419T>G p.L1140R missense 0.00000824●●●●●●
577. 100343268 c.1495C>T p.P499S missense 0.00000824●●●●●●
578. 100327860 c.341G>C p.R114P missense 0.00000824●●●●●●
579. 100336046 c.755G>T p.R252I missense 0.00000824●●●●●●
580. 100379236 c.4103C>T p.A1368V missense 0.00000824●●●●●●
581. 100379218 c.4085A>G p.Y1362C missense 0.00000824●●●●●●
582. 100366341 c.3512G>A p.G1171D missense 0.00000824●●●●●●
583. 100379232 c.4099delG p.Gly1367GlufsTer17 frameshift 0.00000824●●●●●●
584. 100316636 c.38A>G p.N13S missense 0.00000824●●●●●●
585. 100347144 c.2205C>G p.H735Q missense 0.00000824●●●●●●
586. 100366383 c.3554delC frameshift 0.00000824●●●●●●
587. 100347116 c.2177A>G p.D726G missense 0.00000824●●●●●●
588. 100345569 c.1702G>T p.V568F missense 0.00000824●●●●●●
589. 100366394 c.3565G>C p.A1189P missense 0.00000824●●●●●●
590. 100316614 c.16C>T p.Q6X nonsense 0.00000824●●●●●●
591. 100357294 c.3082A>G p.S1028G missense 0.00000824●●●●●●
592. 100346359 c.1899+8C>G splice site 0.00000824●●●●●●
593. 100330009 c.528_529insA p.Asn177LysfsTer8 frameshift 0.00000824●●●●●●
594. 100357214 c.3002A>G p.Y1001C missense 0.00000824●●●●●●
595. 100346298 c.1846A>G p.I616V missense 0.00000824●●●●●●
596. 100346341 c.1889G>T p.C630F missense 0.00000824●●●●●●
597. 100316688 c.82+8G>A splice site 0.00000824●●●●●●
598. 100316662 c.64C>G p.L22V missense 0.00000824●●●●●●
599. 100327836 c.317A>T p.Y106F missense 0.00000824●●●●●●
600. 100347170 c.2231T>C p.V744A missense 0.00000824●●●●●●
601. 100346230 c.1778T>C p.V593A missense 0.00000824●●●●●●
602. 100327813 c.294A>G splice site 0.00000824●●●●●●
603. 100345596 c.1729A>G p.I577V missense 0.00000824●●●●●●
604. 100361865 c.3283A>C p.I1095L missense 0.00000824●●●●●●
605. 100345492 c.1625C>T p.A542V missense 0.00000824●●●●●●
606. 100366420 c.3588+3A>G splice site 0.00000824●●●●●●
607. 100327965 c.446T>C p.V149A missense 0.00000824●●●●●●
608. 100316603 c.5G>A p.G2E missense 0.00000824●●●●●●
609. 100361890 c.3308C>G p.T1103S missense 0.00000824●●●●●●
610. 100346347 c.1895T>A p.I632N missense 0.00000824●●●●●●
611. 100343300 c.1527_1528insA p.Tyr512IlefsTer3 frameshift 0.00000824●●●●●●
612. 100343275 c.1502A>T p.D501V missense 0.00000824●●●●●●
613. 100327866 c.347G>A p.G116D missense 0.00000824●●●●●●
614. 100347089 c.2158-8_2158-6delCTT splice site 0.00000824●●●●●●
615. 100327848 c.329A>G p.D110G missense 0.00000824●●●●●●
616. 100357223 c.3011C>T p.P1004L missense 0.00000824●●●●●●
617. 100345606 c.1735+4G>A splice site 0.00000824●●●●●●
618. 100366343 c.3514C>G p.L1172V missense 0.00000824●●●●●●
619. 100346284 c.1832C>A p.P611H missense 0.00000824●●●●●●
620. 100346244 c.1792G>C p.G598R missense 0.00000824●●●●●●
621. 100336054 c.763T>C p.W255R missense 0.00000824●●●●●●
622. 100379259 c.4126C>G p.Q1376E missense 0.00000824●●●●●●
623. 100366377 c.3548A>G p.Y1183C missense 0.00000824●●●●●●
624. 100327896 c.377G>A p.C126Y missense 0.00000824●●●●●●
625. 100327807 c.294-6C>T splice site 0.00000824●●●●●●
626. 100379233 c.4100G>A p.G1367E missense 0.00000824●●●●●●
627. 100347133 c.2194G>A p.V732I missense 0.00000824●●●●●●
628. 100345570 c.1703T>C p.V568A missense 0.00000824●●●●●●
629. 100330054 c.573G>C p.K191N missense 0.00000824●●●●●●
630. 100361929 c.3347G>C p.R1116P missense 0.00000824●●●●●●
631. 100357226 c.3014delG frameshift 0.00000824●●●●●●
632. 100366410 c.3581G>A p.G1194D missense 0.00000824●●●●●●
633. 100346235 c.1783C>T p.R595X nonsense 0.00000824●●●●●●
634. 100346728 c.1996C>T p.H666Y missense 0.00000824●●●●●●
635. 100343254 c.1481G>C p.R494P missense 0.00000824●●●●●●
636. 100327815 c.296A>G p.N99S missense 0.00000824●●●●●●
637. 100346341 c.1889G>A p.C630Y missense 0.00000824●●●●●●
638. 100366294 c.3465G>T p.W1155C missense 0.00000824●●●●●●
639. 100343289 c.1516_1517delTG p.W506Gfs*8 frameshift 0.00000824●●●●●●
640. 100347202 c.2263A>C p.K755Q missense 0.00000824●●●●●●
641. 100346233 c.1781A>G p.Y594C missense 0.00000824●●●●●●
642. 100345494 c.1627G>A p.A543T missense 0.00000824●●●●●●
643. 100345482 c.1615A>C p.M539L missense 0.00000824●●●●●●
644. 100316606 c.8A>G p.H3R missense 0.00000824●●●●●●
645. 100336048 c.757G>C p.A253P missense 0.00000824●●●●●●
646. 100343295 c.1522C>T p.H508Y missense 0.00000824●●●●●●
647. 100366281 c.3452G>A p.R1151Q missense 0.00000824●●●●●●
648. 100327812 c.294-1G>T essential splice site 0.00000824●●●●●●
649. 100357256 c.3044A>G p.Y1015C missense 0.00000824●●●●●●
650. 100346692 c.1960A>G p.S654G missense 0.00000824●●●●●●
651. 100346180 c.1736-8C>T splice site 0.00000824●●●●●●
652. 100327913 c.394delT p.Leu133Ter frameshift 0.00000824●●●●●●
653. 100366348 c.3519C>G p.D1173E missense 0.00000824●●●●●●
654. 100346295 c.1843G>C p.A615P missense 0.00000824●●●●●●
655. 100346272 c.1820C>A p.P607H missense 0.00000824●●●●●●
656. 100379259 c.4126C>A p.Q1376K missense 0.00000824●●●●●●
657. 100366388 c.3559G>T p.D1187Y missense 0.00000824●●●●●●
658. 100347143 c.2204A>C p.H735P missense 0.00000824●●●●●●
659. 100345577 c.1710A>T p.R570S missense 0.00000824●●●●●●
660. 100316669 c.71G>T p.R24I missense 0.00000824●●●●●●
661. 100366214 c.3385G>T p.G1129C missense 0.00000824●●●●●●
662. 100316658 c.60G>C p.K20N missense 0.00000824●●●●●●
663. 100327941 c.422A>G p.D141G missense 0.00000824●●●●●●
664. 100361842 c.3260G>A p.G1087D missense 0.00000824●●●●●●
665. 100327817 c.298G>A p.E100K missense 0.00000824●●●●●●
666. 100366283 c.3454G>A p.D1152N missense 0.00000824●●●●●●
667. 100343257 c.1484A>G p.Y495C missense 0.00000824●●●●●●
668. 100336030 c.739G>T p.A247S missense 0.00000824●●●●●●
669. 100366331 c.3502G>T p.V1168F missense 0.00000824●●●●●●
670. 100347205 c.2266A>G p.T756A missense 0.00000824●●●●●●
671. 100346236 c.1784G>A p.R595Q missense 0.00000824●●●●●●
672. 100316608 c.10A>C p.S4R missense 0.00000824●●●●●●
673. 100379221 c.4088A>G p.K1363R missense 0.00000824●●●●●●
674. 100347098 c.2159T>C p.V720A missense 0.00000824●●●●●●
675. 100345518 c.1651T>C p.Y551H missense 0.00000824●●●●●●
676. 100366273 c.3444C>A p.Y1148X nonsense 0.00000824●●●●●●
677. 100329993 c.512C>T p.S171L missense 0.00000824●●●●●●
678. 100366380 c.3551C>T p.P1184L missense 0.00000824●●●●●●
679. 100327880 c.361G>T p.V121L missense 0.00000824●●●●●●
680. 100346358 c.1899+7A>G splice site 0.00000824●●●●●●
681. 100327925 c.406_409delTGTT p.Cys136TrpfsTer21 frameshift 0.00000824●●●●●●
682. 100327812 c.294-1G>C essential splice site 0.00000824●●●●●●
683. 100346698 c.1966A>C p.S656R missense 0.00000824●●●●●●
684. 100330085 c.604G>A p.E202K missense 0.00000824●●●●●●
685. 100379269 c.4136C>A p.P1379H missense 0.00000824●●●●●●
686. 100366404 c.3575C>T p.P1192L missense 0.00000824●●●●●●
687. 100366375 c.3546G>T p.M1182I missense 0.00000824●●●●●●
688. 100346332 c.1880A>G p.D627G missense 0.00000824●●●●●●
689. 100316633 c.35_36insGC p.Asn13ArgfsTer24 frameshift 0.00000824●●●●●●
690. 100361935 c.3353T>A p.V1118E missense 0.00000824●●●●●●
691. 100327809 c.294-4delT splice site 0.00000824●●●●●●
692. 100345584 c.1717A>T p.I573F missense 0.00000824●●●●●●
693. 100316669 c.71G>C p.R24T missense 0.00000824●●●●●●
694. 100366215 c.3386G>T p.G1129V missense 0.00000824●●●●●●
695. 100316662 c.64C>T p.L22F 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.